DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Genes whose expression is easily detectable and therefore used to study promoter activity at many positions in a target genome. In recombinant DNA technology, these genes may be attached to a promoter region of interest.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Promoter-specific RNA polymerase II transcription factor that binds to the GC box, one of the upstream promoter elements, in mammalian cells. The binding of Sp1 is necessary for the initiation of transcription in the promoters of a variety of cellular and viral GENES.
Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
A broad approach to appropriate coordination of the entire disease treatment process that often involves shifting away from more expensive inpatient and acute care to areas such as preventive medicine, patient counseling and education, and outpatient care. This concept includes implications of appropriate versus inappropriate therapy on the overall cost and clinical outcome of a particular disease. (From Hosp Pharm 1995 Jul;30(7):596)
The first nucleotide of a transcribed DNA sequence where RNA polymerase (DNA-DIRECTED RNA POLYMERASE) begins synthesizing the RNA transcript.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
Nucleic acid sequences involved in regulating the expression of genes.
An imprecise term which may refer to a sense of spatial disorientation, motion of the environment, or lightheadedness.
An electrophoretic technique for assaying the binding of one compound to another. Typically one compound is labeled to follow its mobility during electrophoresis. If the labeled compound is bound by the other compound, then the mobility of the labeled compound through the electrophoretic medium will be retarded.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.
Established cell cultures that have the potential to propagate indefinitely.
A method for determining the sequence specificity of DNA-binding proteins. DNA footprinting utilizes a DNA damaging agent (either a chemical reagent or a nuclease) which cleaves DNA at every base pair. DNA cleavage is inhibited where the ligand binds to DNA. (from Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Nucleotide sequences, usually upstream, which are recognized by specific regulatory transcription factors, thereby causing gene response to various regulatory agents. These elements may be found in both promoter and enhancer regions.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
Enzymes that oxidize certain LUMINESCENT AGENTS to emit light (PHYSICAL LUMINESCENCE). The luciferases from different organisms have evolved differently so have different structures and substrates.
An enzyme that catalyzes the acetylation of chloramphenicol to yield chloramphenicol 3-acetate. Since chloramphenicol 3-acetate does not bind to bacterial ribosomes and is not an inhibitor of peptidyltransferase, the enzyme is responsible for the naturally occurring chloramphenicol resistance in bacteria. The enzyme, for which variants are known, is found in both gram-negative and gram-positive bacteria. EC
Proteins found in any species of bacterium.
Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A genus of spiral bacteria of the family Brachyspiraceae.
Areas of increased density of the dinucleotide sequence cytosine--phosphate diester--guanine. They form stretches of DNA several hundred to several thousand base pairs long. In humans there are about 45,000 CpG islands, mostly found at the 5' ends of genes. They are unmethylated except for those on the inactive X chromosome and some associated with imprinted genes.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
The region of DNA which borders the 5' end of a transcription unit and where a variety of regulatory sequences are located.
An organochlorine insecticide.
A technique for identifying specific DNA sequences that are bound, in vivo, to proteins of interest. It involves formaldehyde fixation of CHROMATIN to crosslink the DNA-BINDING PROTEINS to the DNA. After shearing the DNA into small fragments, specific DNA-protein complexes are isolated by immunoprecipitation with protein-specific ANTIBODIES. Then, the DNA isolated from the complex can be identified by PCR amplification and sequencing.
An enzyme capable of hydrolyzing highly polymerized DNA by splitting phosphodiester linkages, preferentially adjacent to a pyrimidine nucleotide. This catalyzes endonucleolytic cleavage of DNA yielding 5'-phosphodi- and oligonucleotide end-products. The enzyme has a preference for double-stranded DNA.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
Cis-acting DNA sequences which can increase transcription of genes. Enhancers can usually function in either orientation and at various distances from a promoter.
The functional hereditary units of BACTERIA.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in enzyme synthesis.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Deletion of sequences of nucleic acids from the genetic material of an individual.
A theoretical representative nucleotide or amino acid sequence in which each nucleotide or amino acid is the one which occurs most frequently at that site in the different sequences which occur in nature. The phrase also refers to an actual sequence which approximates the theoretical consensus. A known CONSERVED SEQUENCE set is represented by a consensus sequence. Commonly observed supersecondary protein structures (AMINO ACID MOTIFS) are often formed by conserved sequences.
The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
Stable blood coagulation factor involved in the intrinsic pathway. The activated form XIa activates factor IX to IXa. Deficiency of factor XI is often called hemophilia C.
Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.
Genes which regulate or circumscribe the activity of other genes; specifically, genes which code for PROTEINS or RNAs which have GENE EXPRESSION REGULATION functions.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Enzymes that catalyze DNA template-directed extension of the 3'-end of an RNA strand one nucleotide at a time. They can initiate a chain de novo. In eukaryotes, three forms of the enzyme have been distinguished on the basis of sensitivity to alpha-amanitin, and the type of RNA synthesized. (From Enzyme Nomenclature, 1992).
A cell line derived from cultured tumor cells.
Interruption or suppression of the expression of a gene at transcriptional or translational levels.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.
Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A genetic process by which the adult organism is realized via mechanisms that lead to the restriction in the possible fates of cells, eventually leading to their differentiated state. Mechanisms involved cause heritable changes to cells without changes to DNA sequence such as DNA METHYLATION; HISTONE modification; DNA REPLICATION TIMING; NUCLEOSOME positioning; and heterochromatization which result in selective gene expression or repression.
Biochemical identification of mutational changes in a nucleotide sequence.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Any of the processes by which cytoplasmic factors influence the differential control of gene action in viruses.
The genetic unit consisting of three structural genes, an operator and a regulatory gene. The regulatory gene controls the synthesis of the three structural genes: BETA-GALACTOSIDASE and beta-galactoside permease (involved with the metabolism of lactose), and beta-thiogalactoside acetyltransferase.
A pyrimidine analogue that inhibits DNA methyltransferase, impairing DNA methylation. It is also an antimetabolite of cytidine, incorporated primarily into RNA. Azacytidine has been used as an antineoplastic agent.
Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.
A specificity protein transcription factor that regulates expression of a variety of genes including VASCULAR ENDOTHELIAL GROWTH FACTOR and CYCLIN-DEPENDENT KINASE INHIBITOR P27.
The in vitro fusion of GENES by RECOMBINANT DNA techniques to analyze protein behavior or GENE EXPRESSION REGULATION, or to merge protein functions for specific medical or industrial uses.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
The sequence at the 5' end of the messenger RNA that does not code for product. This sequence contains the ribosome binding site and other transcription and translation regulating sequences.
Enzymes that catalyze the endonucleolytic cleavage of single-stranded regions of DNA or RNA molecules while leaving the double-stranded regions intact. They are particularly useful in the laboratory for producing "blunt-ended" DNA molecules from DNA with single-stranded ends and for sensitive GENETIC TECHNIQUES such as NUCLEASE PROTECTION ASSAYS that involve the detection of single-stranded DNA and RNA.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Any method used for determining the location of and relative distances between genes on a chromosome.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
A protein which is a subunit of RNA polymerase. It effects initiation of specific RNA chains from DNA.
Characteristic restricted to a particular organ of the body, such as a cell type, metabolic response or expression of a particular protein or antigen.
Formation of an acetyl derivative. (Stedman, 25th ed)
A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.
A group of deoxyribonucleotides (up to 12) in which the phosphate residues of each deoxyribonucleotide act as bridges in forming diester linkages between the deoxyribose moieties.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
Addition of methyl groups. In histo-chemistry methylation is used to esterify carboxyl groups and remove sulfate groups by treating tissue sections with hot methanol in the presence of hydrochloric acid. (From Stedman, 25th ed)
Detection of RNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
A class of proteins that were originally identified by their ability to bind the DNA sequence CCAAT. The typical CCAAT-enhancer binding protein forms dimers and consists of an activation domain, a DNA-binding basic region, and a leucine-rich dimerization domain (LEUCINE ZIPPERS). CCAAT-BINDING FACTOR is structurally distinct type of CCAAT-enhancer binding protein consisting of a trimer of three different subunits.
Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
Administration of the total dose of radiation (RADIATION DOSAGE) in parts, at timed intervals.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Transport proteins that carry specific substances in the blood or across cell membranes.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in plants.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
A DNA-dependent RNA polymerase present in bacterial, plant, and animal cells. It functions in the nucleoplasmic structure and transcribes DNA into RNA. It has different requirements for cations and salt than RNA polymerase I and is strongly inhibited by alpha-amanitin. EC
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.
Two-dimensional separation and analysis of nucleotides.
Ubiquitously expressed basic HELIX-LOOP-HELIX MOTIF transcription factors. They bind CANNTG sequences in the promoters of a variety of GENES involved in carbohydrate and lipid metabolism.
PLANTS, or their progeny, whose GENOME has been altered by GENETIC ENGINEERING.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
A multiprotein complex composed of the products of c-jun and c-fos proto-oncogenes. These proteins must dimerize in order to bind to the AP-1 recognition site, also known as the TPA-responsive element (TRE). AP-1 controls both basal and inducible transcription of several genes.
Proteins prepared by recombinant DNA technology.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
A protein that has been shown to function as a calcium-regulated transcription factor as well as a substrate for depolarization-activated CALCIUM-CALMODULIN-DEPENDENT PROTEIN KINASES. This protein functions to integrate both calcium and cAMP signals.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
A heterotrimeric DNA-binding protein that binds to CCAAT motifs in the promoters of eukaryotic genes. It is composed of three subunits: A, B and C.
Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the probe include the radioisotope labels 32P and 125I and the chemical label biotin.
Proteins obtained from ESCHERICHIA COLI.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
In eukaryotes, a genetic unit consisting of a noncontiguous group of genes under the control of a single regulator gene. In bacteria, regulons are global regulatory systems involved in the interplay of pleiotropic regulatory domains and consist of several OPERONS.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.
Biologically active DNA which has been formed by the in vitro joining of segments of DNA from different sources. It includes the recombination joint or edge of a heteroduplex region where two recombining DNA molecules are connected.
Cell lines whose original growing procedure consisted being transferred (T) every 3 days and plated at 300,000 cells per plate (J Cell Biol 17:299-313, 1963). Lines have been developed using several different strains of mice. Tissues are usually fibroblasts derived from mouse embryos but other types and sources have been developed as well. The 3T3 lines are valuable in vitro host systems for oncogenic virus transformation studies, since 3T3 cells possess a high sensitivity to CONTACT INHIBITION.
Protein analogs and derivatives of the Aequorea victoria green fluorescent protein that emit light (FLUORESCENCE) when excited with ULTRAVIOLET RAYS. They are used in REPORTER GENES in doing GENETIC TECHNIQUES. Numerous mutants have been made to emit other colors or be sensitive to pH.
Ubiquitous, inducible, nuclear transcriptional activator that binds to enhancer elements in many different cell types and is activated by pathogenic stimuli. The NF-kappa B complex is a heterodimer composed of two DNA-binding subunits: NF-kappa B1 and relA.
The repeating structural units of chromatin, each consisting of approximately 200 base pairs of DNA wound around a protein core. This core is composed of the histones H2A, H2B, H3, and H4.
A ubiquitously expressed zinc finger-containing protein that acts both as a repressor and activator of transcription. It interacts with key regulatory proteins such as TATA-BINDING PROTEIN; TFIIB; and ADENOVIRUS E1A PROTEINS.
Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
Polymers made up of a few (2-20) nucleotides. In molecular genetics, they refer to a short sequence synthesized to match a region where a mutation is known to occur, and then used as a probe (OLIGONUCLEOTIDE PROBES). (Dorland, 28th ed)
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.
Nucleotide sequences of a gene that are involved in the regulation of GENETIC TRANSCRIPTION.
Transcription factors that were originally identified as site-specific DNA-binding proteins essential for DNA REPLICATION by ADENOVIRUSES. They play important roles in MAMMARY GLAND function and development.
A species of gram-positive bacteria that is a common soil and water saprophyte.
Proteins that are coded by immediate-early genes, in the absence of de novo protein synthesis. The term was originally used exclusively for viral regulatory proteins that were synthesized just after viral integration into the host cell. It is also used to describe cellular proteins which are synthesized immediately after the resting cell is stimulated by extracellular signals.
Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.
Cellular DNA-binding proteins encoded by the c-jun genes (GENES, JUN). They are involved in growth-related transcriptional control. There appear to be three distinct functions: dimerization (with c-fos), DNA-binding, and transcriptional activation. Oncogenic transformation can take place by constitutive expression of c-jun.
Actual loss of portion of a chromosome.
A family of DNA binding proteins that regulate expression of a variety of GENES during CELL DIFFERENTIATION and APOPTOSIS. Family members contain a highly conserved carboxy-terminal basic HELIX-TURN-HELIX MOTIF involved in dimerization and sequence-specific DNA binding.
A chemically diverse group of substances produced by various tissues in the body that cause slow contraction of smooth muscle; they have other intense but varied pharmacologic activities.
Motifs in DNA- and RNA-binding proteins whose amino acids are folded into a single structural unit around a zinc atom. In the classic zinc finger, one zinc atom is bound to two cysteines and two histidines. In between the cysteines and histidines are 12 residues which form a DNA binding fingertip. By variations in the composition of the sequences in the fingertip and the number and spacing of tandem repeats of the motif, zinc fingers can form a large number of different sequence specific binding sites.
Deacetylases that remove N-acetyl groups from amino side chains of the amino acids of HISTONES. The enzyme family can be divided into at least three structurally-defined subclasses. Class I and class II deacetylases utilize a zinc-dependent mechanism. The sirtuin histone deacetylases belong to class III and are NAD-dependent enzymes.
Enzymes that are part of the restriction-modification systems. They are responsible for producing a species-characteristic methylation pattern, on either adenine or cytosine residues, in a specific short base sequence in the host cell's own DNA. This methylated sequence will occur many times in the host-cell DNA and remain intact for the lifetime of the cell. Any DNA from another species which gains entry into a living cell and lacks the characteristic methylation pattern will be recognized by the restriction endonucleases of similar specificity and destroyed by cleavage. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms.
A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).
Ribonucleic acid in bacteria having regulatory and catalytic roles as well as involvement in protein synthesis.
A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
A class of weak acids with the general formula R-CONHOH.
The regulatory elements of an OPERON to which activators or repressors bind thereby effecting the transcription of GENES in the operon.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
The functional hereditary units of VIRUSES.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
A group of transcription factors that were originally described as being specific to ERYTHROID CELLS.
Deoxyribonucleic acid that makes up the genetic material of viruses.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
The functional hereditary units of PLANTS.
Usually high-molecular-weight, straight-chain primary alcohols, but can also range from as few as 4 carbons, derived from natural fats and oils, including lauryl, stearyl, oleyl, and linoleyl alcohols. They are used in pharmaceuticals, cosmetics, detergents, plastics, and lube oils and in textile manufacture. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 5th ed)
Small double-stranded, non-protein coding RNAs (21-31 nucleotides) involved in GENE SILENCING functions, especially RNA INTERFERENCE (RNAi). Endogenously, siRNAs are generated from dsRNAs (RNA, DOUBLE-STRANDED) by the same ribonuclease, Dicer, that generates miRNAs (MICRORNAS). The perfect match of the siRNAs' antisense strand to their target RNAs mediates RNAi by siRNA-guided RNA cleavage. siRNAs fall into different classes including trans-acting siRNA (tasiRNA), repeat-associated RNA (rasiRNA), small-scan RNA (scnRNA), and Piwi protein-interacting RNA (piRNA) and have different specific gene silencing functions.
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .
Change brought about to an organisms genetic composition by unidirectional transfer (TRANSFECTION; TRANSDUCTION, GENETIC; CONJUGATION, GENETIC, etc.) and incorporation of foreign DNA into prokaryotic or eukaryotic cells by recombination of part or all of that DNA into the cell's genome.
A family of zinc finger transcription factors that share homology with Kruppel protein, Drosophila. They contain a highly conserved seven amino acid spacer sequence in between their ZINC FINGER MOTIFS.
Enzymes catalyzing the transfer of an acetyl group, usually from acetyl coenzyme A, to another compound. EC 2.3.1.
Genotypic differences observed among individuals in a population.
Permanganic acid (HMnO4), potassium salt. A highly oxidative, water-soluble compound with purple crystals, and a sweet taste. (From McGraw-Hill Dictionary of Scientific and Technical Information, 4th ed)
A family of transcription factors that share a unique DNA-binding domain. The name derives from viral oncogene-derived protein oncogene protein v-ets of the AVIAN ERYTHROBLASTOSIS VIRUS.
A ubiquitously expressed octamer transcription factor that regulates GENETIC TRANSCRIPTION of SMALL NUCLEAR RNA; IMMUNOGLOBULIN GENES; and HISTONE H2B genes.
A subfamily of nuclear receptors that regulate GENETIC TRANSCRIPTION of a diverse group of GENES involved in the synthesis of BLOOD COAGULATION FACTORS; and in GLUCOSE; CHOLESTEROL; and FATTY ACIDS metabolism.
A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.
The functional hereditary units of FUNGI.
Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.
A group of compounds which consist of a nucleotide molecule to which an additional nucleoside is attached through the phosphate molecule(s). The nucleotide can contain any number of phosphates.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
An ets proto-oncogene expressed primarily in adult LYMPHOID TISSUE; BRAIN; and VASCULAR ENDOTHELIAL CELLS.
A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
Y-box-binding protein 1 was originally identified as a DNA-binding protein that interacts with Y-box PROMOTER REGIONS of MHC CLASS II GENES. It is a highly conserved transcription factor that regulates expression of a wide variety of GENES.
A phorbol ester found in CROTON OIL with very effective tumor promoting activity. It stimulates the synthesis of both DNA and RNA.
A family of transcription factors that contain regions rich in basic residues, LEUCINE ZIPPER domains, and HELIX-LOOP-HELIX MOTIFS.
A general transcription factor that plays a major role in the activation of eukaryotic genes transcribed by RNA POLYMERASES. It binds specifically to the TATA BOX promoter element, which lies close to the position of transcription initiation in RNA transcribed by RNA POLYMERASE II. Although considered a principal component of TRANSCRIPTION FACTOR TFIID it also takes part in general transcription factor complexes involved in RNA POLYMERASE I and RNA POLYMERASE III transcription.
A transcription factor that regulates the expression of a large set of hepatic proteins including SERUM ALBUMIN; beta-fibrinogen; and ALPHA 1-ANTITRYPSIN. It is composed of hetero- or homo-dimers of HEPATOCYTE NUCLEAR FACTOR 1-ALPHA and HEPATOCYTE NUCLEAR FACTOR 1-BETA.
An enzyme that catalyzes the transfer of a methyl group from S-ADENOSYLMETHIONINE to the 5-position of CYTOSINE residues in DNA.
Commonly observed BASE SEQUENCE or nucleotide structural components which can be represented by a CONSENSUS SEQUENCE or a SEQUENCE LOGO.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
A transcriptional regulator in prokaryotes which, when activated by binding cyclic AMP, acts at several promoters. Cyclic AMP receptor protein was originally identified as a catabolite gene activator protein. It was subsequently shown to regulate several functions unrelated to catabolism, and to be both a negative and a positive regulator of transcription. Cell surface cyclic AMP receptors are not included (CYCLIC AMP RECEPTORS), nor are the eukaryotic cytoplasmic cyclic AMP receptor proteins, which are the regulatory subunits of CYCLIC AMP-DEPENDENT PROTEIN KINASES.
Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of serotonergic neurons. They are different than SEROTONIN RECEPTORS, which signal cellular responses to SEROTONIN. They remove SEROTONIN from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS. Regulates signal amplitude and duration at serotonergic synapses and is the site of action of the SEROTONIN UPTAKE INHIBITORS.
DNA present in neoplastic tissue.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.

Transcriptional repression by the Drosophila giant protein: cis element positioning provides an alternative means of interpreting an effector gradient. (1/58449)

Early developmental patterning of the Drosophila embryo is driven by the activities of a diverse set of maternally and zygotically derived transcription factors, including repressors encoded by gap genes such as Kruppel, knirps, giant and the mesoderm-specific snail. The mechanism of repression by gap transcription factors is not well understood at a molecular level. Initial characterization of these transcription factors suggests that they act as short-range repressors, interfering with the activity of enhancer or promoter elements 50 to 100 bp away. To better understand the molecular mechanism of short-range repression, we have investigated the properties of the Giant gap protein. We tested the ability of endogenous Giant to repress when bound close to the transcriptional initiation site and found that Giant effectively represses a heterologous promoter when binding sites are located at -55 bp with respect to the start of transcription. Consistent with its role as a short-range repressor, as the binding sites are moved to more distal locations, repression is diminished. Rather than exhibiting a sharp 'step-function' drop-off in activity, however, repression is progressively restricted to areas of highest Giant concentration. Less than a two-fold difference in Giant protein concentration is sufficient to determine a change in transcriptional status of a target gene. This effect demonstrates that Giant protein gradients can be differentially interpreted by target promoters, depending on the exact location of the Giant binding sites within the gene. Thus, in addition to binding site affinity and number, cis element positioning within a promoter can affect the response of a gene to a repressor gradient. We also demonstrate that a chimeric Gal4-Giant protein lacking the basic/zipper domain can specifically repress reporter genes, suggesting that the Giant effector domain is an autonomous repression domain.  (+info)

Association of snRNA genes with coiled bodies is mediated by nascent snRNA transcripts. (2/58449)

BACKGROUND: Coiled bodies are nuclear organelles that are highly enriched in small nuclear ribonucleoproteins (snRNPs) and certain basal transcription factors. Surprisingly, coiled bodies not only contain mature U snRNPs but also associate with specific chromosomal loci, including gene clusters that encode U snRNAs and histone messenger RNAs. The mechanism(s) by which coiled bodies associate with these genes is completely unknown. RESULTS: Using stable cell lines, we show that artificial tandem arrays of human U1 and U2 snRNA genes colocalize with coiled bodies and that the frequency of the colocalization depends directly on the transcriptional activity of the array. Association of the genes with coiled bodies was abolished when the artificial U2 arrays contained promoter mutations that prevent transcription or when RNA polymerase II transcription was globally inhibited by alpha-amanitin. Remarkably, the association was also abolished when the U2 snRNA coding regions were replaced by heterologous sequences. CONCLUSIONS: The requirement for the U2 snRNA coding region indicates that association of snRNA genes with coiled bodies is mediated by the nascent U2 RNA itself, not by DNA or DNA-bound proteins. Our data provide the first evidence that association of genes with a nuclear organelle can be directed by an RNA and suggest an autogenous feedback regulation model.  (+info)

Telomerase reverse transcriptase gene is a direct target of c-Myc but is not functionally equivalent in cellular transformation. (3/58449)

The telomerase reverse transcriptase component (TERT) is not expressed in most primary somatic human cells and tissues, but is upregulated in the majority of immortalized cell lines and tumors. Here, we identify the c-Myc transcription factor as a direct mediator of telomerase activation in primary human fibroblasts through its ability to specifically induce TERT gene expression. Through the use of a hormone inducible form of c-Myc (c-Myc-ER), we demonstrate that Myc-induced activation of the hTERT promoter requires an evolutionarily conserved E-box and that c-Myc-ER-induced accumulation of hTERT mRNA takes place in the absence of de novo protein synthesis. These findings demonstrate that the TERT gene is a direct transcriptional target of c-Myc. Since telomerase activation frequently correlates with immortalization and telomerase functions to stabilize telomers in cycling cells, we tested whether Myc-induced activation of TERT gene expression represents an important mechanism through which c-Myc acts to immortalize cells. Employing the rat embryo fibroblast cooperation assay, we show that TERT is unable to substitute for c-Myc in the transformation of primary rodent fibroblasts, suggesting that the transforming activities of Myc extend beyond its ability to activate TERT gene expression and hence telomerase activity.  (+info)

Detailed methylation analysis of the glutathione S-transferase pi (GSTP1) gene in prostate cancer. (4/58449)

Glutathione-S-Transferases (GSTs) comprise a family of isoenzymes that provide protection to mammalian cells against electrophilic metabolites of carcinogens and reactive oxygen species. Previous studies have shown that the CpG-rich promoter region of the pi-class gene GSTP1 is methylated at single restriction sites in the majority of prostate cancers. In order to understand the nature of abnormal methylation of the GSTP1 gene in prostate cancer we undertook a detailed analysis of methylation at 131 CpG sites spanning the promoter and body of the gene. Our results show that DNA methylation is not confined to specific CpG sites in the promoter region of the GSTP1 gene but is extensive throughout the CpG island in prostate cancer cells. Furthermore we found that both alleles are abnormally methylated in this region. In normal prostate tissue, the entire CpG island was unmethylated, but extensive methylation was found outside the island in the body of the gene. Loss of GSTP1 expression correlated with DNA methylation of the CpG island in both prostate cancer cell lines and cancer tissues whereas methylation outside the CpG island in normal prostate tissue appeared to have no effect on gene expression.  (+info)

B-MYB transactivates its own promoter through SP1-binding sites. (5/58449)

B-MYB is an ubiquitous protein required for mammalian cell growth. In this report we show that B-MYB transactivates its own promoter through a 120 bp segment proximal to the transcription start site. The B-MYB-responsive element does not contain myb-binding sites and gel-shift analysis shows that SP1, but not B-MYB, protein contained in SAOS2 cell extracts binds to the 120 bp B-myb promoter fragment. B-MYB-dependent transactivation is cooperatively increased in the presence of SP1, but not SP3 overexpression. When the SP1 elements of the B-myb promoter are transferred in front of a heterologous promoter, an increased response to B-MYB results. In contrast, c-MYB, the prototype member of the Myb family, is not able to activate the luciferase construct containing the SP1 elements. With the use of an SP1-GAL4 fusion protein, we have determined that the cooperative activation occurs through the domain A of SP1. These observations suggest that B-MYB functions as a coactivator of SP1, and that diverse combinations of myb and SP1 sites may dictate the responsiveness of myb-target genes to the various members of the myb family.  (+info)

Differential stability of the DNA-activated protein kinase catalytic subunit mRNA in human glioma cells. (6/58449)

DNA-dependent protein kinase (DNA-PK) functions in double-strand break repair and immunoglobulin [V(D)J] recombination. We previously established a radiation-sensitive human cell line, M059J, derived from a malignant glioma, which lacks the catalytic subunit (DNA-PKcs) of the DNA-PK multiprotein complex. Although previous Northern blot analysis failed to detect the DNA-PKcs transcript in these cells, we show here through quantitative studies that the transcript is present, albeit at greatly reduced (approximately 20x) levels. Sequencing revealed no genetic alteration in either the promoter region, the kinase domain, or the 3' untranslated region of the DNA-PKcs gene to account for the reduced transcript levels. Nuclear run-on transcription assays indicated that the rate of DNA-PKcs transcription in M059J and DNA-PKcs proficient cell lines was similar, but the stability of the DNA-PKcs message in the M059J cell line was drastically (approximately 20x) reduced. Furthermore, M059J cells lack an alternately spliced DNA-PKcs transcript that accounts for a minor (5-20%) proportion of the DNA-PKcs message in all other cell lines tested. Thus, alterations in DNA-PKcs mRNA stability and/or the lack of the alternate mRNA may result in the loss of DNA-PKcs activity. This finding has important implications as DNA-PKcs activity is essential to cells repairing damage induced by radiation or radiomimetric agents.  (+info)

Id helix-loop-helix proteins inhibit nucleoprotein complex formation by the TCF ETS-domain transcription factors. (7/58449)

The Id subfamily of helix-loop-helix (HLH) proteins plays a fundamental role in the regulation of cellular proliferation and differentiation. Id proteins are thought to inhibit differentiation mainly through interaction with other HLH proteins and by blocking their DNA-binding activity. Members of the ternary complex factor (TCF) subfamily of ETS-domain proteins have key functions in regulating immediate-early gene expression in response to mitogenic stimulation. TCFs form DNA-bound complexes with the serum response factor (SRF) and are direct targets of MAP kinase (MAPK) signal transduction cascades. In this study we demonstrate functional interactions between Id proteins and TCFs. Ids bind to the ETS DNA-binding domain and disrupt the formation of DNA-bound complexes between TCFs and SRF on the c-fos serum response element (SRE). Inhibition occurs by disrupting protein-DNA interactions with the TCF component of this complex. In vivo, the Id proteins cause down-regulation of the transcriptional activity mediated by the TCFs and thereby block MAPK signalling to SREs. Therefore, our results demonstrate a novel facet of Id function in the coordination of mitogenic signalling and cell cycle entry.  (+info)

Cooperative binding of heat shock factor to the yeast HSP82 promoter in vivo and in vitro. (8/58449)

Previous work has shown that heat shock factor (HSF) plays a central role in remodeling the chromatin structure of the yeast HSP82 promoter via constitutive interactions with its high-affinity binding site, heat shock element 1 (HSE1). The HSF-HSE1 interaction is also critical for stimulating both basal (noninduced) and induced transcription. By contrast, the function of the adjacent, inducibly occupied HSE2 and -3 is unknown. In this study, we examined the consequences of mutations in HSE1, HSE2, and HSE3 on HSF binding and transactivation. We provide evidence that in vivo, HSF binds to these three sites cooperatively. This cooperativity is seen both before and after heat shock, is required for full inducibility, and can be recapitulated in vitro on both linear and supercoiled templates. Quantitative in vitro footprinting reveals that occupancy of HSE2 and -3 by Saccharomyces cerevisiae HSF (ScHSF) is enhanced approximately 100-fold through cooperative interactions with the HSF-HSE1 complex. HSE1 point mutants, whose basal transcription is virtually abolished, are functionally compensated by cooperative interactions with HSE2 and -3 following heat shock, resulting in robust inducibility. Using a competition binding assay, we show that the affinity of recombinant HSF for the full-length HSP82 promoter is reduced nearly an order of magnitude by a single-point mutation within HSE1, paralleling the effect of these mutations on noninduced transcript levels. We propose that the remodeled chromatin phenotype previously shown for HSE1 point mutants (and lost in HSE1 deletion mutants) stems from the retention of productive, cooperative interactions between HSF and its target binding sites.  (+info)

Results Significant hypomethylation of two CpG sites within IFI44L promoter, Site1 (Chr1: 79 085 222) and Site2 (Chr1: 79 085 250; cg06872964), was identified in patients with SLE compared with HCs, patients with RA and patients with pSS. In a comparison between patients with SLE and HCs included in the first validation cohort, Site1 methylation had a sensitivity of 93.6% and a specificity of 96.8% at a cut-off methylation level of 75.5% and Site2 methylation had a sensitivity of 94.1% and a specificity of 98.2% at a cut-off methylation level of 25.5%. The IFI44L promoter methylation marker was also validated in an European-derived cohort. In addition, the methylation levels of Site1 and Site2 within IFI44L promoter were significantly lower in patients with SLE with renal damage than those without renal damage. Patients with SLE showed significantly increased methylation levels of Site1 and Site2 during remission compared with active stage. ...
Gao, L., Smit, M. A., van den Oord, J. J., Goeman, J. J., Verdegaal, E. M. E., van der Burg, S. H., Stas, M., Beck, S., Gruis, N. A., Tensen, C. P., Willemze, R., Peeper, D. S. and van Doorn, R. (2013), Genome-wide promoter methylation analysis identifies epigenetic silencing of MAPK13 in primary cutaneous melanoma. Pigment Cell & Melanoma Research, 26: 542-554. doi: 10.1111/pcmr.12096 ...
The structure of the core promoter region (i.e., DNA sequences flanking the transcription start site and including the TATA, initiator, and downstream elements that interact with the general transcription machinery) of protein-coding genes has an important influence both on the efficiency of basal transcription and on the ability of the core promoter to respond to upstream promoter-bound activators in vivo and in vitro (reviewed in references33, 38, and 46). Although the general transcription machinery has been well characterized, little is known about the factors and mechanisms that control its activity in a core promoter-specific manner. Whereas various factors like E2F, YY1, TFII-I, and USF may regulate transcription not only through upstream promoter elements but also through interactions with the core promoter regions of certain genes (for reviews, see references38 and 50), several components of the basal transcription machinery have intrinsic and more general core promoter-selective ...
The RNA polymerase II (Pol II) core promoter is the strategic site of convergence of the signals that lead to the initiation of DNA transcription1-5, but the downstream core promoter in humans has been difficult to understand1-3. Here we analyse the human Pol II core promoter and use machine learning to generate predictive models for the downstream core promoter region (DPR) and the TATA box. We developed a method termed HARPE (high-throughput analysis of randomized promoter elements) to create hundreds of thousands of DPR (or TATA box) variants, each with known transcriptional strength. We then analysed the HARPE data by support vector regression (SVR) to provide comprehensive models for the sequence motifs, and found that the SVR-based approach is more effective than a consensus-based method for predicting transcriptional activity. These results show that the DPR is a functionally important core promoter element that is widely used in human promoters. Notably, there appears to be a duality between the
We have characterized the 5′ region of the human alpha 1(V) collagen gene (COL5A1). The transcriptional promoter is shown to have a number of features characteristic of the promoters of housekeeping and growth-control-related genes. It lacks obvious TATA and CAAT boxes, has multiple transcription start sites, has a high GC content, lies within a well-defined CpG island and has a number of consensus sites for the potential binding of transcription factor Sp1. This type of promoter structure, while unusual for a collagen gene, is consistent with the broad distribution of expression of COL5A1 and is reminiscent of the promoter structures of the genes encoding type VI collagen, which has a similarly broad distribution of expression. Stepwise deletion of COL5A1 5′ sequences, placed upstream of a heterologous reporter gene, yielded a gradual decrease in promoter activity, indicating that the COL5A1 promoter is composed of an array of cis-acting elements. A minimal promoter region contained ...
Our products have been quoted by publications of Association of CnB 5I/5D promoter gene polymorphism and serum calcineurin levels in early onset of coronary artery disease of south Indian cohort from Gene .
Our results establish that the extent of stable DNA wrapping in RPo depends on the sequence of the promoter and, in particular, on sequence determinants in the upstream region of the promoter (UP elements). The presence of αCTD and an intact α‐linker is required to maintain extensive stable DNA wrapping. Our results further indicate that the sequence of the upstream region of the promoter can affect DNA wrapping even in the absence of αCTD and thus even in the absence of αCTD-DNA interactions. For example, RPo prepared using ΔαCTDI/ΔαCTDII RNAP shows an apparent DNA compaction of 13±0.6 nm at lacUV5(UPfull) but only 4±0.8 nm at lacUV5(ICAP) (Fig 3E,F). We infer that the sequence of the upstream region of the promoter can affect compaction not only through effects on αCTD-DNA interaction but also through other effects. We suggest that these other effects involve intrinsic DNA curvature, noting that UP‐element subsites and UP elements are A/T‐rich sequences (Fig 1A; Ross et al, ...
Dual Luciferase Assay - posted in Molecular Cloning: I am planning to do a dual luciferase assay using the firefly and renilla luciferase vectors. Can someone suggest me a ratio for the co-reporter vectors to be added to the transfection mix. Regards Sankella
The present study describes a novel cell type-specific mechanism of transcriptional regulation of TSP-1 in vascular cells in response to glucose. We report here that unlike our recently identified short promoter region (−280/+66) responsible for the increased THBS1 transcription in ECs, a longer promoter fragment (−1270/+66) is required for THBS1 regulation in HASMCs, as was described for specialized pericytes and mesangial cells.27 Interestingly, glucose responsiveness in ECs was in fact inhibited by the distal fragment of the promoter,10 suggesting the presence of an inhibitory element in this region, which is not active in either VSMCs or mesangial cells.27 The longer promoter region, −1270/+66, responsible for the increased THBS1 transcription in HASMCs contained distinctly different binding elements, as identified by MatInspector, located in the distal end of the promoter. These binding elements had no similarity to those in the EC-specific THBS1 promoter fragment, −280/+66, ...
In this article, we review some of the expression systems that are available for Metabolic Control Analysis and Metabolic Engineering, and examine their advantages and disadvantages in different contexts. In a recent approach, artificial promoters for modulating gene expression in micro-organisms were constructed using synthetic degenerated oligonucleotides. From this work, a promoter library was obtained for Lactococcus lactis, containing numerous individual promoters and covering a wide range of promoter activities. Importantly, the range of promoter activities was covered in small steps of activity change. Promoter libraries generated by this approach allow for optimization of gene expression and for experimental control analysis in a wide range of biological systems by choosing from the promoter library promoters giving, e.g., 25%, 50%, 200%, and 400% of the normal expression level of the gene in question. If the relevant variable (e.g., the flux or yield) is then measured with each of these ...
No. The Promoter Selection Plate is not meant to be used to establish fundamental lentiviral transduction conditions, such as optimal cell density, in your cells of interest. The purpose of the Promoter Selection Plate is to visually assess relative promoter activity. Basic experimental conditions (such as cell density, with or without serum, Polybrene concentration) should be established prior to transduction of viral particles using the SMARTchoice Promoter Selection Plate. The Promoter Selection Plate contains duplicate wells of serially diluted lentiviral particles representing each promoter so that two separate conditions can be tested simultaneously. After identification of the optimal promoter for your cells of interest, additional transduction optimization should be performed to identify appropriate MOIs for optimal shRNA performance ...
An accurate identification of gene promoters remains an important challenge. Computational approaches for this problem rely on promoter sequence attributes that are believed to be critical for transcription initiation. Here we report a probabilistic model that captures two important properties of promoters, not used by previous methods, viz., the location preference and co-occurrence of promoter elements. Additionally, we found that many of the position-specific DNA elements are strongly linked with the function of the gene product. For instance, a highly conserved motif CCTTT at -1 position is strongly associated with protein synthesis, cellular and tissue development. Our comparative analysis of promoter classes reveals that the promoters devoid of CpG islands are more conserved and have fewer alternative transcription start sites. The discovered links between promoter elements and gene function allows us to infer genetic networks from promoter elements. The web server for the PSPA promoter ...
The expression of recombinant proteins in eukaryotic cells requires the fusion of the coding region to a promoter functional in the eukaryotic cell line. Viral promoters are very often used for this purpose. The preceding cloning procedures are usually performed in Escherichia coli and it is therefore of interest if the foreign promoter results in an expression of the gene in bacteria. In the case molecules toxic for humans are to be expressed, this knowledge is indispensable for the specification of safety measures. We selected five frequently used viral promoters and quantified their activity in E. coli with a reporter system. Only the promoter from the thymidine kinase gene from HSV1 showed no activity, while the polyhedrin promoter from baculovirus, the early immediate CMV promoter, the early SV40 promoter and the 5 LTR promoter from HIV-1 directed gene expression in E. coli. The determination of transcription start sites in the immediate early CMV promoter and the polyhedrin promoter confirmed the
In this study, we indicated that the mouse β-chain promoter is functional only in PT18 mouse mast cell line, but not in monomacrophage and lymphoma cell lines. By using a series of 5′-deletion promoter constructs, the cell type-specific promoter was assigned within −69/+103, although a slight decrease in the promoter activity was observed by the deletion of −116/−70. This may suggest the presence of additional cis-enhancing elements recognizing the deleted region. Anyway, by EMSA using antitranscription factor Abs and various competitive oligonucleotides, GATA-1 protein was identified to bind the promoter region (−61/+3) of the β-chain where three possible GATA-1-binding (−53/−48, −46/−51, and −42/−47) and a single possible GATA-1-binding site (−31/−26) are present. Furthermore, reporter assay using PT18 cells (β-chain+, GATA-1+) and coexpression analysis using CV-1 cells (β-chain−, GATA-1−) indicated that those four GATA-1 sites are required for full ...
Fibulin-1 is a multifunctional extracellular protein involved in diverse biological processes including cardiovascular development, haemostasis and cancer. To investigate the transcriptional regulation of the gene encoding fibulin-1 we cloned and analysed about 4.0kb of the 5′-flanking regions of both the human and mouse fibulin-1 genes. The human and mouse fibulin-1 promoters share little sequence similarity except for a short region of approx. 150-170bp immediately upstream of the translation start site. The conserved region contains a TATA-like sequence (ATAATT) and multiple consensus binding sites for Sp1 and activator protein 2 (AP-2). That the short conserved region in each gene confers basal promoter activity is demonstrated by transient transfections of promoter deletion constructs for both the human and mouse genes into cells that express fibulin-1 constitutively. Co-transfections of promoter constructs with expression plasmids for Sp1, Sp3 and Sp4 into Drosophila SL2 cells indicate ...
The mdm2 gene is a target for transcriptional activation by the p53 tumor suppressor gene product. Previous work has revealed that the mouse mdm2 gene contains two promoters: one is located upstream to the gene and is active in the absence of p53, the other resides within the first intron and requires p53 for transcriptional activity. To determine whether this unique promoter activation pattern is biologically important, we investigated the structure and function of the corresponding region of the human mdm2 (hmdm2) gene. We report here that the hmdm2 gene also contains an intronic, p53-dependent promoter. The structural features of this promoter are highly conserved between mouse and man, as opposed to the lack of conservation of the first exon. This promoter is triggered in vivo in the presence of activated wild type p53, leading to the production of novel mRNA species. The intronic hmdm2 promoter contains two tandem p53 binding elements. Deletion analysis suggests that optimal promoter
IL-6 induces PAI-1 mRNA and protein accumulation.13,19 Although several transcription factor binding sites were identified in PAI-1 promoter, no classic inflammatory response element was found. Because promoter activity was increased by IL-6, the IL-6-responsive region was explored. The deletion and site mutation of the region from −239 to −210 bp decreased ,80% of the IL-6-inducible promoter activity, indicating that the region is critical for response. A computer-based database analysis indicated there is a putative C/EBP binding site (−226 to −212 bp). The promoters of most IL-6-inducible acute-phase protein genes have been characterized with C/EBP binding motifs.11 Using competition experiments, EMSA supershift analysis, and DNase I footprinting analysis, a C/EBP motif on PAI-1 promoter was verified, and 3 members of C/EBP family including α, β, and δ were involved in the DNA-protein complex formation. C/EBPβ was involved in the formation of 3 complexes because single-copy ...
Core promoter element analysis is performed in order to investigate the quality of the promoter collection. It exploits the fact that certain DNA motifs preferentially occur at characteristic distances from a TSS. For instance, the TATA-box occurs in a narrow region centered about 28 bp upstream of the TSS whereas the CCAAT-box occurs in a much wider area with a peak frequency at position −80. Based on these observations, we would expect a high-quality promoter collection to show high peaks for both sequence motifs. In addition, a narrow TATA-box peak at −28 would indicate precise TSS mapping. This analysis has been performed using OProf. Readers are encouraged to repeat this anlysis and perform others in order to check for the quality of the promoter list. TATA-box: this core promoter element is normally found 28 bp upstream the transcription start site. The following plot shows that EPDnew promoter collection has a more focused TATA-box distribution compared to Gramene annotation ...
Several mutants derived from transformed human B cell lines are defective in expressing major histocompatibility complex (MHC) class II genes. The failure to express a class II gene in at least one such mutant line has been mapped to the MHC class II X box, a conserved transcriptional element in the promoter region. A complementary DNA encoding a DNA-binding protein (human X box binding protein, hXBP-1) whose target is the human DR alpha X box and the 3 flanking region has now been cloned. This complementary DNA encoded a protein with structural similarities to the c-jun proto-oncogene product, and its target sequence was closely related to the palindromic target sequence of c-jun. Mutation of the hXBP-1 DNA target sequence decreased DR alpha promoter activity in vivo. These studies suggest that the hXBP-1 protein acts as a transcription factor in B cells. ...
REHOVOT, Israel and CUIABÁ, Brazil, Oct. 19, 2016-- Evogene Ltd., a leading biotechnology company for the improvement of crop productivity, and Instituto Mato-grossense do Algodão, a leading developer and marketer of cotton seeds, announced today a collaboration for the discovery and validation of novel genomic promoters to support IMAmts product...
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Binding of transcriptional activators to a promoter is a prerequisite process in transcriptional activation. It is well established that the efficiency of activator binding to a promoter is determined by the affinity of direct interactions between the DNA-binding domain of an activator and its specific target sequences. However, I describe here that activator binding to a promoter is augmented in vivo by the effects of two other determinants that have not been generally appreciated: (i) the number of activator binding sites present in a promoter and (ii) the potency of activation domains of activators. Multiple sites within a promoter can cooperatively recruit cognate factors regardless of whether they contain an effective activation domain. This cooperativity can result in the synergistic activation of transcription. The second effect is the enhancement of activator binding to a promoter by the presence of activation domains. In this case, activation domains are not simply tethered to the ...
Fig. 4. Analysis of the 5′ region of FEZ1 gene. A, primer extension analysis of the transcriptional start site of human FEZ1 gene. Poly(A)+ RNAs from human brain (Lane 1) and breast (Lane 2) were reverse-transcribed with a 5′-radiolabeled, gene-specific primer corresponding with the 1524-1499-bp upstream region from the first translatable methionine. Arrow, TSS, which is 69 bp upstream from the 3′-end of the primer. B, analysis of the human FEZ1 gene 5′ region. Bold bar at the top of the figure indicates the FEZ1 gene locus, in which exons are depicted in boxes. Cross-hatched boxes, deletion mutants used for the luciferase reporter assay. The 5′-end positions of the deleted promoter are indicated as nucleotide numbers from the TSS. C, luciferase reporter assay of the deleted FEZ1 promoter regions. Luciferase reporter plasmids were transfected into Fez1-positive 293 cells to identify the positive regulatory region for FEZ1 transcription. Left, 5′-end positions of the deleted promoter ...
A promoter is a region of DNA that facilitates the transcription of a particular gene. Promoters can be about 100-1000 [nucleotides] long.[1]. A promoter is on the template strand for the gene and near the gene in numbers of nucleotides (nts) along the DNA template strand. Usually, the promoter lies within the string of nucleotides between genes. Some promoters are called constitutive as they are active in all circumstances in the cell, while others are regulated becoming active in response to specific stimuli. These specific stimuli for a gene find a receptive portion within that genes promoter. In the case of genes that are used to produce proteins, the RNA polymerase II holoenzyme that actually performs the transcription from the template strand needs to find chemical cues for attachment to the DNA and where to begin transcription. Preceding this are chemical cues for which DNA strand is the template strand and in what direction transcription is to be performed. A promoter contains cues for ...
A promoter is a region of DNA that facilitates the transcription of a particular gene. Promoters can be about 100-1000 [nucleotides] long.[1]. A promoter is on the template strand for the gene and near the gene in numbers of nucleotides (nts) along the DNA template strand. Usually, the promoter lies within the string of nucleotides between genes. Some promoters are called constitutive as they are active in all circumstances in the cell, while others are regulated becoming active in response to specific stimuli. These specific stimuli for a gene find a receptive portion within that genes promoter. In the case of genes that are used to produce proteins, the RNA polymerase II holoenzyme that actually performs the transcription from the template strand needs to find chemical cues for attachment to the DNA and where to begin transcription. Preceding this are chemical cues for which DNA strand is the template strand and in what direction transcription is to be performed. A promoter contains cues for ...
This invention provides novel chimeric promoter/enhancers. The chimeric promoter/enhancers are particularly suitable for directing gene expression in mammalian cells.
The human aldolase A gene is transcribed from three different promoters, pN, pM, and pH, all of which are clustered within a small 1.6-kbp DNA domain. pM, which is highly specific to adult skeletal muscle, lies in between pN and pH, which are ubiquitous but particularly active in heart and skeletal muscle. A ubiquitous enhancer, located just upstream of pH start sites, is necessary for the activity of both pH and pN in transient transfection assays. Using transgenic mice, we studied the sequence controlling the muscle-specific promoter pM and the relations between the three promoters and the ubiquitous enhancer. A 4.3-kbp fragment containing the three promoters and the ubiquitous enhancer showed an expression pattern consistent with that known in humans. In addition, while pH was active in both fast and slow skeletal muscles, pM was active only in fast muscle. pM activity was unaltered by the deletion of a 1.8-kbp region containing the ubiquitous enhancer and the pH promoter, whereas pN remained ...
The functionality of a 3422-base pair promoter fragment from the mouse α1B-adrenergic receptor (α1BAR) gene was examined. This fragment, cloned from a mouse genomic library, was found to have significant sequence homology to the known human and rat α1BAR promoters. However, the consensus motif of several key cis-acting elements is not conserved among the rat, human, and mouse genes, suggesting species specificity. Confirming fidelity of the murine promoter, robust in vitro expression of a chloramphenicol acetyltransferase (CAT) reporter was detected in known α1BAR-expressing BC3H1, NB41A3, and DDT1MF-2 cells transiently transfected with a promoter-CAT construct. Conversely, minimal CAT expression was detected in known α1BAR-negative RAT-1 and R3T3 cells. These findings were extended by transfecting the same promoter-CAT construct into various primary cell types. In support of the hypothesis that α1ARs are differentially expressed in the smooth muscle of the vasculature, primary cultures of ...
Transcription initiation is an important step in the process of gene regulation in prokaryotes. Promoters are stretches of DNA sequence that are present in the upstream region of transcription start sites (TSSs), where RNA polymerase and other transcription factors bind to initiate transcription. Recent advancement in sequencing technologies has resulted in huge amount of raw data in the form of whole genome sequences. This sequence data has to be annotated, in order to identify coding, non-coding and regulatory regions. Computational tools are useful for a quick and fairly reliable annotation of many genome sequences. Promoter prediction is an important step in genome annotation process which is needed, not only for the validation of predicted genes, but also for the identification of novel genes, especially those coding for non-coding RNA, which are missed by gene prediction programs. DNA sequence dependent structural properties such as DNA duplex stability, bendability and intrinsic ...
Diversity in rates of gene expression is essential for basic cell functions and is controlled by a variety of intricate mechanisms. Revealing general mechanisms that control gene expression is important for understanding normal and pathological cell functions and for improving the design of expression systems. Here we analyzed the relationship between general features of genes and their contribution to expression levels. Genes were divided into four groups according to their core promoter type and their characteristics analyzed statistically. Surprisingly we found that small variations in the TATA box are linked to large differences in gene length. Genes containing canonical TATA are generally short whereas long genes are associated with either non-canonical TATA or TATA-less promoters. These differences in gene length are primarily determined by the size and number of introns. Generally, gene expression was found to be tightly correlated with the strength of the TATA-box. However significant reduction
Promoter Gene software free downloads. Promoter Gene shareware, freeware, demos: Gene Inspector by Textco BioSoftware Inc, Page Promoter by NetPromoter, Meta Tag Promoter by NetPromoter etc...
I am currently studying the regulation of several mammalian (mouse and human) promoters. Of obvious interest are known transcription factor binding sites. Since I wouldnt know an AP-1 site from an EcoRI site, I was hoping there might be a computer program on the net that would analyze a submitted sequence for consensus recognition sites. Does anyone out there have any advice? At this point, even a simple list of known consensus sites would be better than nothing. Thanks in advance, Benjamin S. Braun UCLA ...
RESULTS: A percentage of 36.17% controls and 38.6% patients were heterozygosis, considering Amplification-refractory mutation system (ARMS)-PCR assay while 23% and 22.85% were heterozygosis using Mismatch Amplification Mutation Assay (MAMA)-PCR. On the contrary, 1.3% and 1.4% were homozygosis A, while 75.7% and 75.75% presented homozygosis G, taking into account the MAMA-PCR results. The two assays were significantly different (P=0.0004 at χ2 Test), but MAMA-PCR showed a better performance for TNF-α -308 G/A gene polymorphism investigation ...
Potential binding sites of transcription factors are an example of biological event sequences where co-occurrence patterns and burstiness occur. We applied our techniques on 10 Mbp regions from human chromosomes 1-10 [11] (NCBI 36 assembly), where we identified potential binding sites as matches to known transcription factor binding motifs. The regions 30 - 40 Mbp were used for chromosomes 1-9, and 20 - 30 Mbp for chromosome 10, to avoid the centromere region. This dataset contains genome regions with different characteristics (e.g., C+G and gene densities), while being compact enough to be efficiently studied with several null models and window sizes. The motifs we consider are from the Jaspar collection [12] (Jaspar Core), all 138 motifs in the 2008 build. In these sequences we identified all matches for each Jaspar transcription factor (TF) matrix by the PoSSuMsearch program [13]. The threshold for a match was set with p ≤ 10-5, yielding approximately 30000 matches for each 10 Mbp sequence. ...
In article ,310FF66A.A0A at ulam.generes.ca,, kalch ,kalch at ulam.generes.ca, wrote: , Hi, , we are trying to map promoter elements from known DNA sequence. , However, we find that the DNA analysis programs we have in the lab , (MacVector and GeneWorks) are not suitable for this analysis. Could , someone please post (or respond to me directly) where I can send (or , download) a program that will search for promoter elements (e.g. , Sp1, ERE, AP1, AP2, etc)? , , Thanks, , , Michael MacVector does do this (Im not saying that it does it well, but it has the ability). I think that the newer versions ship with a transcription factor subsequence file that has over 600 sites bound by proteins in promoter regions. You just have to do a nucleic acid subsequence search. I ran a test against the junD promoter and it found all the sites that had been mapped by Shaul etal when they cloned it (except the TATA box. Im not sure why it didnt find that as one of the subsequences is exactly the same sequence ...
Generation of mutant mice. In the strategy of IMCT (Kobayashi et al., 1995), transgenic (Tg) mice are generated that express the human interleukin-2 receptor α-subunit (IL-2Rα) under the control of a cell type-specific promoter. These mice are then treated with a recombinant immunotoxin (IT), which is composed of the variable regions of the anti-IL-2Rα monoclonal antibody and a bacterial exotoxin fragment. The transgene construct contained a 10 kb DNA fragment encoding the 5′-flanking region of the mouse neuropsin (NP) gene (Hirata et al., 2001), the second intron of the rabbit β-globin gene (Kobayashi et al., 1992), the gene cassette encoding IL-2Rα fused to green fluorescent protein (IL-2Rα/GFP) (Watanabe et al., 1998), and the polyadenylation signals of the rabbit β-globin gene and simian virus 40 early gene (Kobayashi et al., 1992). The construct was microinjected into fertilized mouse eggs, which were then implanted into pseudopregnant females. Tg mice were identified by Southern ...
Promoters. Oriane Broustal BIO 535. Promoters. About promoters ( structure, function,…) Two types of human promoters based on CG content Bidirectional promoters in human genome. Questions:. What are the differences between eukaryotic and prokaryotic promoters? Slideshow 5386988 by ivana
Promoter elements play important roles in isoform and cell type-specific expression. We surveyed the epigenomic promoter landscape of gastric adenocarcinoma, analyzing 110 chromatin profiles (H3K4me3, H3K4me1, H3K27ac) of primary gastric cancers, gastric cancer lines, and nonmalignant gastric tissues. We identified nearly 2,000 promoter alterations (somatic promoters), many deregulated in various epithelial malignancies and mapping frequently to alternative promoters within the same gene, generating potential pro-oncogenic isoforms (RASA3). Somatic promoter-associated N-terminal peptides displaying relative depletion in tumors exhibited high-affinity MHC binding predictions and elicited potent T-cell responses in vitro, suggesting a mechanism for reducing tumor antigenicity. In multiple patient cohorts, gastric cancers with high somatic promoter usage also displayed reduced T-cell cytolytic marker expression. Somatic promoters are enriched in PRC2 occupancy, display sensitivity to EZH2 ...
Parts produced from this project: Bacterial-Mammalian/B-M (PyeaR-CArG) Hybrid Promoter -- Mammalian-Bacterial/M-B (CArG-PyeaR) Hybrid Promoter -- B-M + eCFP -- B-M + RFP -- M-B + eCFP -- M-B + RFP Our main project has resulted in the production of a hybrid bacterial and mammalian promoter optimised for induction by nitric oxide, nitrates and nitrites. We have ligated PyeaR, a known bacterial promoter and Part BBa_K216005 (Cambridge 2009) in the parts registry, with its mammalian counterpart, CArG. The resulting hybrid promoter has been synthesised in two orientations; PyeaR (bacterial, B) upstream of CArG (mammalian, M), nicknamed (B-M); and CArG upstream of PyeaR (M-B). These orientations were submitted to the parts registry as our first two biobricks. Each orientation of the promoter was ligated to enhanced cyan fluorescent protein (eCFP) and red fluorescent protein (RFP) to produce four new biobricks which have been submitted to the parts registry. These promoter + fluorescent protein ...
The hINV basal promoter, which encodes forty one nucleotides upstream of the transcription commence web site and no AP1 web sites, is not controlled by TAM67
Use this page to investigate EPDnew promoters for their chromatin status or motifs enrichment/distribution with our tools. If you want to restrict the analysis to a subset of promoters please use the promoter selection tool page. ...
The double truncation constructs, P3 and P4, are both lacking 449 nts immediately upstream the ATG translation start codon. The absence of this region does not seem to be critical for promoter functionality, since the activity was comparable to the full-length construct (Sps1) and other mutants (Sps2-Sps6) all of which include these initial 449 upstream nts at their 3 end. As concluded from P3, the removal of nts upstream 1167 from the 5 end did not reduce activity. Therefore a series of 5-truncations were made to narrow the critical promoter region. Up to construct Sps6 which includes nts 1-763 no significant reduction was observed whereas a dramatic loss near almost background levels was noticed for the shorter constructs Sps7 to Sps11. Since construct Sps5, containing 910 nts, exhibits full activity, this 5 end was considered critical and additional constructs were designed by successively truncating 3 nts (ds13-ds17). The four long constructs dS13 - dS16 showed fairly high promoter ...
I want to do a ChIP assay with an antibody against acetylated histone h3. I did a cDNA microarray before and now I want to check if the genes I found there are really regulated by histone acetylation. Thats why I want to do quantitative realtime PCR after the ChIP. The problem is (correct me if I am wrong) that I now have to design primer in the promoter region. And I have no idea how I can do this. Actually I do not even know how to search for the promoter region ...
PR is a classical estrogen-regulated gene (1, 2) and is frequently used as a surrogate marker for functional ERα activity. PR exists in 2 isoforms, PRA and PRB, which are the result of transcription from 2 alternative promoters, and initiation of translation at 2 different AUG codons (3). Structurally, PRB differs from PRA only in that the B receptor contains an additional 164 amino acids at the N-terminus of the protein (4). Despite structural similarities, PRA and PRB possess different functional activities. PRB has been found to be a stronger transcriptional activator than PRA, due in part to a third activation domain (AF-3) within the N-terminal 164 amino acids (5). On the other hand, PRA has been shown to act as a repressor which can inhibit other receptors, including ER and PRB (6). PRA and PRB regulate different sets of genes-of 94 progesterone-regulated genes, 65 were uniquely regulated by PRB, 4 uniquely by PRA, and only 25 by both (7). Moreover, the unliganded PR can regulate gene ...
Recent analysis of a Gal4 mutant (Gap71) carrying three point mutations (S22D, K23Q and K25F) in its DNA-binding domain (DBD), has demonstrated that it cannot occupy GAL promoters efficiently in cells and that it is not mono-ubiquitylated, suggesting a functional link between this modification and stable DNA binding in cells. The mechanistic underpinning of this phenotype is that this protein is hypersensitive to a newly discovered activity of the proteasomal ATPases--their ability to actively dissociate transcription factor-DNA complexes after direct interaction with the activation domain. In this paper, we examine the roles of each of the three point mutations contained in Gap71 individually. These experiments have revealed that serine 22 is a site of phosphorylation in the Gal4 DBD and that lysine 23 is essential for S22 phosphorylation, possibly acting as part of the kinase recognition site. Mutation of either residue blocks Gal4 DBD phosphorylation, its subsequent ubiquitylation and ...
As an anti-inflammatory mediator IL10 is beneficial in certain contexts and deleterious in others. As increased production of IL10 favours protection against inflammatory disease, whereas low production promotes elimination of foreign pathogens by the host, we investigated the possible influence of balancing selection at this locus. We began by resequencing 48 European and 48 African chromosomes across 2.2 kb of the IL10 promoter region, and compared this with four neighbouring gene regions: MK2, IL19, IL20 and IL24. Analysis of nucleotide diversity showed a positive Tajimas D-test for IL10 in Europeans, of borderline statistical significance (1.89, P=0.05). Analysis of F(st) values showed significant population divergence at MK2, IL19, IL20 and IL24 (P,0.01) but not at IL10. Taken together, these findings are consistent with the hypothesis that balancing selection has played a role in the evolution of polymorphisms in the IL10 promoter region.. ...
This interaction may be competed off with unlabelled oligo and supershifted making use of the YB one antibody. To further dissect YB one binding inside the 2a area we developed biotin labelled oligonucleotides during which the YB one responsive aspects had been mutated at 968, 940 or both web sites. Dropping either in the YREs resulted in significantly less YB 1 binding com pared with the wild form EGFR promoter sequence. These data verify that the 968 and 940 binding web sites are bona fide YREs. With each other these data demonstrate that YB 1 is ready to bind on the initial 1 kb with the EGFR promoter, and this leads to transactivation inside a phosphorylation dependent method. Offered on-line material 9 five R61 Figure five Y box binding protein 1 binds to distinct web pages inside the epidermal development aspect receptor promoter.. AVL292 Sequence of your EGFR2a oligonucleotide used in the gel shift assays. Highlighted sequences will be the possible YB 1 binding websites. The substitutions ...
Figure 1. Promoter activity varies across several human and rodent cell lines. Cells were plated at a density of 50,000 cells per well in a 24-well plate and transduced at MOI = 15 with SMARTvector Empty Vector Control Particles expressing TurboGFP. Promoter activity was assessed at 72 hours post-transduction by the fluorescence intensity of TurboGFP.. If you are uncertain of relative promoter activity in your cells, the Dharmacon SMARTchoice Promoter Selection Plate and the SMARTchoice Inducible Non-targeting Control 4-pack allow straightforward identification of the optimal promoter in your cells of interest.. ...
TY - JOUR. T1 - Patterns of gene promoter methylation in squamous cell cancer of the head and neck. AU - Hasegawa, Masayuki. AU - Nelson, Heather H.. AU - Peters, Edward. AU - Ringstrom, Elin. AU - Posner, Marshall. AU - Kelsey, Karl T.. N1 - Funding Information: Supported by: CA78609, ES08357, ES00002 and 1P01-DE12467-05.. PY - 2002/6/20. Y1 - 2002/6/20. N2 - Promoter methylation is an important pathway in transcriptional silencing of known and candidate tumor suppressor genes in Head and Neck Squamous Cell Carcinoma (HNSCC). In order to study the association of tumor suppressor gene promoter methylation in HNSCC with patient clinical characteristics, especially alcohol consumption and tobacco smoking, we examined promoter methylation of the p16INK4a, DAP-kinase, E-Cadherin, and RASSF1A genes using methylation-specific PCR (MSP) in 80 patients. The prevalence of p16INK4a, DAP-kinase, E-Cadherin, and RASSF1A promoter methylation was 26/80 (32.5%), 19/80 (23.8%), 29/80 (36.3%), 6/80 (7.5%) ...
TY - JOUR. T1 - ApoE -491A/T promoter polymorphism is not an independent risk factor, but associated with the ε4 allele in Hungarian Alzheimers dementia population. AU - Juhász, Anna. AU - Palotás, András. AU - Janka, Zoltán. AU - Rimanóczy, Ágnes. AU - Palotás, Miklós. AU - Bódi, Nikoletta. AU - Boda, Krisztina. AU - Zana, Marianna. AU - Vincze, Gábor. AU - Kálmán, János. PY - 2005/5/1. Y1 - 2005/5/1. N2 - Apolipoprotein E gene (Apoε) has three common alleles (ε2, ε3, and ε4), of which ε4 has been shown to be associated with an increased risk for Alzheimers disease (AD). Possible additional genetic factors, like the -491A variant of ApoE promoter may modify the development of AD, independently of the ApoE allele status. The objective of this study was to investigate whether A/T allelic polymorphism at site-491 of the ApoE promoter is associated with AD in a Hungarian population. The genomic DNA isolated from peripheral blood lymphocytes of 52 late-onset AD and 53 control ...
BTG3/ANA/APRO4 has been reported to be a tumor suppressor gene in some malignancies. It constitutes important negative regulatory mechanism for Src-mediated signaling, a negative regulator of the cell cycle and inhibits transcription factor E2F1. We report that BTG3 is downregulated in renal cancer and that the mechanism of inactivation is through promoter hypermethylation. Quantitative real-time polymerase chain reaction (PCR) showed that BTG3 was downregulated in cancer tissues and cells. Genistein and 5-aza-2-deoxycytidine (5Aza-C) induced BTG3 messenger RNA (mRNA) expression in A498, ACHN and HEK-293 renal cell carcinoma (RCC) cell lines. Bisulfite-modified PCR and DNA sequencing results showed complete methylation of BTG3 promoter in tumor samples and cancer cell lines. Genistein and 5Aza-C treatment significantly decreased promoter methylation, reactivating BTG3 expression. Chromatin immunoprecipitation assay revealed that genistein and 5Aza-C increased levels of acetylated histones 3, 4, ...
TY - JOUR. T1 - Assessment of gene promoter hypermethylation for detection of cervical neoplasia. AU - Wisman, G. Bea A.. AU - Nijhuis, Esther R.. AU - Hoque, Mohammad O.. AU - Reesink-Peters, Nathalie. AU - Koning, Alice J.. AU - Volders, Haukeline H.. AU - Buikema, Henk J.. AU - Boezen, H. Marike. AU - Hollema, Harry. AU - Schuuring, Ed. AU - Sidransky, David. AU - Van Der Zee, Ate G.J.. PY - 2006/10/15. Y1 - 2006/10/15. N2 - Current cervical cancer screening is based on morphological assessment of Pap smears and associated with significant false negative and false positive results. Previously, we have shown that detection of hypermethylated genes in cervical scrapings using quantitative methylation-specific PCR (QMSP) is a promising tool for identification of squamous cell cervical cancer. Aim of the present pilot-study was to evaluate presence of hypermethylated genes in cervical carcinogenesis, both in squamous cell as well as adenocarcinomas. Cervical scrapings were obtained from 30 ...
TY - JOUR. T1 - Exendin-4 as a stimulator of rat insulin I gene promoter activity via bZIP/CRE interactions sensitive to serine/threonine protein kinase inhibitor Ro 31-8220. AU - Chepurny, Oleg G.. AU - Hussain, Mehboob A.. AU - Holz, George G.. PY - 2002. Y1 - 2002. N2 - Signal transduction properties of exendin-4 (Ex-4) underlying its ability to stimulate rat insulin I gene promoter (RIP1) activity were assessed in the pancreatic β-cell line INS-1. Ex-4 acted via glucagon-like peptide-1 receptors to stimulate RIP1 in a glucose-dependent manner, as measured in cells transfected with a -410-bp RIP1-luciferase construct (RIP1-Luc). The action of Ex-4 was independent of cAMP and PKA because it was not blocked by cotransfection with dominant-negative Gαs, was unaffected by pretreatment with the membrane-permeant cAMP antagonist 8-Br-Rp-cAMPS, and remained apparent after treatment with PKA inhibitors H-89 or KT 5720. Similarly, cotransfection with a dominant-negative isoform of the type-2 ...
The vaccinia virus early transcription factor (VETF), in addition to the viral RNA polymerase, is required for efficient transcription of early genes in vitro. VETF is a heterodimeric protein that binds specifically to early gene promoters. In order to localize the VETF DNA binding domain, we have used photoreactive oligonucleotide probes with the sequence of the vaccinia virus growth factor promoter. The probes consisted of double-stranded oligonucleotides incorporating radiolabeled dAMP and 5-bromo-dUMP into sequences of the promoter known to contact VETF. Irradiation of a DNA probe having these nucleotides located upstream of the transcription start site in the presence of VETF resulted in the transfer of label to a polypeptide that comigrated with the small subunit of VETF. The label transfer reaction was shown to occur with the recombinant VETF small subunit in the absence of the large subunit. These results indicate that the small subunit comprises at least part of the VETF DNA binding ...
The physiological role of TFIIA was investigated by analyzing transcription in a yeast strain that contains a TATA-binding protein (TBP) mutant (N2-1) defective for interacting with TFIIA. In cells containing N2-1, transcription from a set of artificial his3 promoters dependent on different activators is generally reduced by a similar extent, indicating that TFIIA function is largely nonselective for activators. In addition, TATA element utilization, a core promoter function, is altered at his3 promoters dependent on weak activators. Genomic expression analysis reveals that 3% of the genes are preferentially affected by a factor of 4 or more. Chimeras of affected promoters indicate that the sensitivity to the TFIIA-TBP interaction can map either to the upstream or core promoter region. Unlike wild-type TBP or TFIIA, the N2-1 derivative does not activate transcription when artificially recruited to the promoter via a heterologous DNA binding domain, indicating that TFIIA is important for transcription
Differential usage of several transcription start sites in the human GnRH receptor gene was evident in human brain and pituitary. To locate the promoter responsible for a cluster of the 3′ CAP sites from -635 to -578 (relative to ATG) found in the pituitary, a proximal promoter element was identified at -677/-558 by 5′ and 3′ deletion mutant analysis. The promoter element drove a 13.1 ± 0.6-fold increase in reporter gene activity in an orientation-dependent manner in the mouse gonadotrope-derived αT3-1 cells. Within the core promoter element, two functional AT-rich Inr motifs, interacting with the same protein factor with different affinities, were identified. By Southwestern blot analysis and competitive gel mobility shift assays, multiple nuclear factors (36-150 kDa) were found to interact specifically with the core promoter element. Interestingly, these nuclear proteins also interacted with a previously identified distal promoter of the human GnRH receptor gene. Taken together, our ...
Lab Reagents Human IgG antibody Laboratories manufactures the single or dual luciferase assay reagents distributed by Genprice. The Single Or Dual Luciferase Assay reagent is RUO (Research Use Only) to test human serum or cell culture lab samples. To purchase these products, for the MSDS, Data Sheet, protocol, storage conditions/temperature or for the concentration, please contact luciferase assay. Other Single products are available in stock. Specificity: Single Category: Or Group: Dual Luciferase. Dual Luciferase information ...
title: RANTES gene promoter polymorphisms are associated with bronchial hyperresponsiveness in Korean children with asthma, doi: 10.1007/s00408-007-9049-3, category: Article
Succinoglycan (EPS I), the main acidic exopolysaccharide of Sinorhizobium meliloti, is required for the initiation and elongation of infection threads during nodulation of the host plant alfalfa. The gene products of the exoYFQ operon are involved in the first step of succinoglycan biosynthesis as well as in the polymerisation of subunits to the high-molecular-mass form of this exopolysaccharide. One promoter region that directs transcription of exoX and two promoter regions that drive transcription of exoY were mapped in the exoX-exoY intergenic region. The distal exoY promoter region containing three putative -10 promoter elements was active under standard growth conditions and was subject to ExoR-dependent regulation. Although this promoter region was stimulated in a phoB mutant, no PHO box-like sequences were found, suggesting an indirect regulatory effect of PhoB. The proximal promoter contains a PHO box-like sequence in the putative - 35 region and was affected by low and high phosphate ...
TY - JOUR. T1 - Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch. AU - Liu, Nan. AU - Hargreaves, Victoria V.. AU - Zhu, Qian. AU - Kurland, Jesse V.. AU - Hong, Jiyoung. AU - Kim, Woojin. AU - Sher, Falak. AU - Macias-Trevino, Claudio. AU - Rogers, Julia M.. AU - Kurita, Ryo. AU - Nakamura, Yukio. AU - Yuan, Guo Cheng. AU - Bauer, Daniel E.. AU - Xu, Jian. AU - Bulyk, Martha L.. AU - Orkin, Stuart H.. N1 - Funding Information: We thank Peter Skene and Steven Henikoff for advice on protocols for CUT&RUN, Birgit Knoechel for assistance with DNA sequencing, and Paul Bruno for improvements in protein purification. We appreciate the generosity of Merlin Crossley for sharing findings during the evolution of these studies. Fluorescence polarization experiments were performed at the Institute for Chemistry and Cell Biology-Longwood Screening Facility at HMS. Octet experiments were performed at the Center for Macromolecular Interactions in the Department of Biological ...
cytosol, nucleus, centromeric DNA binding, chromatin binding, DNA replication origin binding, RNA polymerase II core promoter proximal region sequence-specific DNA binding, sequence-specific DNA binding, transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding, transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding, anatomical structure morphogenesis
A factor, present in transcriptionally active extracts prepared from purified vaccinia virus particles, binds to vaccinia early promoter sequences. The specificity of binding was demonstrated by electrophoretic mobility shift assays using the 5-terminal segments of two early genes and related and unrelated competitor DNA fragments. DNase I footprint analysis indicated that the factor formed a complex with promoter regions of both genes and protected sequences of 10-15 nucleotides centered 21-24 nucleotides upstream of the RNA start sites. The lack of protection of a late regulatory sequence and of an early promoter with transcriptionally inactivating single-nucleotide substitutions suggested that the protein is an early transcription factor. When subjected to glycerol gradient centrifugation, the DNA-binding factor was resolved from RNA polymerase and sedimented as a 7.5S species with an estimated molecular weight of 130,000. ...
Tumor‑specific promoter hypermethylation of large tumor suppressor, homolog 2 (LATS2), a tumor suppressor gene, has been investigated using methylation‑specific polymerase chain reaction (MSP) assays in different types of human cancer producing conflicting results. The aim of the present study was to evaluate the methylation status of the LATS2 promoter region using bisulfite sequencing with a next generation sequencer for breast cancer. In the 11 patients enrolled in the present study, the LATS2 promoter methylation index (MI) was uniformly high in tumor and normal tissues of the breast (median, 84.0 and 87.4%, respectively). The presence of LATS2 promoter hypermethylation was confirmed in isolated tumor cells and normal epithelial cells using the magnetic‑activated cell sorting method. In situ hybridization for LATS2 messenger RNA (mRNA) revealed that the mRNA expression of LATS2 was higher in normal epithelial cells, compared with tumor cells, however, it was not significantly ...
Transgenic techniques offer a valuable tool for determining gene functions. Although various promoters are available for use in gene overexpression, gene knockdown, and identification of transgenic individuals, there is nevertheless a lack of versatile promoters for such studies, and this dearth acts as a bottleneck, especially with regard to nonmodel organisms. Here, we succeeded in identifying a novel strong and ubiquitous promoter/enhancer in the silkworm. We identified a unique silkworm strain whose reporter gene showed strong and ubiquitous expression during the establishment of enhancer trap strains. In this strain, the transposon was inserted into the 5′UTR of hsp90, a housekeeping gene that is abundantly expressed in a range of tissues. To determine whether the promoter/enhancer of hsp90 could be used to induce strong gene expression, a 2.9-kb upstream genomic fragment of hsp90 was isolated (hsp90P2.9k), and its transcriptional activation activity was examined. Strikingly, hsp90P2.9k ...
Dual luciferase assay - proper controls? - posted in Cell Biology: Hey everyone, I am trying to perform a dual luciferase reporter assay in a cell line with promoters established from another cell line. cDNA and protein of the gene are present in both cell lines. Problem: In the new cell line, the luciferase activity for my promoters of interest is below pGL3, whereas TKpGL3 is as highly active as in the other cell line. Renilla activity was equal in all probes. So I am looking for appr...
In plant genetic engineering, the identification of gene promoters leading to particular expression patterns is crucial for the development of new genetically modified plant generations. This research was conducted in order to isolate and characterize several new promoters from cassava (Manihot esculenta Crantz) elongation factor 1 alpha (EF1A) gene family. Three promoters MeEF1A3, MeEF1A4 and MeEF1A5 were successfully isolated. Sequence analyses showed that all of the promoters contain three conserved putative cis-acting elements which are located upstream of the transcription start site. These elements are included a TEF1, a TELO and TATA boxes. In addition, all of the promoters also have the 5′UTR intron but with a different lengths. These promoters were constructed translationally with gusAreporter gene (promoter::gusA fusion) in pBI-121 binary vector to build a new binary vector using Overlap Extension PCR Cloning (OEPC) technique. Transient expression assay that was done by using ...
The tRNA(m5U54)methyltransferase, whose structural gene is designated trmA, catalyzes the formation of 5-methyluridine in position 54 of all tRNA species in Escherichia coli. The synthesis of this enzyme has previously been shown to be both growth rate dependent and stringently regulated, suggesting regulatory features similar to those of rRNA. We have determined the complete nucleotide sequence of the trmA operon in E. coli and the sequence of the trmA promoter region in Salmonella typhimurium and also analyzed the transcriptional regulation of the gene. The trmA and the btuB (encoding the vitamin B12 outer membrane receptor protein) promoters are divergent promoters separated by 102 bp between the transcriptional start sites. The trmA promoters of both E. coli and S. typhimurium share promoter elements with the rRNA P1 promoter. The sequence downstream from the -10 region of the trmA promoter is homologous to the discriminatory region found in stringently regulated promoters. Next to and ...
Background:Tumour-released DNA in blood represents a promising biomarker for cancer detection. Although epigenetic alterations such as aberrant promoter methylation represent an appealing perspective, the discordance existing between frequencies of alterations found in DNA extracted from tumour tissue and cell-free DNA (cfDNA) has challenged their practical clinical application. With the aim to explain this bias of agreement, we investigated whether protocadherin 10 (PCDH10) promoter methylation in tissue was associated with methylation pattern in matched cfDNA isolated from plasma of patients with colorectal cancer (CRC), and whether the strength of concordance may depend on levels of cfDNA, integrity index, as well as on different clinical-pathological features.Methods:A quantitative methylation-specific PCR was used to analyse a selected CpG site in the PCDH10 promoter of 67 tumour tissues, paired normal mucosae, and matched plasma samples. The cfDNA integrity index and cfDNA concentration ...
OBJECTIVE: Inactivating mutations in glucokinase (GCK) cause mild fasting hyperglycemia. Identification of a GCK mutation has implications for treatment and prognosis; therefore, it is important to identify these individuals. A significant number of patients have a phenotype suggesting a defect in glucokinase but no abnormality of GCK. We hypothesized that the GCK beta-cell promoter region, which currently is not routinely screened, could contain pathogenic mutations; therefore, we sequenced this region in 60 such probands. RESEARCH DESIGN AND METHODS: The beta-cell GCK promoter was sequenced in patient DNA. The effect of the identified novel mutation on GCK promoter activity was assessed using a luciferase reporter gene expression system. Electrophoretic mobility shift assays (EMSAs) were used to determine the impact of the mutation on Sp1 binding. RESULTS: A novel -71G|C mutation was identified in a nonconserved region of the human promoter sequence in six apparently unrelated probands. Family testing
Incubation of 3T3-L1 preadipocytes with isobutylmethylxanthine (IBMX), dexamethasone, and insulin, alone or in combination, demonstrated that IBMX, which increased cAMP-response element-binding protein (CREB) phosphorylation, was the predominant regulator of Pde3b expression. Real time PCR and immunoblotting indicated that in 3T3-L1 preadipocytes, IBMX-stimulated induction of Pde3b mRNA and protein was markedly inhibited by dominant-negative CREB proteins. By transfecting preadipocytes, differentiating preadipocytes, and HEK293A cells with luciferase reporter vectors containing different fragments of the 5- flanking region of the Pde3b gene, we identified a distal promoter that contained canonical cis-acting cAMP-response elements (CRE) and a proximal, GC-rich promoter region, which contained atypical CRE. Mutation of the CRE sequences dramatically reduced distal promoter activity; H89 inhibited IBMX-stimulated CREB phosphorylation and proximal and distal promoter activities. Distal promoter ...
Background: Conventional wisdom holds that, owing to the dominance of features such as chromatin level control, the expression of a gene cannot be readily predicted from knowledge of promoter architecture. This is reflected, for example, in a weak or absent correlation between promoter divergence and expression divergence between paralogs. However, an inability to predict may reflect an inability to accurately measure or employment of the wrong parameters. Here we address this issue through integration of two exceptional resources: ENCODE data on transcription factor binding and the FANTOM5 high-resolution expression atlas. Results: Consistent with the notion that in eukaryotes most transcription factors are activating, the number of transcription factors binding a promoter is a strong predictor of expression breadth. In addition, evolutionarily young duplicates have fewer transcription factor binders and narrower expression. Nonetheless, we find several binders and cooperative sets that are ...
Conventional wisdom holds that, owing to the dominance of features such as chromatin level control, the expression of a gene cannot be readily predicted from knowledge of promoter architecture. This is reflected, for example, in a weak or absent correlation between promoter divergence and expression divergence between paralogs. However, an inability to predict may reflect an inability to accurately measure or employment of the wrong parameters. Here we address this issue through integration of two exceptional resources: ENCODE data on transcription factor binding and the FANTOM5 high-resolution expression atlas. Consistent with the notion that in eukaryotes most transcription factors are activating, the number of transcription factors binding a promoter is a strong predictor of expression breadth. In addition, evolutionarily young duplicates have fewer transcription factor binders and narrower expression. Nonetheless, we find several binders and cooperative sets that are disproportionately associated
The family of repeats (FR) is a major upstream enhancer of the Epstein-Barr virus (EBV) latent C promoter (Cp) that controls transcription of six different latent nuclear proteins following interaction with the EBV nuclear protein EBNA1. Here, it was shown that Cp could also be activated by octamer-binding factor (Oct) proteins. Physical binding to the FR by the cellular transcription factors Oct-1 and Oct-2 was demonstrated by using an electrophoretic mobility-shift assay. Furthermore, Oct-1 in combination with co-regulator Bob.1, or Oct-2 alone, could drive transcription of a heterologous thymidine kinase promoter linked to the FR in both B cells and epithelial cells. Cp controlled by the FR was also activated by binding of Oct-2 to the FR. This may have direct implications for B cell-specific regulation of Cp.
In this large cohort, we found TERT promoter mutations to be common, particularly in FTC and BRAF mutation-positive PTC, and associated with aggressive clinicopathological characteristics.
The upstream regions of the human CYP11A and bovine CYP11B genes [have] a distal promoter in each gene. The distal promoters are located at −1.8 to −1.5 kb in the upstream region of the CYP11A gene and −1.5 to −1.1 kb in the upstream region of the CYP11B gene.[11] Using cloned chicken βA-globin genes, either individually or within the natural chromosomal locus, enhancer-dependent transcription is achieved in vitro at a distance of 2 kb with developmentally staged erythroid extracts. This occurs by promoter derepression and is critically dependent upon DNA topology. In the presence of the enhancer, genes must exist in a supercoiled conformation to be actively transcribed, whereas relaxed or linear templates are inactive. Distal protein-protein interactions in vitro may be favored on supercoiled DNA because of topological constraints.[12] Distal promoter regions may be a relatively small number of nucleotides, fairly close to the TSS such as (-253 to -54)[13] or several regions of ...
The Pem gene encodes an atypical homeodomain protein, distantly related to Prd/Pax family members, that we demonstrate is regulated in a complex transcriptional and post-transcriptional manner. We show that the rat Pem genomic structure includes three 5-untranslated (5-UT) exons and four coding exons, three of which encode the homeodomain. Several alternatively spliced transcripts were identified, including one that skips an internal coding exon, enabling this mRNA to express a novel form of the Pem protein. Other alternatively spliced mRNAs were characterized that possess different 5-UT regions, including a muscle-specific transcript. The different 5-UT termini present in Pem transcripts conferred different levels of translatability in vitro. Two promoters containing multiple transcription initiation sites were identified: a distal promoter (Pd) in the first 5-UT exon and a proximal promoter (Pp) located in the intron upstream of the first coding exon. The Pd was active in placenta, ovary, tumor
Results In vivo, the Saa3-promoter reporter activity was strongly upregulated at 1 and 2 days after the first and second SCW challenge. The Saa3-promoter activities during acute inflammation correlated with Tc uptake measurements but were more sensitive and able to respond to the ongoing synovitis in the chronic phase of SCW arthritis. Molecular stratification defined two inflammatory SF subtypes, unrelated to disease classification. Relative Saa3-promoter responses to interleukin 1β, tumour necrosis factor α and TLR4 agonist were significantly increased in OA/RA SF with a high compared to a low inflammatory profile subtype. Serum stimulation of the Saa3-promoter reporter cell-line could distinguish between healthy and RA patients.. ...
Naively, promoter strength is a function of 3 variables: holoenzyme affinity for promoter, equilibrium between closed and open complex and efficiency/frequency of promoter escape (this includes all events between opening of DNA helix and clearance of the promoter - in particular initiating synthesis of the first phosphodiester bond, idling/stuttering leading to the generation of nonproductive RNA oligos and finally clearance of the promoter). In the absence of activation/repression, the -40 to +15 region controls all 3 of these variables (-35,-10 define binding, -10-+4 define DNA opening, +1-+20 define promoter escape) - I think this is the absolute minimum we should use to define a promoter. More realistically, we should probably include back to -100 and forward to +20 as the vast majority of both repressors and activators act in this region (see a sampling of ~200 coli promoters below). ...
ERα and ERβ exert differential effects on the transcriptional activity of the human PAI-1 promoter in transient transfection studies using cultured endothelial cells. Our experiments demonstrate that ERα increases the promoter activity of PAI-1 promoter fragments in response to estrogen. ERα interacts with at least 1 ERE located at position −422 in the proximal PAI-1 promoter to elicit this estrogen-dependent activation of the PAI-1 promoter. In contrast, ERβ fails to induce, and in fact may suppress, the activity of PAI-1 promoter constructs tested in BAECs through an estrogen-independent mechanism. Furthermore, ERβ exerts a dominant-negative effect on ERα to blunt the estrogen-dependent activation of the PAI-1 promoter in BAECs. Based on these findings, we speculate that the balance of ERα and ERβ in vascular tissue modulates vascular PAI-1 production via estrogen-dependent and estrogen-independent mechanisms.. The observations reported here are consistent with recent studies that ...
We have isolated the 5 region of the ecto-5-nucleotidase (low K(m) 5-NT) gene and established that a 969-base pair (bp) fragment confers cell-specific expression of a CAT reporter gene that correlates with the expression of endogenous ecto-5-NT mRNA and enzymatic activity. A 768-bp upstream negative regulatory region has been identified that conferred lymphocyte-specific negative regulation in a heterologous system with a 244-bp deoxycytidine kinase core promoter. DNase I footprinting identified several protected areas including Sp1, Sp1/AP-2, and cAMP response element (CRE) binding sites within the 201-bp core promoter region and Sp1, NRE-2a, TCF-1/LEF-1, and Sp1/NF-AT binding sites in the upstream regulatory region. Whereas the CRE site was essential in mediating the negative activity of the upstream regulatory region in Jurkat but not in HeLa cells, mutation of the Sp1/AP-2 site decreased promoter activity in both cell lines. Electrophoretic mobility shift assay analysis of proteins ...
The His-1 gene is developmentally expressed in the murine choroid plexus but is silenced in the adult brain. To test the hypothesis that the gene contains cis-acting elements that contribute to this repression, we have analyzed segments of the proximal promoter for negative regulatory sequences by transient transfection analysis. The activity of the proximal promoter was moderately influenced by positively and negatively acting sequences located from 2335 to 2168 and 2617 to 2335, respectively. A strong His-1-positive regulatory element (HPRE, 118 to 129) was essential for maximal promoter activity and could also enhance the activity of the heterologous SV40 promoter in an orientation-dependent manner. The HPRE contains homology to the neuronal restrictive silencer element (NRSE) but interacted with nuclear proteins that were distinct from the NRSE-binding factor (NRSF). By contrast, a potent negative regulatory sequence (HNRE) was identified in the first exon that repressed either the His-1 or ...
Oncogenic activation of ras results in changes in the transcription of several genes leading to uncontrolled cell growth. In this paper, we demonstrate that transformation of fibroblast cells by the ras oncogene leads to transcriptional repression of the smooth muscle α-actin promoter. Transient transfection analysis of plasmids containing the 5′ upstream region of the human α-actin gene fused to human growth hormone or bacterial chloramphenicol acetyltransferase coding sequences into Rat-2 and ras-transformed Rat-2 (HO6) cells indicates that α-actin promoter is repressed in ras-transformed cells. In addition, stable rat fibroblast cell lines expressing human growth hormone or β-galactosidase under the control of α-actin promoter exhibit repressed reporter gene activity following transformation by the ras oncogene. α-Actin promoter-driven β-galactosidase activity is derepressed in revertants of ras-transformed stable cell lines. This revertant cell line expresses elevated levels of ras ...
Promoter Methylation Status of E-Cadherin, hMLH1, and p16 Genes in Nonneoplastic Gastric Epithelia: Silencing of tumor suppressor and tumor-related genes by hyp
One of the most intriguing aspects of Airn‐dependent gene silencing is the ability of Airn transcription to silence neighbouring genes in cis, although its own promoter is unaffected. In these studies, a mouse PGK promoter is able to silence Igf2r in differentiated ES cells, without being itself affected. Currently, two models have been suggested to explain the silencing activity of the Airn ncRNA. The RNA‐directed targeting model is based on parallels to X chromosome inactivation and proposes a function for the Airn ncRNA itself. This model proposes that the Airn ncRNA coats the silenced region and recruits effector proteins that induce widespread repressive epigenetic modifications (Pauler et al, 2007). Intuitively, this model implies a special ability of the Airn promoter to resist silencing as the induced epigenetic changes on the paternal allele silence Igf2r, Slc22a2 and Slc22a3, but not the Airn promoter. Our findings argue against this model, as the PGK promoter in the APD‐PGK ...
RNA polymerase II core promoter proximal region sequence-specific DNA binding, transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
Purpose. Damage to the corneal epithelium results in the massive secretion of fibronectin (FN) shortly after injury and induces the expression of its integrin receptor α5β1. The authors reported previously that FN induces α5 expression in human corneal epithelial cells and rabbit corneal epithelial cells by altering the binding of the transcription factor (TF) Sp1 to a regulatory element from the α5 promoter that it is also flanked by binding sites for the TFs NFI and AP-1. Here, they assessed the function of NFI and AP-1 on α5 gene expression and evaluated the contribution of FN to their overall regulatory influence. Methods. TF binding to the α5 promoter was evaluated in vitro by electrophoretic mobility shift assays and in vivo by ligation-mediated PCR or chromatin immunoprecipitation. TFs expression was monitored by Western blot, whereas their influence was assessed by transfection and RNAi analyses. Results. Coexpression of Sp1, NFI, and AP-1 was demonstrated in all cell types, and ...
TY - JOUR. T1 - Enhanced expression and HIV- 1 inhition of chimeric tRNALys3-Ribozymes under dual U6 snRNA and tRNA promoters. AU - Chang, Zongli. AU - Westaway, Shawn. AU - Li, Shirley. AU - Zaia, John A.. AU - Rossi, John J.. AU - Scherer, Lisa J.. PY - 2002/10/1. Y1 - 2002/10/1. N2 - We previously demonstrated that chimeric tRNALys3-ribozymes targeting the primer binding site of HIV produced virions with reduced infectivity. To further enhance the anti-HIV efficiency of these ribozymes by increasing their level of transcription, we designed several tRNALys3 promoter variants and compared their expression levels from the internal tRNALys3 promoters and also from an exogenous human U6 snRNA promoter. The dual U6/tRNA promoter constructs gave rise to much higher levels of expression than constructs that used only an internal tRNA promoter. The most abundant expression is produced when a U6 promoter drives a chimeric tRNALys3-ribozyme containing a mutation in the tRNA B box. As detected by ...
Bidirectional promoters are short (,1 kbp) intergenic regions of DNA between the 5 ends of the genes in a bidirectional gene pair.[14] A bidirectional gene pair refers to two adjacent genes coded on opposite strands, with their 5 ends oriented toward one another.[15] The two genes are often functionally related, and modification of their shared promoter region allows them to be co-regulated and thus co-expressed.[16] Bidirectional promoters are a common feature of mammalian genomes.[17] About 11% of human genes are bidirectionally paired.[14]. Bidirectionally paired genes in the Gene Ontology database shared at least one database-assigned functional category with their partners 47% of the time.[18] Microarray analysis has shown bidirectionally paired genes to be co-expressed to a higher degree than random genes or neighboring unidirectional genes.[14] Although co-expression does not necessarily indicate co-regulation, methylation of bidirectional promoter regions has been shown to ...
Cavalcanti, Alexandre B.; Berwanger, Otavio; Suzumura, Erica A.; Amato, Marcelo B. P.; Tallo, Fernando S.; Rezende, Ederlon A. C.; Telles, Jose M. M.; Romano, Edson; Guimaraes, Helio P.; Regenga, Marisa M.; Takahashi, Luzia N.; Teixeira, Cassiano; Oliveira, Roselaine P.; Carvalho, Vitor O.; Diaz-Quijano, Fredi A.; Carvalho, Carlos R. R.; Kodama, Alessandra A.; Ribeiro, Gisele F. M.; Abreu, Matheus O.; Oliveira, Ivonaldo M.; Guyatt, Gordon; Ferguson, Niall; Walter, Stephen; Vasconcelos, Marcia O. M.; Segundo, Valerio J.; Ferraz, Iris L.; Silva, Rosicley S.; Oliveira Filho, Wilson de; Silva, Nelson B.; Heirel, Debora C. B.; Takatani, Rodrigo R.; Sousa Neto, Jefferson A.; Neto, Jeronimo C. B.; Almeida, Samara D.; Chamy, Gauco; Goncalves Neto, Graciliano J. L.; Dias, Alysson P.; Silva, Rozangela R.; Tavares, Roberta C.; Souza, Marcia L. V. D.; Decio, Janaina C.; Lima, Cyntia M. L. S.; Ferreira Neto, Fleury; Oliveira, Katia R.; Dias, Polyana P. L. C.; Brandao, Andre L. S. B.; Ramos, Joroastro E.; ...
Title: Regulation of MAO-A and MAO-B Gene Expression. VOLUME: 11 ISSUE: 15. Author(s):J. C. Shih and K. Chen. Affiliation:Department of Cell andNeurobiology, Keck School of Medicine, University of SouthernCalifornia, 1985 Zonal Ave. Los Angeles, California, 90033, USA. Keywords:mao a, mao b, gene regulation, promoter, sp1, protein kinase c, mapkinase, egr-1. Abstract: MAO A and B genes are made of 15 exons with identical exon-intron organization. They are located on X-chromosome organized in opposite direction, tail to tail with 24kb apart. Both promoters are GC-rich and regulated by transcription factor Sp1. However, they have distinctly different features. MAO B gene, but not MAO A gene, has TATA box. MAO B promoter contains two clusters of overlapping Sp1 sites, the CACCC repressor element. Transcription factors Sp1 and Sp4 can activate MAO B promoter activity through the proximal cluster of Sp1 sites and its activation can be repressed by the over-expression of Sp3 and a related family ...
Hepatocytes (Heps) and sinusoidal endothelial cells (SECs) perform different roles in normal and pathological liver functions through the differential expression of fibronectin (FN) polypeptides. Nonetheless, the molecular basis underlying cell-type specific FN expression remains unknown. Using liver cell isolation techniques followed by short-term primary culture and transient transfection, here, we compare the transcriptional regulation of the FN promoter in Heps and SEC in conditions that closely resemble in vivo physiology. Transfection experiments allowed us to reveal cell-type specific regulatory elements operating through the proximal regions of the FN promoter. To investigate this further, we examined the occupation patterns of key elements of the FN promoter such as the -170 CRE and -150 CCAAT sites. Transcriptional activity of mutagenised promoter constructs confirmed that in Heps, these two sites behave as a composite element critical for normal promoter activity. In addition, ...
The PhoP binding pattern within the resA promoter is similar to other PhoP-regulated promoters(Liu, 1997; Liu and Hulett, 1997; 1998; Liu et al., 1998a, b), in that (i) both PhoP and PhoP∼P bind to these promoters; (ii) PhoP∼P extends the binding site further upstream and/or downstream, and has a higher binding affinity; and (iii) the core PhoP-binding region (region bound by PhoP and PhoP∼P) is located from about −22 to −60 in all these promoters(Liu and Hulett, 1998), including resA. A feature unique to the resA promoter among PhoP-regulated promoters is that it contains only two of the consensus PhoP binding repeats in the core binding region (Fig. 6), instead of at least four as seen in other Pho promoters studied. Ongoing expression and footprinting analyses of a site-specific mutagenized PhoP regulated promoter (S. Eder and F. M. Hulett, unpublished) indicate that PhoP binds to 6 bp repeated TT(A/T/C)ACA sequences separated by 4-5 bp, and that PhoP binding to one set of consensus ...
Read Cloning of a wheat puroindoline gene promoter by IPCR and analysis of promoter regions required for tissue-specific expression in transgenic riceseeds, Plant Molecular Biology on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Generation of the Mouse FasL Promoter Reporter Constructs and Motifs-Directed Mutagenesis. Mouse FasL promoter cloned in pGL3 vector was a gift from Dr. Timothy L. Ratiff (University of Iowa, Iowa City, IA). The cloning of FasL promoter and generation of luciferase reporter construct in pGL3 vector have been described previously (Crist et al., 2003).. To determine the role of NF-κB in regulation of FasL promoter in the presence of TCDD, we generated three FasL promoter constructs with or without NF-κB motifs. We designated these constructs FasL231, FasL191, and FasL324 based on the size of the respective PCR-amplified fragments. The primers used to generate various fragments of mouse FasL promoter are shown in Table 1. For directional cloning, all upstream primers included SacI restriction site and downstream primers included XhoI restriction site.. The amplified PCR fragments FasL231, FasL191, and FasL324 were first cloned into the polylinker sites of Topo PCR2.1 T/A vector and then sequenced ...
We present a system by which diverse transcriptional reporter elements, downstream of different signal transduction pathways, elicit cellular fluorescence in an agonist-dependent and agonist-selective fashion in live cells and embryos. By employing the constitutively active Rosa26 gene and analyzing its upstream promoter sequences, we made successive deletions with the intention of preserving the inherent openness of the locus and its constitutive activity, while diminishing core promoter function sufficiently to provide a low background of transcription in the absence of signal pathway activity. The −228 deletion endpoint satisfied these criteria, whereas the −60 deletion retained high constitutive activity. Fortunately, we discovered that insertion of all signaling elements studied here at −60 resulted in a marked diminution of basal activity. Not unexpectedly, the different −228 and −60 constructs provided slightly different results in terms of basal and induced activity with ...
Wikimedia Commons has media related to Genetic promoter regions. ORegAnno - Open Regulatory Annotation Database Identifying a ... Non-coding RNAs are linked to mRNA promoter regions, according to research. Subgenomic promoters range from 24 to 100 ... When referring to a promoter some authors actually mean promoter + operator; i.e., the lac promoter is IPTG inducible, meaning ... of promoters), a TATA box (present in about 24% of promoters), initiator (Inr) (present in about 49% of promoters), upstream ...
UGT1A1 is associated with a TATA box promoter region; this region most commonly contains the genetic sequence A(TA)6TAA; this ... the most common of which results from adding another dinucleotide repeat TA to the promoter region, resulting in A(TA)7TAA, ... most commonly due to a polymorphism in the promoter region of the UGT1A1 gene". Journal of Hepatology. 33 (3): 348-351. doi: ... "Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome". Lancet. 347 (9001): 578-81. ...
These include a promoter and terminator region, which initiate and end transcription. A selectable marker gene is added, which ... Genetic engineering, also called genetic modification or genetic manipulation, is the modification and manipulation of an ... Genetic engineering is a process that alters the genetic structure of an organism by either removing or introducing DNA, or ... If genetic engineering is used to remove genetic material from the target organism the resulting organism is termed a knockout ...
The complex binds to the promoter region to activate transcription, enhancing the creation of sucrose phosphorylase. Genetic ... Reid SJ, Abratt VR (May 2005). "Sucrose utilisation in bacteria: genetic organisation and regulation". Applied Microbiology and ...
Genetic sequences involved in gene regulation are typically found in the promoter regions of the eukaryotic genome. ... promoter regions and miscellaneous regions. The bioinformatic displayed a total of 148 H-DNA or triplet DNA possible structures ... Consequently, the promoter region has displayed the ability to form H-DNA with a higher frequency. A bioinformatic analysis of ... The promoter region accounted for the higher frequency with 71 triplate structures, while the exons accounted for 57 triplate ...
The promoter region initiates transcription of the gene and can be used to control the location and level of gene expression, ... As well as the gene to be inserted most constructs contain a promoter and terminator region as well as a selectable marker gene ... Added genes are often accompanied by promoter and terminator regions as well as a selectable marker gene. The added gene may ... Traditional methods of genetic engineering generally insert the new genetic material randomly within the host genome. This can ...
The 3′ coding region of mir-433 is also the promoter of the neighbouring miRNA gene: mir-127. The two genes overlap and are ... This is a method by which genetic information can be stored in a compact and efficient way. Mir-433, along with the other ... No such association was found between mir-433 variation and Parkinson's disease despite the fact that variation in the region ... A single nucleotide polymorphism (SNP) in the 3′ untranslated region (UTR) of HDAC6 was found to segregate with the ...
A genetic variation in the Kv1.3 promoter region is associated with low insulin sensitivity and impaired glucose tolerance. ... "Topology of the pore-region of a K + channel revealed by the NMR-derived structures of scorpion toxins". Neuron. 15 (5): 1169- ... "A family of three mouse potassium channel genes with intronless coding regions". Science. 247 (4945): 973-5. Bibcode:1990Sci... ...
The gene is then combined with other genetic elements, including a promoter and terminator region and a selectable marker. A ... Genetic engineers must isolate the gene they wish to insert into the host organism and combine it with other genetic elements, ... It was the first plant to be altered using genetic engineering and is considered a model organism for not only genetic ... With the advent of genetic engineering, new genetic changes can easily be introduced into these bacteria. Most food-producing ...
Type I promoters consists of a consensus -35 and -10 region (Pribnow box) upstream of the gene start site. Heidorn et al. 2011 ... The iGem Registry hosts these promoter sequences as part of the BioBrick initiative to create interchangeable genetic parts. ... Several popular inducible promoters in E. coli are the pBad, pTet, and pLac promoters, all of which repress gene expression by ... Several such promoters were evaluated in Synechocystis sp. PCC6803 by Peca 2007. These promoters are not ideal, as metal ions ...
In addition, the Isoelectric Point of FAM149A is 9.891999 The following is an analysis of the promoter region for FAM149A. It ... shows a number of transcription factor binding sites that may have strong contribution to regulating the genetic expression. ... Here is the promoter for the FAM149A gene provided by ElDorado and the sequence extracted from the information. The following ... Only the dog contains what is considered as an Evolutionary Conserved Region (ECR). Based on the graphs on the right, the ...
The gene is then combined with other genetic elements, including a promoter and terminator region and usually a selectable ... The genetic modification is an RNA molecule that prevents the virus reproduction by mimicking the region of the flu virus ... Genetic modification of the myxoma virus has been proposed to conserve European wild rabbits in the Iberian peninsula and to ... However, the genetic material will be stored at the Canadian Agricultural Genetics Repository Program. In 2006, a pig was ...
Stress can also result in inheritable changes DNA methylation in the promoter regions of the estrogen receptor alpha (ERα), ... Small non-coding RNAs may serve as a potential mechanism for stress-related genetic changes in offspring. Mouse models of ... These heritable epigenetic modifications include DNA methylation of the promoter regions of genes that affect sensitivity to ... Evidence of decreased complexity in the CA1 and CA3 region of the hippocampus in terms of dendritic length and spine density ...
... have been shown to be essential for the imprinting of genes in their corresponding regions. Differentially methylated regions ... The first imprinted genetic disorders to be described in humans were the reciprocally inherited Prader-Willi syndrome and ... Indeed, methylation loss at H19 imprinted gene has been observed associated with MTHFR gene promoter hypermethylation in semen ... Those regions which when inherited from a single parent result in a discernible phenotype contain imprinted gene(s). Further ...
A genetic variant in the promoter region, A-161T, has been examined with respect to personality traits and showed no major ... Nöthen MM, Erdmann J, Shimron-Abarbanell D, Propping P (Dec 1994). "Identification of genetic variation in the human serotonin ... "Genetic diversity of the human serotonin receptor 1B (HTR1B) gene". Genomics. 72 (1): 1-14. doi:10.1006/geno.2000.6411. PMID ...
The promoter region for CCDC188 contains highly conserved p53 and CREB-ATF4 binding sites. Chromatin-immunoprecipitation ... Genetic neighbors of CCDC188 include ZDHHC8, SNORA77B, and RANBP1. CCDC188 is expressed at low levels across all adult tissues ... analysis confirms p53 binding to the promoter region of CCDC188. Significantly repressed CCDC188 mRNA expression is found in ... A nonsense mutation in the coding region of CCDC188 has been implicated in retinitis pigmentosa, a retinal degeneration process ...
He was the author of the discovery of the genetic polymorphism of the promoter region of the gene of the leukotriene C4 ... He was the promoter of fourteen doctoral dissertations. He is a member of the Polish Society of Paediatrics (since 1986), the ... synthase; and he participated in establishing the relationship between genetic overexpression caused by the presence of the ...
The SV40 promoter was conventionally used until research showed that vectors driven by the Rous Sarcoma Virus (RSV) promoter ... DNA vaccines are members of the genetic vaccines, because they contain a genetic information (DNA or RNA) that codes for the ... Accessory regions pertaining to the plasmid backbone may engage in a wide range of structural instability phenomena. Well-known ... These "genetic adjuvants" can be administered as a: mixture of 2 plasmids, one encoding the immunogen and the other encoding ...
... and may serve as a genetic risk factor for PD. Specifically, the SLC18A2 promoter region for the VMAT2 gene has been identified ... Studies using a genetic rodent model to understand clinical depression in humans suggest that VMAT2 genetic or functional ... Genetic research models have shown that polymorphisms in SLC18A1 and SLC18A2, the genes that encode for VMAT1 and 2 proteins, ... Based on these findings, it has been proposed that VMAT2 activity is not altered at the level of genetic expression, but may be ...
To date all regulatory regions (promoters) and genes that have been examined in detail at the molecular level, have TRAM ... According to Dover, TRAM is a genetic system that has features of non-mendelian inheritance Turnover, copy number and ... Molecular drive is a term coined by Gabriel Dover in 1982 to describe evolutionary processes that change the genetic ... Molecular drive operates independently of natural selection and genetic drift. The best-known such process is the concerted ...
WC-1 and WC-2 bind to the promoter elements of the genes that they transcriptionally activate. WC-1 has been shown to be a blue ... Genetic screens of light-insensitive Neurospora mutant strains have repeatedly demonstrated abnormalities in the wc-1 gene. In ... They noticed that in the region of the growing front, mycelia laid down between the late night to early morning formed aerial ... The rhy-2 mutation was localized to the polyglutamine region of the WC-1 gene product. The rhy-2 mutant is arrhythmic with ...
There is also alternative promoter region with about 900 bp between exon 3 and 4 suggesting that the fourth isoform might be ... The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways of genetic ... Down syndrome critical region gene 1, also known as DSCR1, is a protein that in humans is encoded by the DSCR1 gene. RCAN1 is a ... "Entrez Gene: DSCR1 Down syndrome critical region gene 1". Arron JR, Winslow MM, Polleri A, Chang CP, Wu H, Gao X, et al. (June ...
Insertion between promoter and upstream enhancers => loss of enhancer function/hijack of enhancer function for reporter gene.† ... hoping for insertion in coding region) Microinject the embryo with coding for transposase and a plasmid with the reporter gene ... that can be used as a process for genetic research. To use this process as a useful and controllable genetic tool, the two ... Currently transposons can be used in genetic research and recombinant genetic engineering for insertional mutagenesis. ...
TFG-TEC binds to the proximal promoter region of the ENO3 gene. Click on genes, proteins and metabolites below to link to ... Advances in genetic testing, such as exome sequencing and specific gene panels, can provide greater access to diagnoses for ... The ENO3 gene spans 6 kb and contains 12 exons, though the first exon is an untranslated region and, thus, non-coding. This ... Upstream of the first exon lies a TATA-like box and CpG-rich region, which contains recognition motifs for binding ...
Level 0 modules are the base for MoClo system, where they contain genetic elements like a promoter, a 5' untranslated region ( ... First-tier Golden Gate assembly constructs the single-gene construct by adding in genetic elements such as promoter, open ... In this process, one needs to make sure that the introduced mutation will not affect the genetic function encoded by the ... An Iterative Cloning System for Standardized Assembly of Reusable Genetic Modules". PLOS ONE. 6 (7): e21622. Bibcode:2011PLoSO ...
... end of the EpCAM gene causes epigenetic inactivation of the MSH2 gene by hypermethylating the promoter region of the MSH2 gene ... A problem in EpCAM can indirectly cause Lynch syndrome, a genetic disorder that leads to increased risk of cancer. Deletion of ... Tomita N, Yamano T, Matsubara N, Tamura K (February 2013). "[A novel genetic disorder of Lynch syndrome - EPCAM gene deletion ...
Several genetic links to shyness are current areas of research. One is the serotonin transporter promoter region polymorphism ( ... Scientists believe that they have located genetic data supporting the hypothesis that shyness is, at least, partially genetic. ... "Relation of shyness in grade school children to the genotype for the long form of the serotonin transporter promoter region ... The long version of the 5-HTT gene-linked polymorphic region (5-HTTLPR) is now postulated to be correlated with shyness, but in ...
Stress-dependent phosphorylation of MeCP2 causes MeCP2 to dissociate from the promoter region of a gene called arginine ... It is believed that PTSD develops as a result of an interaction between these traumatic experiences and genetic factors. The ... DNMT1 aids in regulation of gene expression by methylating promoter regions of genes, causing transcriptional repression of ... However, early life stress increases methylation of the 1F promoter in this gene (or the 17 promoter analog in rodents). ...
Therefore, genetic markers that are close to the region of interest in chromosome 6q24 can be selected. Chromosome duplication ... It was discovered that a differentially methylated region (DMR) is present within the shared promoter of these genes. Generally ... The prognosis can be confirmed with genetic analysis to find the genetic cause of the disease. With proper management, the ... Neonatal diabetes is a genetic disease, caused by genetic variations that were either spontaneously acquired or inherited from ...
The promoter region of C9orf43 predicted by Genomatix ElDorado is 1199 base pairs long and contains a CpG island and part of ... C9orf43 has no known disease associations, however the polyglutamine repeat region is similar to genetic precursors in ... The 3' untranslated region of C9orf43 contains 3 predicted stem -loop structures with 4 miRNA predicted to bind. C9orf43 has ... An increase in the length of the polyglutamine repeat region is seen in diseases such as Huntington's disease and ...
"Region VIII; Leyte-Northern Samar". Living in the Philippines. Archived from the original on 4 May 2003. Retrieved 28 July 2016 ... There was also established in Maasin a Court of First Instance, then known as the Promoter Fiscal, where all minor ... Felix, Rocel C. (7 April 2006). "Genetic Engineering Eyed to Solve Problems of Abaca Industry". NewsFlash.org. STAR. Archived ... In recent years[when?] there has been a drive to promote tourism in the region.[citation needed] There is a new Zoo and ...
Targeting of p21 promoter is responsible for inducing cell differentiation, which is promoted by modifying the DNA nuclear ... As a result, these cells died taking into account this genetic modification but they did not show DNA breakup. This was the key ... Therefore, a cavity (active site) where DNA can fit is produced, even though there is another binding region responsible for ... Besides, Caspase 3 induces DNA breaks in the promoter of the factor p21 and this strand breakup is related to p21 gene ...
However, virus-encoded genetic elements have the ability to antagonize the IFN response contributing to viral pathogenesis and ... elements in gene promoters. Type I IFNs can induce expression of genes with either ISRE or GAS elements, but gene induction by ... identification of a repeated basic amino acid motif within the C-terminal binding region". Journal of Virology. 66 (9): 5347-56 ... in the promoters of certain genes, known as IFN stimulated genes ISGs. Binding of ISGF3 and other transcriptional complexes ...
Analysis of promoter methylation in oral rinses of patients with squamous cell carcinoma of the head and neck showed that miR- ... miR-137 is embedded within a CpG island, a genomic region containing high frequency of CpG dinucleotides, and is reported to be ... Cross-Disorder Group of the Psychiatric Genomics Consortium; Genetic Risk Outcome of Psychosis (GROUP) Consortium (2013). " ... The mature miRNA functions by binding to the 3' untranslated region (3' UTR) of multiple target mRNAs. This binding in turn ...
The promoters for the initiation of the transcription of the heavy and light strands are located in the main non-coding region ... Once, there was thought to be a positive feedback loop at work (a 'Vicious Cycle'); as mitochondrial DNA accumulates genetic ... These 440 base pairs are compared to the same regions of other individuals (either specific people or subjects in a database) ... The complete sequence of the human mitochondrial DNA in graphic form Between most (but not all) protein-coding regions, tRNAs ...
However contrary to the animal model claims, human genetic data might suggest that the effect may be indirect Uteroglobin ... 1994). "Clara cell 10 kDa protein mRNA in normal and atypical regions of human respiratory epithelium". Int. J. Cancer. 58 (5 ... 2002). "Regulation of human Clara cell 10 kD protein expression by chicken ovalbumin upstream promoter transcription factors ( ...
Genome-wide studies using high throughput technologies have identified the transcription factors that bind to the promoters of ... Many of the relevant genes were first identified by studying yeast, especially Saccharomyces cerevisiae; genetic nomenclature ... it has been identified that cyclin D-Cdk4/6 binds to a C-terminal alpha-helix region of Rb that is only distinguishable to ... including the detection and repair of genetic damage as well as the prevention of uncontrolled cell division. The molecular ...
In other words, short-interspersed nuclear elements have their key promoter elements within the transcribed region itself. ... The activity of SINEs however has genetic vestiges which do not seem to play a significant role, positive or negative, and ... Insertion of a SINE upstream of a coding region may result in exon shuffling or changes to the regulatory region of the gene. ... The regions coding miRNA can be independent RNA-genes often being anti-sense to neighboring protein-coding genes, or can be ...
... is not linked to particular genetic disorder in humans. Mice that have a genetic mutation in the WNT3A die during early ... and cartilage of the torso region. Wnt3a instructs these multipotent stems cells to form muscle, bone, and cartilage ... "Wnt-3A/beta-catenin signaling induces transcription from the LEF-1 promoter". The Journal of Biological Chemistry. 277 (36): ...
For example, it is likely that the methylation of lysine 9 on histone H3 (H3K9me3) in the promoter region of genes prevents ... It is now generally accepted that in addition to genetic aberrations, cancer can be initiated by epigenetic changes in which ... The pre-SET region contains cysteine residues that form triangular zinc clusters, tightly binding the zinc atoms and ... The SET domain itself contains a catalytic core rich in β-strands that, in turn, make up several regions of β-sheets. Often, ...
The C allele is much more prevalent in the latter; this SNP is located in the promoter region of the MSMB gene, thus affects ... At a genetic level, prostate cancer visibility on MRI seems to be linked with genetic features of aggressive disease including ... Following an MRI, regions of interest within the scan which may be cancer are often graded on a likelihood scale between 1 and ... It is located in the hypogastric region of the abdomen. To give an idea of where it is located, the bladder is superior to the ...
Lu S, Wang G, Bacolla A, Zhao J, Spitser S, Vasquez KM (March 2015). "Short Inverted Repeats Are Hotspots for Genetic ... Cruciform structures block the recognition of the tet promoter in pX by RNA polymerase. The cruciform structures can also ... in linear DNA is thermodynamically unfavorable due to the possibility of base unstacking at junction points and open regions at ... Werner's syndrome is a genetic disorder that causes premature aging. Patients with Werner's syndrome lack a functional WRN ...
... activity in cells that are transfected with a genetic construct containing the luciferase gene under the control of a promoter ... It has been suggested that this region may mediate an interaction between LBP and luciferase or their association with the ... Luciferases can be produced in the lab through genetic engineering for a number of purposes. Luciferase genes can be ... application to the interleukin-2 gene promoter". Analytical Biochemistry. 176 (1): 28-32. doi:10.1016/0003-2697(89)90267-4. ...
miR-708 targets the 3'UTR of EYA3, rather than binding directly to its promoter region. High levels of EYA3 in Ewing's sarcoma ... "Differential expression of microRNAs in tumors from chronically inflamed or genetic (APC(Min/+)) models of colon cancer". PLOS ...
... genetic carrier - genetic code - genetic drift - genetic engineering - genetic fingerprint - genetic recombination - genetics ... immunoglobulin joining region - immunoglobulin variable region - immunologic receptor - immunology - In vivo - infrared ... promoter - prostaglandin e receptor - prostaglandin receptor - protein - protein biosynthesis - Protein Data Bank - protein ...
The gain of methylation at CpG islands in promoter regions is correlated with age, and has been used to create an epigenetic ... Werner syndrome (WS), a premature aging condition in humans, is caused by a genetic defect in a RecQ helicase that is employed ... In humans, about 70% of promoters located near the transcription start site of a gene (proximal promoters) contain a CpG island ... In the brain, promoters of genes with reduced expression have markedly increased DNA damage. In cultured human neurons, these ...
April 1999). "Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2 ... Rhodes C, Savagner P, Line S, Sasaki M, Chirigos M, Doege K, Yamada Y (April 1991). "Characterization of the promoter for the ... to 2.5-cM region of chromosome 5q14.3". Genomics. 57 (2): 219-26. doi:10.1006/geno.1999.5766. PMID 10198161. Hirakawa S, ... Rhodes CS, Matsunobu T, Yamada Y (October 2019). "Analysis of a limb-specific regulatory element in the promoter of the link ...
Five TMEM125 promoters were identified by Genomatix Gene2Promoter. The primary promoter (NM_001320244) is 1881 bp in length. It ... TMEM125 has two variant transcripts that differ only in the 5' untranslated region (UTR), but both encode the same protein. ... "Identification of Tmem10/Opalin as an oligodendrocyte enriched gene using expression profiling combined with genetic cell ...
... encoded by 93 exons and its transcription is under the control of a CpG rich promoter. This region on chromosome 15 is ... "Genetic determinants of hair, eye and skin pigmentation in Europeans". Nature Genetics. 39 (12): 1443-52. doi:10.1038/ng. ... HER2 is an allosteric activator of E6AP, and lies at the most commonly deleted region in AS. Its deletion could result in the ... The 15q11-q13 locus of HERC2 is also associated with Angelman syndrome (AS), specifically when a region of this locus is ...
"Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 ... Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM (Dec 2008). "Multiple genetic variants ... This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are ... "Prediction of genetic risk for dyslipidemia". Genomics. 90 (5): 551-8. doi:10.1016/j.ygeno.2007.08.001. PMID 17919884. Kursula ...
The PTET promoter plays an integral role in the expression of both plasmids. It drives transcriptional expression of both the ... Carter, D.M.; Radding, C.M. (1971). "The Role of Exonuclease and β Protein of Phage λ in Genetic Recombination: II. Substrate ... The method is also able to successfully delete large regions of chromosomal DNA using oligonucleotides designed with upstream ... It was observed that leaky expression of Cas9 occurred even without induction of the PTET promoter. Therefore, to avoid cell ...
The main region in Italy for chestnut production is the Mugello region; in 1996, the European Community granted the fruit ... This is just enough to preserve the genetic material used to engineer an American chestnut tree with the minimal necessary ... Parmentier, who among other things was a famous potato promoter, extracted sugar from chestnuts and sent a chestnut sugarloaf ... In the Romagna region, roasted chestnuts are often served with a traditional wine, the Cagnina di Romagna. It is traditional to ...
Both a promoter and a ribosome binding site (Shine-Dalgarno sequence) are present upstream of the gene. A transcriptional ... McShan, W. M.; Ferretti, J. J. (1997). "Genetic diversity in temperate bacteriophages of Streptococcus pyogenes: identification ... such as the skin folds in the inguinal and axillary regions of the body. Also in those areas, Pastia's Lines may appear: ...
Naville D, Jaillard C, Barjhoux L, Durand P, Bégeot M (January 1997). "Genomic structure and promoter characterization of the ... Sebag JA, Hinkle PM (January 2009). "Regions of melanocortin 2 (MC2) receptor accessory protein necessary for dual topology and ... Flück CE, Martens JW, Conte FA, Miller WL (September 2002). "Clinical, genetic, and functional characterization of ... untranslated region of human corticotropin receptor cDNA". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1356 ...
When DNA methylation occurs at promoter regions, the sites of transcription initiation, it has the effect of repressing gene ... Epigenomics is the study of the complete set of epigenetic modifications on the genetic material of a cell, known as the ... This is in contrast to unmethylated promoter regions which are associated with actively expressed genes. The mechanism by which ... Hypersensitive sites most often represent promoters regions, which require for DNA to be accessible for DNA binding ...
In developing regions of the world, there are about 214 million women who want to avoid pregnancy but are unable to use safe ... In addition, if the woman and/or the man has a genetic disease, there is risk of these being passed on to the children. Birth ... 2020-02-19). "Increasing Effectiveness of Family Planning Promoters in Mozambique through an SMS Intervention". AEA RCT ... "Genetic disorders and choices about reproduction". Lunde CE, Spigel R, Gordon CM, Sieberg CB (2021-10-06). "Beyond the Binary: ...
2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. Bibcode: ... Additionally, HADHB has been shown to bind to the distal 3' untranslated region of renin mRNA, thereby regulating renin protein ... large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55-65. ... 2003). "HADHB, HuR, and CP1 bind to the distal 3'-untranslated region of human renin mRNA and differentially modulate renin ...
Genetic clues to longevity In a new study, Drs. Gil Atzmon and Nir Barzilai at the Albert Einstein College of Medicine of ... depends upon previously underappreciated sections of both the DNA promoter region and RNA polymerase ... Tiny strands of genetic material called RNA - a chemical cousin of DNA - are emerging as major players in gene regulation, the ... Five common genetic variations linked to metabolic syndrome and HDL cholesterol levels Nutrition researchers at Washington ...
... genetic at Synonyms.com, the largest free online thesaurus, antonyms, definitions and translations resource on the web. ... Find all the synonyms and alternative words for promoter regions, ... What is another word for promoter regions, genetic?. Synonyms for promoter regions, genetic. pro·mot·er regions, genet·ic. This ... promoters, promotes, promoting, promotion, promotion system. ... or search for promoter regions, genetic inside other ...
The serotonin transporter-linked promoter region polymorphism (5-HTTLPR) is thought to be associated with some serotonin ... Polymorphism, Genetic * Promoter Regions, Genetic * Psychology, Adolescent* * Serotonin Plasma Membrane Transport Proteins ... The serotonin transporter-linked promoter region polymorphism (5-HTTLPR) is thought to be associated with some serotonin ... Family-based association study of serotonin transporter promoter in suicidal adolescents: no association with suicidality but ...
Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): implications of its allelic ... Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): implications of its allelic ... Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF) : implications of its allelic ... title = "Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): implications of its ...
The genetic change associated with these conditions is known as promoter hypermethylation. The promoter is a region of DNA near ... The promoter region of the KLLN gene is shared with another gene, PTEN. The single promoter controls the expression of both ... Hypermethylation occurs when too many small molecules called methyl groups are attached to the promoter region. The extra ... PTEN promoter silencing and Cowden syndrome: the role of epigenetic regulation of KILLIN. JAMA. 2010 Dec 22;304(24):2744-5. doi ...
Promoter Regions, Genetic. Li Q, Dashwood W-M, Zhong X, Al-Fageeh M, Dashwood RH. 2004. Cloning of the rat beta-catenin gene ( ... Cloning of the rat beta-catenin gene (Ctnnb1) promoter and its functional analysis compared with the Catnb and CTNNB1 promoters ... Ctnnb1) promoter and its functional analysis compared with the Catnb and CTNNB1 promoters.. Genomics. 83(2):231-42. ...
... genetic engineering; osmotic stress; plant stress; promoter regions; salinity; signal transduction; stomatal movement; stress ... promoter regions; beta-glucuronidase. Abstract:. ... Abscisic acid (ABA) is a phytohormone widely distributed among members of ... promoter regions; seedlings; squalene monooxygenase; steroid saponins; stress response; stress tolerance; tobacco; yeasts. ... promoter regions; quantitative polymerase chain reaction; reverse transcriptase polymerase chain reaction; stress response; ...
Promoter Regions, Genetic, Recombinant Fusion Proteins, Tissue Inhibitor of Metalloproteinases, Transcription Factor AP-1, ... The region hybridizing with a murine TIMP-1 promoter fragment has been subcloned and analysed further. RNase protection ... The region hybridizing with a murine TIMP-1 promoter fragment has been subcloned and analysed further. RNase protection ... The region hybridizing with a murine TIMP-1 promoter fragment has been subcloned and analysed further. RNase protection ...
Promoter Regions, Genetic, Proteolysis, Risk Factors",. author = "Gillian Hamilton and Harris, {Sarah E} and Gail Davies and ... Our genetic findings are not wholly consistent. Nonetheless, the AD associated intronic haplotype is linked to the 338A variant ... Our genetic findings are not wholly consistent. Nonetheless, the AD associated intronic haplotype is linked to the 338A variant ... Our genetic findings are not wholly consistent. Nonetheless, the AD associated intronic haplotype is linked to the 338A variant ...
Genetic Promoter Regions 36% 9 Citations (SciVal) * A systems biology approach to understanding cis-regulatory module function ... An enhanced epithelial response of a papillomavirus promoter to transcriptional activators. Vance, K. W., Campo, M. S. & Morgan ... A novel silencer element in the bovine papillomavirus type 4 promoter represses the transcriptional response to papillomavirus ...
The studies characterized in this review also highlight the substantial promise of incorporating common genetic variants into ... This review summarizes the genetic factors that influence choline requirements and metabolism in conditions of nutrient ... Overall, consistent and strong associative evidence demonstrates that common genetic variants in choline and folate pathway ... Established and emerging evidence supports the notion that common genetic variants are additional factors that substantially ...
A genetic variation in the promoter region of UGT1A1 is associated with Gilbert syndrome. [8] ... The radiograph shows faint opacities in the region of the gallbladder fossa (red circle) and dilated loops of small bowel in ... Iyanagi T, Emi Y, Ikushiro S. Biochemical and molecular aspects of genetic disorders of bilirubin metabolism. Biochim Biophys ... Gene replacement therapy for genetic hepatocellular jaundice. Clin Rev Allergy Immunol. 2015 Jun. 48(2-3):243-53. [QxMD MEDLINE ...
Because genetic variants in the 5′-regulatory region of EGFR have been shown to alter promoter activity and gene expression in ... Identification of genetic variants within the ERBB4 5′-regulatory region. Seven genetic variants were identified within the ATG ... regulatory region was verified by sequencing. Variants of the 5′-regulatory region representing the genetic variants of ... A Novel Polymorphism in the Promoter Region of ERBB4 Is Associated with Breast and Colorectal Cancer Risk Matjaž Rokavec; ...
IL-4 cytokine (promoter region). • FceRI. High affinity IgE receptor. • Class II MHC (present peptides promoting Th2 response ... Atopy • Atopy is the term for the genetic trait to have a predisposition for localized anaphylaxis. • Atopic individuals have ... Genetic Predisposition Type I hypersensitivity • Candidate polymorphic genes include: • IL-4 Receptor. • ...
For MBL2, we examined 5 SNPS, 3 in the coding region of exon 1 and 2 in the promoter region. The 3 structural SNPs in MBL2 that ... The prevalence of genetic variants among cases was compared with population-based prevalence estimates for the same genetic ... Genetic and environmental influences on premature death in adult adoptees. N Engl J Med. 1988;318:727-32. DOIPubMedGoogle ... Genetic susceptibility to sepsis: a possible role for mannose-binding lectin. Curr Infect Dis Rep. 2004;6:367-73. DOIPubMed ...
Pharynx, Animals, Tylenchida, Promoter Regions, Genetic, Transcriptome, Nucleotide Motifs. Sponsorship. SE-vdA is supported by ... RESULTS: Using an approach pioneered in cyst nematodes, we have analysed the promoter regions of a small panel of previously ... The presence of STATAWAARS in the promoter region of an uncharacterized gene is a predictor that the corresponding gene encodes ... STATAWAARS: a promoter motif associated with spatial expression in the major effector-producing tissues of the plant-parasitic ...
Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5-UTR Region of the Imprinted MKRN3 Gene. Front ... Mean adult height was better than genetic target height in the younger group and was less than target height in the group whose ... Genetic Factors in Precocious Puberty. Clin Exp Pediatr. 2021 Oct 18. [QxMD MEDLINE Link]. ... who are aged 6-8 years at the onset of puberty achieve an adult height within the normal range or appropriate for their genetic ...
Genetic Promoter Regions 33% * Gene Expression 31% 188 Downloads (Pure) View all 21 research outputs ...
1999) Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome ... Mouse homologous regions to the two SRS candidate regions are depicted on the right. Mouse chromosome regions displaying non- ... A novel imprinted region may exist at 7q21. This is suggested by the homology between this region and the proximal imprinted ... While genetic factors are evident in familial cases of SRS, the genetic contribution to the majority of isolated patients is ...
The genetic basis of how cells replicate their DNA is not well understood. Here, the authors identify >1000 genetic elements ... To systematically identify genetic regulators of replication timing, we exploited inter-individual variation in human ... follows a strict spatiotemporal program that intersects with chromatin structure but has a poorly understood genetic basis. ... To identify "me3achyper" regions, we first identified regions that carry one of the 13 five-mark combinations and kept regions ...
The insertion of mPing in the promoter region of OsBRI1 can be detected by PCR, and we found this insertion in several other ... Nipponbare Has Mutations in the Promoter Region of OsBRI1. The expression analysis of BU1 and CYP85A1 supports our hypothesis ... These structural features indicate that mPing transposed into the promoter region of OsBRI1 in Nipponbare. Ohmori et al. [35] ... in the promoter region of OsBRI1 from the Nipponbare genome (Figure 6(d)). The insertion was flanked on both ends by a three- ...
Title: Association between genetic variants in the promoter region of a novel antisense long noncoding RNA RP11-392P7.6 and ... Association between genetic variants in the promoter region of a novel antisense long noncoding RNA RP11-392P7.6 and colorectal ... Genomic regions, transcripts, and products Go to the top of the page Help ... Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, ...
Genetic Promoter Regions 15% * Amino Acid Sequence 14% * Carbohydrates 13% * Membrane Proteins 12% ...
The genetic variation found in six M. tuberculosis strains does not involve significant genomic rearrangements. Most of the ... Using a Perl-based software islandsanalyser, which creates a representation of the genetic variation in the genome, we ... genomes allows the use of comparative genomics as a tool for dissecting the nature and consequence of genetic variability ... Possible Promoter region of Rv1668c (Probable Macrolide ABC transport. ATP binding protein) ...
We also found that hotspot regions contained fewer known retroelement sequences than expected and were overrepresented near ... Recombination plays an important evolutionary role by breaking up haplotypes and shuffling genetic variation. This process ... Genetic recombination is targeted towards gene promoter regions in dogs. PLoS Genet. 2013;9. https://doi.org/10.1371/journal. ... Genetic recombination is an important source of genome-wide genetic variation fundamental for evolutionary forces like ...
  • For years, scientists have struggled to decipher the genetic instruction book that details where and when the 20,000 genes in a human cell will be turned on or off. (news-medical.net)
  • The single promoter controls the expression of both genes. (medlineplus.gov)
  • Limited analysis of 2 genes important to the innate immune response found no association between genetic variants and fatal influenza infection. (cdc.gov)
  • We have evaluated variants in seven Aβ-degrading genes (ACE, ECE1, ECE2, IDE, MME, PLAU, and TF) for association with AD risk in the Genetic and Environmental Risk in Alzheimer's Disease Consortium 1 (GERAD1) cohort, and with three cognitive phenotypes in the Lothian Birth Cohort 1936 (LBC1936), using 128 and 121 SNPs, respectively. (bris.ac.uk)
  • Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (nih.gov)
  • These transcription factors can form homodimers or heterodimers via helix-span-helix motifs and transactivate their target genes by binding to GC-rich consensus sequences in the promoter regions [ 11 ]. (biomedcentral.com)
  • The promoter strength was clustered based on the expression values of downstream genes (or proteins) from systems biology studies including microarray, RNA-Seq and proteomics. (biomedcentral.com)
  • To meet the needs of metabolic engineering and synthetic biology approaches, Z. mobilis genetic elements from coding regions (genes) and non-coding regions [e.g., promoters, ribosomal binding site (RBS), untranslated region (UTR), and terminators] have been broadly investigated [ 5 ]. (biomedcentral.com)
  • The loci of fifty-one candidate genes related to granuloma formation, inflammation, immune response, and/or sarcoidosis were sequenced at high density in enhancer/promoter, exonic, and 5' untranslated regions. (cdc.gov)
  • Insertions within temporally regulated genes, such as those involved in flagellar biosynthesis and chemotaxis functions, can now be used directly to monitor transcriptional regulation from Caulobacter promoter sequences. (researchwithrutgers.com)
  • On the other hand, local hypermethylation of CpG islands in the promoter regions of certain genes contributes to their transcriptional inactivation [ 4 ]. (biomedcentral.com)
  • Hypermethylation of tumor suppressor genes is assumed to be functionally equivalent to genetic loss-of-function mutations. (biomedcentral.com)
  • Bulik continued with a brief description of genetic epidemiology, which looks at how genes and environment influence the risk for specific disorders. (psychiatrictimes.com)
  • We discover 14 book GxE variations in 12 lipid-responsive promoters, including well-known lipid genes (gene that displays a significant discussion with exercise on BMI3. (woofahs.com)
  • These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
  • We show here that E2F-1 binds in vivo the promoters of ASPP1 and ASPP2 genes, two activators of p53-mediated apoptosis, E2F-1, E2F-2 and E2F-3 all activate the isolated ASPP1 and ASPP2 promoters. (ox.ac.uk)
  • Tumor-specific promoters can cause high expression of specific genes. (medicaltrend.org)
  • In addition to these four well-conserved "core PKS genes", the neighboring regions encode additional genes, some of which are highly syntenic and conserved between genomes ( Figure 1 ). (cdc.gov)
  • Several single-nucleotide polymorphisms have been identified in the human TNF gene promoter. (uandes.cl)
  • To understand the role of genetic variations in the regulation of ERBB4 expression, we identified new polymorphisms and investigated their functional implication and risk association with breast and colorectal cancer. (aacrjournals.org)
  • We previously showed that replication timing is variable among individuals, that it can be studied at fine-scale on a population level by sequencing the genomes of proliferating cells, and that genotype information from the same genome sequences can be used to associate replication timing variation with specific genetic polymorphisms. (nature.com)
  • These findings corroborate the hypothesis that genetic polymorphisms related to insulin resistance play a role in NAFLD susceptibility. (scielo.br)
  • CD14 and TNfa promoter polymorphisms in patients with acute arthritis. (cdc.gov)
  • Results Polymorphisms of osteoprotegerin were found in promoter region -950T/C but there was no significance (p=1.000). (bvsalud.org)
  • Conclusion No influence was found between genetic polymorphisms of osteoprotegerin in patients with diabetes and periodontitis. (bvsalud.org)
  • Future studies in firefighters have been proposed to evaluate the interaction between exposure to products of combustion and genetic polymorphisms in relation to decline in lung function. (cdc.gov)
  • Lack of genetic association of the Toll-like receptor 4 (TLR4) Asp299Gly and Thr399Ile polymorphisms with spondylarthropathies in a Hungarian population. (cdc.gov)
  • Role of genetic polymorphisms in myocardial infarction at young age. (cdc.gov)
  • Polymorphism in the promoter region of the CD14 gene and susceptibility to Brucellosis. (cdc.gov)
  • The association with the -159C/T polymorphism in the promoter region of the CD14 gene and juvenile idiopathic arthritis in a Chinese Han population. (cdc.gov)
  • Objective The aim of this paper was to analyze the presence of polymorphism in the promoter region T/C950 of the osteoprotegerin gene and its distribution in diabetic patients with periodontitis, when compared to the control group. (bvsalud.org)
  • A genetic variation in the promoter region of UGT1A1 is associated with Gilbert syndrome. (medscape.com)
  • To systematically identify genetic regulators of replication timing, we exploited inter-individual variation in human pluripotent stem cells from 349 individuals. (nature.com)
  • While such an approach is currently challenging experimentally, an alternative is to take advantage of natural genetic variation. (nature.com)
  • Leveraging human genetic variation enables the equivalent of numerous surgical genetic manipulations and their association with DNA replication timing alterations. (nature.com)
  • Recombination plays an important evolutionary role by breaking up haplotypes and shuffling genetic variation. (biomedcentral.com)
  • Genetic recombination is an important source of genome-wide genetic variation fundamental for evolutionary forces like selection and genetic drift to act. (biomedcentral.com)
  • The importance of recombination hotspots lies in their ability to shuffle genetic variation at higher rates than the rest of the genome, profoundly impacting the dynamics of selection for or against specific mutations [ 1 ]. (biomedcentral.com)
  • In this study, we hypothesized that genetic variation in the CREB1 gene is associated with PM. We genotyped a CREB1 promoter polymorphism rs2253206 and tested it for association with PM in 619 healthy subjects. (frontiersin.org)
  • DNA methylation can provide a source of heritable information that is sometimes entirely uncoupled from genetic variation. (biomedcentral.com)
  • Natural variation for DNA methylation includes examples in which genetic changes such as transposon insertions or rearrangements cause the change in methylation (obligatory epialleles) [ 14 , 15 ]. (biomedcentral.com)
  • Other examples of natural variation for DNA methylation can reflect pure epigenetic variation that occurs in the absence of any causative genetic changes [ 1 , 14 ]. (biomedcentral.com)
  • These studies suggest that some examples of variation for DNA methylation are due to genetic changes while others are not. (biomedcentral.com)
  • Our study thus reports a novel endometrial cancer risk locus and expands the spectrum of cancer types associated with genetic variation at 5p15, further highlighting the importance of this region for cancer susceptibility. (umn.edu)
  • Thus, genetic variation in noncoding regions of the genome can increase the susceptibility to diseases by disrupting various regulatory elements (promoters, enhancers, silencers, insulator regions, etc. (nih.gov)
  • The effect of genetic variation on promoter usage and enhancer activity. (coriell.org)
  • Their favorable population structure facilitates the discovery of functional genetic variation including some interesting non-coding structural variants with regulatory effects [ 10 - 15 ]. (plos.org)
  • The +21/+58 region contains a putative binding site for the transcription factor leader-binding protein 1 (LBP-1). (uea.ac.uk)
  • RESULTS: Using an approach pioneered in cyst nematodes, we have analysed the promoter regions of a small panel of previously validated pharyngeal gland cell effectors from B. xylophilus to identify an associated putative regulatory promoter motif: STATAWAARS. (cam.ac.uk)
  • These results suggest that DCC is a putative conditional tumor-suppressor gene that is epigenetically inactivated by promoter hypermethylation in a majority of HNSCC. (elsevier.com)
  • Adenovirus E2 promoter can be divided into early and late promoters, used to regulate the E2 transcription unit, the late E2 promoter region contains Y-box, the binding site of transcription factor YB-1 (Y-box binding protein-1). (medicaltrend.org)
  • in each case, d61-1N (in the Nipponbare genetic background) had the more severe mutant phenotype. (scirp.org)
  • Of the 50 mutants with an epidermal phenotype, 9 map to human genetic conditions with skin abnormalities. (nature.com)
  • According to the ENCODE project, the fraction of regions in the human genome potentially involved in transcriptional control is many times greater than the fraction of coding regions. (nih.gov)
  • The genetic change associated with these conditions is known as promoter hypermethylation. (medlineplus.gov)
  • Hypermethylation occurs when too many small molecules called methyl groups are attached to the promoter region. (medlineplus.gov)
  • DCC promoter region hypermethylation was found in 75% of primary HNSCC. (elsevier.com)
  • DCC nonexpressing HNSCC cell lines JHU-O12 and JHU-O19 with baseline hypermethylation of the DCC promoter were treated with 5-aza-2′- deoxycytidine (a demethylating agent) and reexpression of DCC was noted. (elsevier.com)
  • Identification of novel DNA hypermethylation of the adenylate kinase 5 promoter in colorectal adenocarcinoma. (nih.gov)
  • The probe carries an altered Tn5 transposon that allows detection of chromosomal promoter regions by virtue of acquired kanamycin resistance. (researchwithrutgers.com)
  • Transposition of the Tn5-VB32 promoter probe into the Caulobacter crescentus chromosome generated auxotrophic and motility mutants and Southern blot analysis of DNA from these mutants showed Tn5-VB32 sequences in random-sized chromosomal restriction fragments. (researchwithrutgers.com)
  • We measured differences in chromatin accessibility and searched the whole genome for chromosomal interactions between lipid-responsive gene promoters and enhancers to shed new light onto the genomic molecular mechanisms relevant for lipid responses in human adipocytes. (woofahs.com)
  • This review provides an overview of the genetics of SRS, and focuses on the newly defined candidate regions on chromosome 7. (bmj.com)
  • These multifaceted genetic and cellular approaches have permitted to dissect molecular interactions at the subcellular, intercellular, tissue and whole-animal level, thus allowing integration of cellular and developmental genetics with molecular imaging in the resulting frame of modern biology. (zfin.org)
  • One promising avenue for preventing depression and informing its clinical treatment lies in uncovering the genetic and environmental determinants of the disorder as well as their interaction (G×E). The overarching goal of this review article is to translate recent findings from studies of genetic association and G×E related to depression, particularly for readers without in-depth knowledge of genetics or genetic methods. (lww.com)
  • These results can be explained by our findings that feed-forward up-regulation of OsBRI1 did not occur in the Nipponbare-derived mutants and that an mPing transposon is inserted into the promoter region of Nipponbare OsBRI1. (scirp.org)
  • A promoter probe, Tn5-VB32, was constructed and placed in a P group R plasmid containing bacteriophage Mu sequences, allowing transfer of the transposon to bacteria such as Caulobacter, Rhizobium, and Agrobacterium without retention of the plasmid. (researchwithrutgers.com)
  • This Tn5 derivative also contained the intact tetracycline resistance-encoding region of the transposon Tn10. (researchwithrutgers.com)
  • We examined the developmental and heat shock induced expression of this gene by in situ hybridization of nonradioactively labelled riboprobe to cellular transcripts in intact embryos, larval and adult somatic tissues of wild type and an enhancer-trap line carrying the hsr(omega) 05241 allele due to insertion of a P-LacZ-rosy+ transposon at -130 bp position of the hsr(omega) promoter. (who.int)
  • In spite of insertion of a big transposon in the promoter, expression of the hsr(omega) 05241 allele in the enhancer-trap line, as revealed by in situ hybridization to hsr(omega) transcripts in cells, was similar to that of the wild type allele in all the embryonic, larval and adult somatic tissues examined. (who.int)
  • Tiny strands of genetic material called RNA - a chemical cousin of DNA - are emerging as major players in gene regulation, the process inside cells that drives all biology and that scientists seek to control in order to fight disease. (news-medical.net)
  • PTEN promoter silencing and Cowden syndrome: the role of epigenetic regulation of KILLIN. (medlineplus.gov)
  • We observed significantly less expression from the 338A variant in two human neuroblastoma cell lines and speculate that this promoter may be subject to tissue-specific regulation. (bris.ac.uk)
  • Our data, coupled with those from previous studies, suggest that lineage-specific promoter motifs are a theme of effector regulation in the phylum Nematoda. (cam.ac.uk)
  • The nature of such modular, combinatorial regulation of DNA replication at the genetic and epigenetic levels remains to be revealed. (nature.com)
  • Based on these results, we conclude that the expression of OsBRI1, especially its feed-forward up-regulation, is misregulated in wild-type Nipponbare and in brassinosteroid-related mutants in a Nipponbare genetic background. (scirp.org)
  • However, the mechanism leading to the inhibition of LHRH expression was not elucidated since a direct regulation for AP-2α on the LHRH promoter was not demonstrated. (biomedcentral.com)
  • Recent advances have allowed nucleosome dynamics on promoters to be studied in real time, dramatically changing how we think about gene regulation on chromatin templates. (ox.ac.uk)
  • IMSEAR at SEARO: Developmental regulation and complex organization of the promoter of the non-coding hsr(omega) gene of Drosophila melanogaster. (who.int)
  • Comparison of the expression patterns of hsr(omega) gene and those of the LacZ reporter gene under its various promoter regions in the enhancer-trap and transgenic lines revealed a complex pattern of regulation, which seems to be essential for its dynamically varying expression in diverse cell types. (who.int)
  • And in this module what I want to talk about is genetic regulation. (coursera.org)
  • And it turns out actually in previous modules in this unit I've already given you two examples of genetic regulation. (coursera.org)
  • That's an example of genetic regulation of epigenetics, a term that I'll define here in a couple min, minutes. (coursera.org)
  • At gene promoters, this multi-layered regulation gives rise to a nucleosome-depleted region (NDR) flanked by positionally stable nucleosomes enriched in the histone variant H2A.Z. Due to their role in establishing and maintaining this stereotypical promoter chromatin structure, remodelers have been a topic of intense research in the past two decades. (harvard.edu)
  • Adenovirus vectors generally have four strategies to achieve conditional replication: E1A specific promoter regulation, E1A CR2 deletion, E1A 13S CR3 deletion and E1B-55K deletion. (medicaltrend.org)
  • These changes and markers of genetic instability are driven by a failure of DNA repair systems and cell cycle regulation. (frontiersin.org)
  • We also found that hotspot regions contained fewer known retroelement sequences than expected and were overrepresented near transcription start and termination sites. (biomedcentral.com)
  • Promoter and 3' untranslated sequences are not included in the current analysis. (ggc.org)
  • Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes. (bvsalud.org)
  • In the smallest repeating unit of the packaged genetic material, or chromatin, ~150 DNA base pairs wrap around a core of histone proteins, forming the nucleosome. (harvard.edu)
  • The present review focuses on the molecular genetic mechanisms by which pathogenic genetic variants affect gene expression. (nih.gov)
  • A triggering event mediating the effect of a pathogenic genetic variant on the level of gene expression can be, for example, a change in the functional activity of transcription factor binding sites (TFBSs) or DNA methylation change, which, in turn, affects the functional activity of promoters or enhancers. (nih.gov)
  • published a review in the International Journal Of Molecular Sciences , expounding in detail from the convenience of genetic engineering strategies, foreign gene expression and immune system stimulation. (medicaltrend.org)
  • 2004. Cloning of the rat beta-catenin gene (Ctnnb1) promoter and its functional analysis compared with the Catnb and CTNNB1 promoters. . (oregonstate.edu)
  • Transient transfection of promoter-chloramphenicol O-acetyltransferase reporter constructs into primary human connective tissue fibroblasts shows that a 904 bp fragment that hybridizes to a murine TIMP-1 promoter fragment contains a functional promoter. (uea.ac.uk)
  • We prove that Axl is able to coordinate migration per se and by ChIP and promoter analysis we observe that its transcription is directly driven by AP-2α via the binding to one or more functional AP-2α binding sites present in its regulatory region. (biomedcentral.com)
  • However, such a complex system may be best studied with an unbiased and comprehensive interrogation of genetic and epigenetic factors and their interactions. (nature.com)
  • It is now well established that genetic mutations cooperate with epigenetic changes to drive the formation and progression of normal colorectal epithelium into adenocarcinomas. (biomedcentral.com)
  • related these differences observed among patients with factors such as sex, body weight or age (factors that we now know can affect genetic through epigenetic processes). (cdc.gov)
  • This dual reporter-gene system was confirmed using the inducible promoter, P tet , which was used to determine the strength of these predicted promoters with different strengths. (biomedcentral.com)
  • A bi-allelic tetranucleotide repeat in the promoter of the human inducible nitric oxide synthase gene. (ox.ac.uk)
  • These are the opmCherry reporter gene driven by the constitutive P lacUV5 promoter for calibration, and EGFP reporter gene driven by candidate promoters for quantification. (biomedcentral.com)
  • This study not only identified and characterized 38 promoters and four RBSs with different strengths for future metabolic engineering in Z. mobilis , but also established a flow cytometry-based dual reporter-gene system to characterize genetic elements including, but not limited to the promoters and RBSs studied in this work. (biomedcentral.com)
  • Moreover, the dual reporter-gene system developed in this study can be utilized to characterize other genetic elements of Z. mobilis , which can also be applied to other microorganisms. (biomedcentral.com)
  • We also examined LacZ expression in the enhancer-trap line and in two transgenic lines carrying different lengths of the hsr(omega) promoter upstream of the LacZ reporter. (who.int)
  • Here, we investigate the genetic basis and biological functions of DNA methylation at a population scale in maize. (biomedcentral.com)
  • IDH1/2 mutations are the histological classification and avoids the TeT2 pRomoteR methylation in low- most significant predictor of favourable ambiguity inherent to the diagnosis of gRade diffuse gliomas lacking idh1/2 outcome of glioblastoma patients. (who.int)
  • A follow-up cognitive genetic study evaluated the association of ECE1 SNPs in three additional cohorts of non-demented older people. (bris.ac.uk)
  • 0.05) of SNPs in the ECE-1b promoter with non-verbal reasoning scores, particularly in individuals lacking the APOE ε4 allele. (bris.ac.uk)
  • Genome-wide association analysis with high-density genetic markers reveals that over 60% of the DMRs are not tagged by SNPs, suggesting the presence of unique information in DMRs. (biomedcentral.com)
  • To evaluate the role of genetic variants at the TERT-CLPTM1L region in endometrial cancer risk, we carried out comprehensive fine-mapping analyses of genotyped and imputed SNPs using a custom Illumina iSelect array which includes dense SNP coverage of this region. (umn.edu)
  • DNA replication follows a strict spatiotemporal program that intersects with chromatin structure but has a poorly understood genetic basis. (nature.com)
  • We screened colorectal tumors from 92 patients for genetic variants at the ERBB4 ATG −1000 bp 5′-regulatory region by denaturing high-performance liquid chromatography and sequencing. (aacrjournals.org)
  • Outcomes Adipocyte-accessible chromatin recognizes regulatory regions To acquire individual major adipocytes for the analysis of lipid results on chromatin dynamics, we initial differentiated individual major white preadipocytes to adipocytes (Body 1a). (woofahs.com)
  • However, identification of the mechanisms of influence of pathogenic genetic variants on the diseases risk is difficult due to a wide variety of regulatory elements. (nih.gov)
  • Dissecting the regulatory roles of polymorphic loci have been impossible without close integration of modern experimental approaches with computer analysis of a growing wealth of genetic and biological data obtained using omics technologies. (nih.gov)
  • Metabolic engineering refers to the alteration of genetic and/or regulatory circuitry within organisms. (measurebiology.org)
  • The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients. (cdc.gov)
  • Also includes mutations in the protein-coding region that neither alter the amino acid sequence nor are predicted to significantly affect exon splicing, and base pair alterations in non-coding portions of the gene that have been demonstrated to have no deleterious effect on the length or stability of the mRNA transcript. (cdc.gov)
  • Recent studies have had significant success in isolating specific chromosome regions that may harbor susceptibility loci for anorexia and bulimia nervosa and are helping to shed light on the degree of heritability of eating disorders. (psychiatrictimes.com)
  • Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes. (who.int)
  • Analysis of migration in AP-2α null mouse embryo fibroblasts also reveals an essential role for AP-2α in cell movement via the activation of a distinct genetic programme. (biomedcentral.com)
  • AP-2α is a transcription factor essential for neural crest cell migration and its mutation results in apoptosis within this cell population, as demonstrated by genetic models. (biomedcentral.com)
  • 3) resources containing in silico predicted data on the potential impact of genetic variants on the transcription factor binding sites. (nih.gov)
  • Includes all missense mutations and mutations that occur in analyzed intronic regions whose clinical significance has not yet been determined, as well as chain-terminating mutations that truncate BRCA1 and BRCA2 distal to amino acid positions 1853 and 3308, respectively. (cdc.gov)
  • Point mutations within this region have further confirmed the role of this site, along with a more minor role for a neighbouring PEA3 site, in basal expression. (uea.ac.uk)
  • Mutations in the middle region (exons 22-42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017). (bmj.com)
  • The lack of association between four point mutations in the promoter region of the toll-like 4 receptor gene and myocardial infarction. (cdc.gov)
  • mutations high frequency of IDH1/2 mutations in oligodendrogliomas, astrocytomas and in alteRations in the RB1 pathway in The TET2 gene encodes the -KG- secondary glioblastomas derived thereof low-gRade diffuse gliomas lacking dependent enzyme that catalyses suggests that these tumours share a common genetic alteRations the conversion of 5-methylcytosine to common progenitor cell population. (who.int)
  • In the first, we summarize what is currently known about the genetic determinants of depression, focusing on findings from genome-wide association studies (GWAS). (lww.com)
  • The ample use of genome-wide and exome-wide association study methodology (GWAS and EWAS) made it possible to identify a large number of genetic variants associated with diseases. (nih.gov)
  • Genome-wide approaches to epidermal function include short interfering RNA-based genetic screens in cultured human epidermal cells 8 and RNA interference-mediated gene knockdown via in utero microinjection of lentiviral vectors 9 . (nature.com)
  • Both the 7p11.2-p13 and 7q31-qter regions are subject to genomic imprinting and the homologous regions in the mouse are associated with imprinted growth phenotypes. (bmj.com)
  • This review focuses on the influence of genomic imprinting in SRS and recent progress in defining two candidate SRS regions on both the p and q arms of chromosome 7. (bmj.com)
  • A variety of genomic features have been identified as being associated with regions of high recombination. (biomedcentral.com)
  • We hypothesized that these genomic responses then provide targeted regions harboring candidate PAX8 genetic variants for GxE analysis in the large UK Biobank cohort4. (woofahs.com)
  • d),d), offering evidence that people effectively differentiated the adipocytes differentiation of adipocytes qualified prospects to a rise in chromatin availability in regions very important to genomic legislation in adipocytes. (woofahs.com)
  • It highlights the importance of genomic surveillance in the Western Pacific and other endemic regions for understanding the spread of drug-resistant gonorrhoea worldwide. (who.int)
  • The large amount of genetic information accumulated in the post-genomic era needs to be transformed into knowledge 1 . (nature.com)
  • Nutrition researchers at Washington University School of Medicine in St. Louis have identified five common genetic variations that increase the risk of metabolic syndrome, a group of factors linked to heart disease and diabetes. (news-medical.net)
  • We developed a case-control study which explored the genetic variations between firefighters in the Fire Department of the City of New York (FDNY) with World Trade Center (WTC)-related sarcoidosis and those with WTC exposure, but without sarcoidosis. (cdc.gov)
  • Atopy is the term for the genetic trait to have a predisposition for localized anaphylaxis. (slideserve.com)
  • In this study, we explored the possibility to systematically predict the strength of promoters based on systems biology datasets. (biomedcentral.com)
  • however, they have never been systematically studied from a genetic perspective in Uruguay. (embrapa.br)
  • Tumor or tissue-specific promoters can control E1A-mediated virus replication so that it can only be expressed in tumor cells, but is low or not expressed in normal cells. (medicaltrend.org)
  • The genetic polymorphism in the region of IGF promoter region which is composed of cytosine adenine repeats, affects the promoter activity. (endocrine-abstracts.org)
  • Only the control group showed significant results for the probing depth according to the polymorphic region. (bvsalud.org)
  • Thanks to these early studies, patients now have access to important advances in the optimization of pharmacological treatment depending on the metabolic characteristics of the individual or the genetic characteristics of the tumor. (cdc.gov)
  • To broadly explore mitochondrial structure and function as well as the communication of mitochondria with other cellular pathways, we constructed a quantitative, high-density genetic interaction map (the MITO-MAP) in Saccharomyces cerevisiae. (thebiogrid.org)
  • Nevertheless, we identify more than 16,000 differentially methylated regions (DMRs) that are distributed across the 10 maize chromosomes. (biomedcentral.com)
  • positive for a deleterious mutation negative for a deleterious mutation genetic variant (three types - suspected deleterious, favor polymorphism, and uncertain clinical significance). (cdc.gov)
  • There are three possible categories of results for full DNA sequencing: 1) positive for deleterious mutation, 2) negative for deleterious mutation, and 3) genetic variant (three types - suspected deleterious, favor polymorphism and uncertain clinical significance). (cdc.gov)
  • Includes non-truncating genetic variants observed at a frequency of approximately 2 percent of a suitable control population (providing that no data suggest clinical significance), as will as all genetic variants for which published data demonstrate absence of substantial clinical significance. (cdc.gov)
  • Cold Spring Harbor, NY -- Cold Spring Harbor Laboratory Press announced the release of Genetic Counseling: Clinical Practice and Ethical Considerations, available on its website in Hardcover and Paperback formats. (cshlpress.org)
  • Deletions from the 3' end also implicate a region across the exon 1/intron 1 boundary and especially +21 to +58 in basal expression. (uea.ac.uk)
  • Rockefeller University scientists have discovered that the same enzyme that enables the immune system's defensive creativity is also responsible for a particular genetic malfunction - a translocation of one piece of DNA to the wrong chromosome - that causes Burkitt's lymphoma. (news-medical.net)
  • These key patients define two separate candidate regions for SRS on both the p and q arms of chromosome 7. (bmj.com)
  • The seven chromosome scaffolds were anchored to a previously published genetic linkage map with a high degree of synteny and comparisons to genomes of closely related species within the Rosoideae revealed chromosome-scale rearrangements that have occurred over relatively short evolutionary periods. (nibio.no)
  • Most of the variants identified by the GWAS technique are located in the noncoding regions of the human genome. (nih.gov)
  • As in previous lectures, I will illustrate some of the basic human genetic phenomena through case studies, in this case ranging from calico cats to the human genetic disorders of Angelman and Prader-Willi syndromes. (coursera.org)
  • Dr Heidi Mattock and use genetic data to identify the etiology of human canceRs. (who.int)
  • The co-aggregation detected to occur between streptococci and Actinomyces species has been proposed to be a major promoter of human oral biofilm formation [ 8 ]. (biomedcentral.com)
  • SRS may comprise different disorders with clinically similar phenotypes or may result from disruption of different components of a single biochemical or endocrinological pathway, in either case reflecting its genetic heterogeneity. (bmj.com)
  • We performed a microarray analysis to identify the genetic programme activated by AP-2α and observed the modulation of a master regulator of GnRH + neuron migration, the Adhesion Related Kinase ( Ark ) also called Axl . (biomedcentral.com)
  • Established and emerging evidence supports the notion that common genetic variants are additional factors that substantially influence nutrient requirements. (mdpi.com)
  • These results and further mapping with 5' deletion mutants from the -738/+95 region have demonstrated that an AP-1 site at -92/-86 is essential for basal expression of the gene. (uea.ac.uk)
  • An Epistatic MiniArray Profile (E-MAP) approach was used to quantitatively score genetic interactions based on fitness defects estimated from the colony size of double versus single mutants. (thebiogrid.org)
  • Although eating disorders have been considered to be largely sociocultural in origin, findings from family, twin and molecular genetic studies conducted during the last decade are refuting that perspective. (psychiatrictimes.com)
  • Although eating disorders have been considered to be largely sociocultural in origin, findings from family, twin and molecular genetic studies conducted during the last decade are refuting that perspective, an expert in genetic epidemiology told attendees at the recent 2nd World Congress on Women's Mental Health in Washington, D.C. (Bulik et al. (psychiatrictimes.com)
  • The International Diabetes Federation Further studies are needed to elucidate cholesterol (HDL-C) 1.03 mmol/L estimated that the prevalence of diabe- the effect of genetic background on the (40 mg/dL)], coronary heart disease, tes in the Bahraini population aged 20 role of adiponectin. (who.int)
  • Candidate promoters with different strengths were selected for further characterization, which include 19 strong, nine medium, and ten weak ones. (biomedcentral.com)
  • Are we missing a good synonym for promoter regions, genetic ? (synonyms.com)
  • The promoter is a region of DNA near the gene that controls gene activity (expression). (medlineplus.gov)
  • people with this type of genetic change have normal expression of the PTEN gene. (medlineplus.gov)
  • STATAWAARS: a promoter motif associated with spatial expression in the major effector-producing tissues of the plant-parasitic nematode Bursaphelenchus xylophilus. (cam.ac.uk)
  • We down-modulated AP-2α expression in GN-11 neurons by RNA interference and observe reduced neuron migration following the activation of a specific genetic programme including the Adhesion Related Kinase ( Axl ) gene. (biomedcentral.com)
  • A common SNP in the CD40 region is associated with systemic lupus erythematosus and correlates with altered CD40 expression: implications for the pathogenesis. (cdc.gov)
  • The region hybridizing with a murine TIMP-1 promoter fragment has been subcloned and analysed further. (uea.ac.uk)
  • A fragment of DNA containing the neomycin phosphotransferase II (NPT II) gene from Tn5, lacking its promoter region but retaining its translation initiation signal, was inserted into a Tn5 derivative that lacked the entire NPT II gene and a large portion of the IS50L sequence while retaining its ability to transpose. (researchwithrutgers.com)