Gene Deletion: 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.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Chromosome Deletion: Actual loss of portion of a chromosome.ATP-Binding Cassette Transporters: A family of MEMBRANE TRANSPORT PROTEINS that require ATP hydrolysis for the transport of substrates across membranes. The protein family derives its name from the ATP-binding domain found on the protein.Molecular Sequence Data: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Mutation: 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.ATP Binding Cassette Transporter 1: A superfamily of large integral ATP-binding cassette membrane proteins whose expression pattern is consistent with a role in lipid (cholesterol) efflux. It is implicated in TANGIER DISEASE characterized by accumulation of cholesteryl ester in various tissues.Integrases: Recombinases that insert exogenous DNA into the host genome. Examples include proteins encoded by the POL GENE of RETROVIRIDAE and also by temperate BACTERIOPHAGES, the best known being BACTERIOPHAGE LAMBDA.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Amino Acid Sequence: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Polymerase Chain Reaction: 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.Mutagenesis, Insertional: 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.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Plasmids: 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.Integrons: DNA elements that include the component genes and insertion site for a site-specific recombination system that enables them to capture mobile gene cassettes.Exons: 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.Bacterial Proteins: Proteins found in any species of bacterium.Mice, Inbred C57BLSaccharomyces cerevisiae: 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.Homozygote: An individual in which both alleles at a given locus are identical.Cloning, Molecular: 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.Blotting, Southern: 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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Genes, Bacterial: The functional hereditary units of BACTERIA.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Gene Targeting: The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.Promoter Regions, Genetic: 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.Escherichia coli: 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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Gene Knockout Techniques: Techniques to alter a gene sequence that result in an inactivated gene, or one in which the expression can be inactivated at a chosen time during development to study the loss of function of a gene.Genetic Vectors: 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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.DNA Primers: 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.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Genetic Engineering: Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc.Genetic Complementation Test: 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.RNA, Messenger: 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.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Saccharomyces cerevisiae Proteins: 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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Multigene Family: 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)Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Genes, Fungal: The functional hereditary units of FUNGI.DNA: 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).Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Genes, Essential: Those genes found in an organism which are necessary for its viability and normal function.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Gene Expression Regulation: 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.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Gene Expression Regulation, Fungal: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.DNA-Binding Proteins: 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.Gene Expression Regulation, Bacterial: Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Fungal Proteins: Proteins found in any species of fungus.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.DNA Transposable Elements: 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.Cells, Cultured: 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.Protein Structure, Tertiary: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.Signal Transduction: 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.Protein Binding: 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.Reverse Transcriptase Polymerase Chain Reaction: 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.Sequence Alignment: 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.Membrane Proteins: 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.Models, Genetic: 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.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.Genome, Fungal: The complete gene complement contained in a set of chromosomes in a fungus.Virulence: The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.Recombinant Fusion Proteins: 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.Transgenes: Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Biological Transport: The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.Genes: 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.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Green Fluorescent Proteins: 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.Syndrome: A characteristic symptom complex.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Introns: 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.Hemoglobins, Abnormal: Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.Polymorphism, Genetic: 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.Abnormalities, MultipleOpen Reading Frames: 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).Genes, Reporter: 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.Escherichia coli Proteins: Proteins obtained from ESCHERICHIA COLI.Gene Order: The sequential location of genes on a chromosome.delta-Thalassemia: A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Dystrophin: A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Haploinsufficiency: A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.Multidrug Resistance-Associated Proteins: A sequence-related subfamily of ATP-BINDING CASSETTE TRANSPORTERS that actively transport organic substrates. Although considered organic anion transporters, a subset of proteins in this family have also been shown to convey drug resistance to neutral organic drugs. Their cellular function may have clinical significance for CHEMOTHERAPY in that they transport a variety of ANTINEOPLASTIC AGENTS. Overexpression of proteins in this class by NEOPLASMS is considered a possible mechanism in the development of multidrug resistance (DRUG RESISTANCE, MULTIPLE). Although similar in function to P-GLYCOPROTEINS, the proteins in this class share little sequence homology to the p-glycoprotein family of proteins.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Glutathione Transferase: A transferase that catalyzes the addition of aliphatic, aromatic, or heterocyclic FREE RADICALS as well as EPOXIDES and arene oxides to GLUTATHIONE. Addition takes place at the SULFUR. It also catalyzes the reduction of polyol nitrate by glutathione to polyol and nitrite.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Blotting, Western: 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.Viral Proteins: Proteins found in any species of virus.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Metabolic Networks and Pathways: Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Muscular Dystrophies: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)Sequence Homology, Nucleic Acid: 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.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Repressor Proteins: 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.Comparative Genomic Hybridization: A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.alpha-Globins: Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.Repetitive Sequences, Nucleic Acid: 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).Genome, Bacterial: The genetic complement of a BACTERIA as represented in its DNA.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.Genetic Techniques: Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Steroid 21-Hydroxylase: An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).Nuclear Proteins: 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.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Genetics, Microbial: A subdiscipline of genetics which deals with the genetic mechanisms and processes of microorganisms.Metabolic Engineering: Methods and techniques used to genetically modify cells' biosynthetic product output and develop conditions for growing the cells as BIOREACTORS.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Clonal Deletion: Removal, via CELL DEATH, of immature lymphocytes that interact with antigens during maturation. For T-lymphocytes this occurs in the thymus and ensures that mature T-lymphocytes are self tolerant. B-lymphocytes may also undergo clonal deletion.Operon: 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.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Recombinases: A broad category of enzymes that are involved in the process of GENETIC RECOMBINATION.Membrane Transport Proteins: Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Drug Resistance, Multiple: Simultaneous resistance to several structurally and functionally distinct drugs.DNA Probes: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA 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 DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.Genetic Variation: Genotypic differences observed among individuals in a population.Nerve Tissue ProteinsDNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.DNA, Complementary: 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.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Protein Transport: The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Genes, Viral: The functional hereditary units of VIRUSES.P-Glycoprotein: A 170-kDa transmembrane glycoprotein from the superfamily of ATP-BINDING CASSETTE TRANSPORTERS. It serves as an ATP-dependent efflux pump for a variety of chemicals, including many ANTINEOPLASTIC AGENTS. Overexpression of this glycoprotein is associated with multidrug resistance (see DRUG RESISTANCE, MULTIPLE).Anti-Bacterial Agents: Substances that reduce the growth or reproduction of BACTERIA.Karyotyping: Mapping of the KARYOTYPE of a cell.Neuronal Apoptosis-Inhibitory Protein: An inhibitor of apoptosis protein that was initially identified during analysis of CHROMOSOME DELETIONS associated with SPINAL MUSCULAR ATROPHY. Naip contains a nucleotide binding oligomerization domain and a carboxy-terminal LEUCINE rich repeat.Embryo, Mammalian: The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.Oligonucleotide Array Sequence Analysis: 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: 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.Cyclin-Dependent Kinase Inhibitor p16: A product of the p16 tumor suppressor gene (GENES, P16). It is also called INK4 or INK4A because it is the prototype member of the INK4 CYCLIN-DEPENDENT KINASE INHIBITORS. This protein is produced from the alpha mRNA transcript of the p16 gene. The other gene product, produced from the alternatively spliced beta transcript, is TUMOR SUPPRESSOR PROTEIN P14ARF. Both p16 gene products have tumor suppressor functions.DNA Restriction Enzymes: 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.Virus Replication: The process of intracellular viral multiplication, consisting of the synthesis of PROTEINS; NUCLEIC ACIDS; and sometimes LIPIDS, and their assembly into a new infectious particle.Thalassemia: A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.Lac Operon: 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.Haloferax volcanii: A species of halophilic archaea found in the Dead Sea.Hemoglobin H: An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.Kinetics: The rate dynamics in chemical or physical systems.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.alpha-Thalassemia: A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.Heterozygote Detection: Identification of genetic carriers for a given trait.Liver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Gene Expression Regulation, Developmental: 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.Trans-Activators: Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.Organisms, Genetically Modified: Organisms whose GENOME has been changed by a GENETIC ENGINEERING technique.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Globins: A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Genes, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.Virulence Factors: Those components of an organism that determine its capacity to cause disease but are not required for its viability per se. Two classes have been characterized: TOXINS, BIOLOGICAL and surface adhesion molecules that effect the ability of the microorganism to invade and colonize a host. (From Davis et al., Microbiology, 4th ed. p486)Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Species Specificity: 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.Drug Resistance, Bacterial: The ability of bacteria to resist or to become tolerant to chemotherapeutic agents, antimicrobial agents, or antibiotics. This resistance may be acquired through gene mutation or foreign DNA in transmissible plasmids (R FACTORS).X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Blotting, Northern: 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.Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.Williams Syndrome: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.22q11 Deletion Syndrome: Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.Adenosine Triphosphate: An adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.Deoxyribonucleases, Type II Site-Specific: Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 3.1.21.4.Haplotypes: 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.Cyclin-Dependent Kinase Inhibitor p15: An INK4 cyclin-dependent kinase inhibitor containing four ANKYRIN-LIKE REPEATS. INK4B is often inactivated by deletions, mutations, or hypermethylation in HEMATOLOGIC NEOPLASMS.Biosynthetic Pathways: Sets of enzymatic reactions occurring in organisms and that form biochemicals by making new covalent bonds.Apoptosis: One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.Macrophages: The relatively long-lived phagocytic cell of mammalian tissues that are derived from blood MONOCYTES. Main types are PERITONEAL MACROPHAGES; ALVEOLAR MACROPHAGES; HISTIOCYTES; KUPFFER CELLS of the liver; and OSTEOCLASTS. They may further differentiate within chronic inflammatory lesions to EPITHELIOID CELLS or may fuse to form FOREIGN BODY GIANT CELLS or LANGHANS GIANT CELLS. (from The Dictionary of Cell Biology, Lackie and Dow, 3rd ed.)DNA, Viral: Deoxyribonucleic acid that makes up the genetic material of viruses.Tumor Cells, Cultured: Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.Muscular Dystrophy, Duchenne: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Cell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.Organ Specificity: Characteristic restricted to a particular organ of the body, such as a cell type, metabolic response or expression of a particular protein or antigen.Gene Silencing: Interruption or suppression of the expression of a gene at transcriptional or translational levels.Gene Transfer Techniques: The introduction of functional (usually cloned) GENES into cells. A variety of techniques and naturally occurring processes are used for the gene transfer such as cell hybridization, LIPOSOMES or microcell-mediated gene transfer, ELECTROPORATION, chromosome-mediated gene transfer, TRANSFECTION, and GENETIC TRANSDUCTION. Gene transfer may result in genetically transformed cells and individual organisms.
... mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter". Proc. Natl. Acad. Sci. U.S.A. 97 ( ... small deletion or large deletion). Although there have been reports of autosomal dominant inheritance, the inheritance is ... It is thought that particular mutations do not cause a more severe or less severe form of the disease. Given the variations in ... PXE has the distinction of being the only disease for which a layperson is the inventor of the gene. The ABCC6 gene mutation ...
An insertion/deletion polymorphism at this site reduces expression of the ARMS2 gene though destabilization of its mRNA through ... Large and soft drusen are thought to be related to elevated cholesterol deposits. Early AMD is diagnosed based on the presence ... lipoprotein lipase and the ATP-binding cassette A1 correlate with disease progression. The early stigmata of disease, drusen, ... on chromosome 6 at 6p21.3 Polymorphisms in genes for complement system proteins: The genes for the complement system proteins ...
The mecA gene is contained on a mobile gene element, called the staphylococcal cassette chromosome mec, from which the gene can ... These two genes have the capability to repress mecA, deletions or knock-outs in these genes show an increase in resistance of S ... PBPs have a transpeptidase domain, but transglycosylation was thought to only be carried out by monofunctional enzymes, however ... This DNA cassette is a 52 kilobase piece of DNA, that contains the mecA gene, and two recombinase genes, ccrA and ccrB, which ...
... is an ATP-binding cassette transporter that in humans is encoded by the ABCC9 gene. The protein encoded by this gene is a ... This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth ... two of which result from differential usage of two terminal exons and one of which results from exon deletion. SUR2A - uses ... "Entrez Gene: ABCC9 , ATP-binding cassette, sub-family C (CFTR/MRP), member 9". Harakalova, Magdalena; van Harssel, Jeske J T; ...
Gene deletion is the opposite of gene amplification, where a region of a chromosome is lost an drug resistance occurs by losing ... This transporter protein is encoded by the MDR1 gene and is also called the ATP-binding cassette (ABC) protein. MDR1 has ... The over amplification of oncogenes can occur in response to chemotherapy, thought to be the underlying mechanism in several ... Chromosomal rearrangement due to genome instability can cause gene amplification and deletion. Gene amplification is the ...
In the serine proteases, a gene duplication event has led to the formation of a two β-barrel domain enzyme. The repeats have ... Domains are the common material used by nature to generate new sequences; they can be thought of as genetically mobile units, ... ABC transporters are built with up to four domains consisting of two unrelated modules, ATP-binding cassette and an integral ... deletions and duplications; homologous recombination; slippage of DNA polymerase during replication. The simplest multidomain ...
ncRNAs are also thought to regulate gene expression, so deletion studies have a hard time distinguishing effects of ncRNA loss ... The effect of internal (stem-loop) insertion size on dCas9 complex was assessed using INT-like constructs with cassettes of PP7 ... as well as specific regulation of certain genes for investigation of gene function. ... from effects of gene misregulation due to the deletion. Studies of ncRNAs have also lacked the throughput necessary for ...
"Deletion of the DNA polymerase beta gene in T cells using tissue-specific gene targeting". Science. 265: 103-106. doi:10.1126/ ... In addition, sequence excision can happen in trans instead of a in cis cassette exchange event. The loxP mutants are created to ... For many years, it was thought that when the Holliday junction intermediate was formed, the branch point of the junction (where ... 1995). "T-cell specific deletion of a polypeptide N-acetylgalactosaminyltransferase gene by site-directed recombination". Proc ...
... which can integrate gene cassettes. There are over 40 antibiotic resistance genes identified on cassettes, as well as virulence ... Bacteria may undergo high rates of gene deletion as part of a mechanism to remove TEs and viruses from their genomes, while ... A helitron is a TE found in eukaryotes that is thought to replicate by a rolling-circle mechanism. In human embryos, two types ... Because interspersed repeats block gene conversion, they protect novel gene sequences from being overwritten by similar gene ...
These were originally thought to be scattered only around the centrosomes, but further studies proved that PCM1 was also found ... Pericentriolar material 1, also known as PCM1, is a protein which in humans is encoded by the PCM1 gene. The PCM1 protein was ... overexpression of PCM1 deletion mutants and PCM1 antibody microinjection. As a result of this depletion, the radial ... erythropoietin receptor precursor and the ATPbinding cassette, sub-family A, member 2 (ABCA2). PCM1 mRNA expression in the ...
These genes are divided based on sequence similarity into two subtypes CNGA and CNGB. Additional genes that code for CNG ... CNG ion channels are also thought to be involved in pollen development in plants, however its exact role in this mechanism is ... The ligand might be placed at the bottom of the cavity due to interactions with the phosphate binding cassette (PBC). This ... Eight mutations have been identified- four are nonsense mutations, one is a deletion that includes most of the transcriptional ...
The genes encoding the components of PVL are encoded on a bacteriophage found in community-associated MRSA strains.[citation ... Deletion of the motif resulted in IcaR repressor accumulation and inhibition of biofilm development. The biofilm formation is ... Resistance to methicillin is mediated via the mec operon, part of the staphylococcal cassette chromosome mec (SCCmec). ... with environmental contamination thought to play a relatively unimportant part. Emphasis on basic hand washing techniques are, ...
"A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle". Nature Genetics. 17 (1): 71-74. doi: ... It is thought that binding of myostatin to the soluble activin receptor prevents it from interacting with the cell-bound ... defective myostatin were created by replacing sequences coding for the C-terminal region of myostatin with a neomycin cassette ... The gene encoding myostatin was discovered in 1997 by geneticists Se-Jin Lee and Alexandra McPherron who produced a knockout ...
... separately developed perlecan knockout mouse model was created by insertion of a neomycin cassette into exon 7 of the pln gene ... This deletion abolished heparan sulfate chain attachment to the resulting core protein in vivo. The ensuing study showed that ... It is thought that the driving force behind heparanase and chondroitinase activation of osteogenesis is release of bone ... In another study, hypoxia led to induction of genes associated with apoptosis and cell death, but repression of genes was not ...
These two genes are commonly co-amplified (present in excess copies) in breast cancers. GRB7 thought to be involved in ... Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens ... identification of a c-Src/Cav-1/Grb7 signaling cassette". Molecular Endocrinology. 14 (11): 1750-75. doi:10.1210/me.14.11.1750 ... The product of this gene belongs to a small family of adaptor proteins that are known to interact with a number of receptor ...
Examples of manipulations are: Deletion of one or more T3SS genes (gene knockout). Overexpression of one or more T3SS genes (in ... evolution and phylogenetic analysis supports a model in which gram-negative bacteria can transfer the T3SS gene cassette ... which is thought to determine the needle's length; see above) and the ATPase, which supplies energy for secretion. The ... PhoP-repressed gene Inv: Invasion Org: Oxygen-regulated gene Ssp: Salmonella-secreted protein Iag: Invasion-associated gene ...
Interestingly, targeted deletion of S1P1 results in lethality in mice and deletion of S1P2 results in seizures and deafness. ... Lipid signaling is thought to be qualitatively different from other classical signaling paradigms (such as monoamine ... To overcome this difficulty, the ATP-binding cassette (ABC) transporter C1 (ABCC1) serves as the "exit door" for S1P. On the ... Inhibition of ceramide synthesis in mice via drug treatments or gene-knockout techniques prevented insulin resistance induced ...
Segments of the silent cassettes recombine with the vlsE gene, generating variants of the surface lipoprotein antigen.[7] ... However, unlike T. brucei, the mechanism by which var switching occurs in P. falciparum is thought to be purely transcriptional ... PfEMP1 is encoded by the diverse family of genes known as the var family of genes (approximately 60 genes in all). The ... These VSG genes become activated by gene conversion in a hierarchical order: telomeric VSGs are activated first, followed by ...
... which can integrate gene cassettes. There are over 40 antibiotic resistance genes identified on cassettes, as well as virulence ... Bacteria may undergo high rates of gene deletion as part of a mechanism to remove TEs and viruses from their genomes, while ... A helitron is a TE found in eukaryotes that is thought to replicate by a rolling-circle mechanism. ... Because interspersed repeats block gene conversion, they protect novel gene sequences from being overwritten by similar gene ...
... mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter". Proc. Natl. Acad. Sci. U.S.A. 97 ( ... small deletion or large deletion). Although there have been reports of autosomal dominant inheritance, the inheritance is ... It is thought that particular mutations do not cause a more severe or less severe form of the disease. Given the variations in ... PXE has the distinction of being the only disease for which a layperson is the discover of the mutated gene. The ABCC6 gene ...
... and deletion of the pre-1 receptor gene in N. crassa, as well as deletion of both pheromone-receptor genes in A. nidulans, ... The ppg2 deletion construct pPPG2-KO was generated by cloning the 1.4-kb SalI hph cassette of pCB1003 (Carrollet al. 1994) into ... The S. macrospora pheromone-precursor gene ppg2 encodes a 24-amino-acid polypeptide. The precursor is thought to be N- and C- ... Deletion of the S. macrospora pheromone-receptor gene pre2 was generated as follows. The 5′- and 3′-regions of the pre2 gene ...
Paramyxoviruses are thought to edit their P gene mRNAs co-transcriptionally, by a mechanism in which the polymerase stutters ... When SeV synthetic mini-genomes containing either SeV or bPIV3 P gene editing cassettes are expressed from cDNA in cells which ... Paramyxovirus mRNA editing leads to G deletions as well as insertions.. Jacques JP1, Hausmann S, Kolakofsky D. ... Sendai virus (SeV) and bovine parainfluenza virus type 3 (bPIV3) are closely related viruses, but SeV edits its P gene mRNA ...
ABCC9 is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules ... The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins ... This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth ... two of which result from differential usage of two terminal exons and one of which results from exon deletion. ...
... mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter". Proc. Natl. Acad. Sci. U.S.A. 97 ( ... small deletion or large deletion). Although there have been reports of autosomal dominant inheritance, the inheritance is ... It is thought that particular mutations do not cause a more severe or less severe form of the disease. Given the variations in ... PXE has the distinction of being the only disease for which a layperson is the inventor of the gene. The ABCC6 gene mutation ...
Sendai virus (SeV) and bovine parainfluenza virus type 3 (bPIV3) are closely related viruses, but SeV edits its P gene mRNA wi ... Paramyxoviruses are thought to edit their P gene mRNAs co-transcriptionally, by a mechanism in which the polymerase stutters ... Paramyxoviruses are thought to edit their P gene mRNAs co-transcriptionally, by a mechanism in which the polymerase stutters ... When SeV synthetic mini-genomes containing either SeV or bPIV3 P gene editing cassettes are expressed from cDNA in cells which ...
Use of Direct gene deletion by one-step PCR method, I want to make the linear DNA fragments, which is consists of (5 ... I want to use the template DNA, which is URA3 gene on YCp50, as a making of cassette. ------- kaz --- ______________O_________ ... think you are having a problem. This will allow the experts of this ** group to provide you (preferably via a posting to this ... Gene disruption. HASHIGUCHI Kazunari kaz at kingyo.zool.kyoto-u.ac.jp Fri Feb 2 06:06:56 EST 2001 *Previous message: Expression ...
... engineering that was used to generate an ES cell line with a megabase deletion encompassing the tumour suppressor gene ... that can be employed for in vitro recovery of intervening sequences or the generation of in vivo deletions. This strategy may ... deletions, inversions, translocations) are a hallmark of human tumour cells. Yet, the generation of animal models for gross ... Malignant cells often carry chromosomal deletions thought to encompass tumour suppressor genes (Johansson et al., 1993). Such ...
An insertion/deletion polymorphism at this site reduces expression of the ARMS2 gene though destabilization of its mRNA through ... Large and soft drusen are thought to be related to elevated cholesterol deposits. Early AMD is diagnosed based on the presence ... lipoprotein lipase and the ATP-binding cassette A1 correlate with disease progression. The early stigmata of disease, drusen, ... on chromosome 6 at 6p21.3 Polymorphisms in genes for complement system proteins: The genes for the complement system proteins ...
They approach the deletion of the typelllres gene using a knock-out cassette (a fused sequence of DNA represented above). The ... I think the use of the control (indicated in the green box) was a novel use of that deletion construct in this table. While ... After inducing the Gal1 promoter in the cassette, the SCEI gene is activated and cleaves the cassette out of the genome leading ... at this figure I like part A because I think the cassette mechanism used was a novel approach to deleting a specific gene. I ...
Deletion of genes within the LIPI-3 gene cluster.Previous in silico investigations have suggested that the presence of Rho- ... The llsB and llsD genes resemble sagB and sagD, respectively (8), llsP is thought to be the equivalent of sagE (18% identity ... the putative ATP binding cassette (ABC) transport machinery coded by the llsGH genes is represented by three open reading ... whereas the deletion of the llsP gene had no effect on the hemolytic phenotype. Similarly, deletion of the downstream lmof2365_ ...
... to yield the Aaku80 deletion mutant (MR12). The gene-targeting efficiency at the ornithine carbamoyltransferase (argB) locus ... We developed a method to enable reversible impairment of the ku80 gene (Aaku80) in the imperfect fungus Aspergillus aculeatus. ... AB741874). The Aaku80 gene in pyrG13 (Aaku80+, pyrG-) was replaced with AnpyrG using the Aaku80 deletion cassette (Figure 1a). ... 1994]), longer DRs were thought to be required in filamentous fungi ([Hynes 1996]; [Maruyama and Kitamoto 2008]; Nielsen et al ...
New method for Escherichia coli using the Bacillus subtilis sacB gene and a generating deletions and gene replacements in ... but it is thought that periplas- Alternatively, the integration cassette may be removed resulting mic SacB creates large levan ... New method for Escherichia coli using the Bacillus subtilis sacB gene and a generating deletions and gene replacements in ... If the strain encodes lacI, then other as well as to the linearized deletion cassette (amplified from pDEL). If re- IPTG is ...
... for genomic integration of marker cassettes ("neutral transformations") and for gene deletion [as in Maier et al. (2015)]. For ... Your Name) thought you would be interested in this article in G3: Genes , Genomes , Genetics. ... 0.67 per gene deletion strain) affected amino acids and none occurred in genes with obvious relationships to the deleted gene. ... Side effects of transformation with gene deletion. For the six strains in which a gene was deleted, the situation was different ...
... and spb genes are thought to be equivalent to the homologous regB, senC,regA, and hvrA genes, respectively (see the text). ... The kanamycin cassette in the plasmid pUCKM1 (53) was inserted into the PinAI sites of the regA gene of Rhodovulum ... Deletion analysis of these genes inRhodovulum sulfidophilum and complementation analysis ofRhodobacter capsulatus reg mutations ... Gene cloning and regulation of gene expression of the puc operon from Rhodovulum sulfidophilum.Biochim. Biophys. Acta13511997 ...
Δ( ) = chromosomal deletion of genes between the listed genes (may include unlisted genes!) ... DE3 prophage carrying T7 polymerase expression cassette. * Same cassette as BL21(DE3) carrying a lac inducible T7 RNA ... But I think its safe to assume that the F in this strain is derived from or similar to F128 which extends from the proBA ... A listed gene name means that gene carries a loss of function mutation, a Δ preceding a gene name means the gene is deleted. If ...
I think this may be whats happening in the new data as well, since the file for genes down-regulated in the HI0660 deletion ... The genes were knocked out using a spec cassette that replaces the majority of the coding sequence of the gene. In the case of ... of the gene HI0659 over time in the sequenced strains. Strains were HI_0659 = antitoxin deletion, HI_0660 = toxin deletion, ... of the gene HI0660 over time in the sequenced strains. Strains were HI_0659 = antitoxin deletion, HI_0660 = toxin deletion, ...
Feb 21, · We have systematically made a set of precisely defined, single-gene deletions of all nonessential genes in ... 9 thoughts on " Todesfuge - Rose Resistance (Cassette) " * Kazragami says: 08.10.2019 at 20:08 ... Cassette. €23 EUR. Dragon Skin - Dragon Skin Cassette + 2 Cassettes of your choice Rose Resistance - Limited Edition Cassette ... SunRace CSM63 7-Speed Nickel Plated Cassette out of 5 stars 4 LITEONE 8 Speed Cassette T MTB Cassette 8 Speed Fit for Mountain ...
... because the reporter cassette contains two genes (yEGFP and NAT), it can be adapted to measure large deletions by looking for ... 4B). This mutation spectrum recapitulates that of the msh2Δ strain in S. cerevisiae and is thought to be due to DNA polymerase ... A) A cassette containing pTEF1-driven yEGFP linked to the gene encoding nourseothricin resistance (NAT) under its own promoter ... 1A) in a C. glabrata strain derived from ATCC 2001 but carrying a deletion of DNA mismatch repair (MMR) gene MSH2 (24). MSH2 is ...
mec Gene Analyses.. The SCCmec type was determined for 304 MRSA isolates by PCR detection of the ccr (cassette chromosome ... The ccr and mec genes that are the basis of SCCmec typing are thought to have first been introduced into coagulase-negative ... where deletion of the mec regulatory genes occurred, and then into S. aureus. It is unclear which staphylococcal species ... staphylococcal cassette chromosome mec;. GISA,. glycopeptide intermediately susceptible S. aureus;. MLST,. multilocus sequence ...
In this study, we found that the deletion of mrp significantly impairs the hFg-mediated adherence and traversal ability of S. ... In this study, we found that the deletion of mrp significantly impairs the hFg-mediated adherence and traversal ability of S. ... Δmrp was constructed by targeted gene allelic replacement with a constitutively expressed chloromycin resistance cassette as we ... The S. suis strain 05ZYH33 and the isogenic deletion mutant 05ZYH33Δ mrp used in this study were cultured as previously ...
... it is thought that transgene expression above a threshold level triggers gene silencing. Therefore, it is important to study ... and inverted repeats of full-length and truncated copies of the transgene cassette generate aberrant RNA resulting in gene ... Therefore, for stable gene expression, a single copy transgene locus is preferred. However, even single copy locus sometimes ... They are very useful tools in the integration of single-copy full-length transgene cassettes into the genome because the ...
Of course the deletion has to be synced to all , , remote-copies and probably also forwarded to older backups but once such a , ... gene heskett ,gheskett at wdtv.com, wrote: , , , , Now, if we can just get a law that when I have ... issued the delete to , ... I dont think google uses magnet-tapes or similar for any backups except the , , vital core data of its business. Given the ... On a coil, but a cassette. Wearhousing will be very, very expensive too. I hear audio tapes that are older than Im and they ...
This suggested that the pas genes are not involved in replication and function as a stabilisation cassette. The pasA gene ... The deletion of the pas genes has been shown not to change the copy number of mutant plasmids. ... PasC is thought to stabilise the interaction of PasA and PasB and in doing so reduces their ability to function as repressors ... The IncQ plasmid RSF1010 which has similarity to pTF-FC2 has two genes in a position analogous to the pasA, pasB and pasC genes ...
In these mice, a cassette encoding IRES-eGFP had been inserted into the 3′ untranslated region of the Foxp3 gene, generating a ... Deletion of Tet2 alone had no effect, and deletion of Tet3 alone had only a mild effect, on the DNA modification status of CNS1 ... both thought to be T reg cell precursors; thymic CD25+Foxp3+ T reg cells; and peripheral T reg cells (Fig. S1 A). Because ... or genetic deletion of the gene encoding DNMT1 (Josefowicz et al., 2009), eliminated the requirement for TGF-β and promoted ...
While in this study in vitro transcribed guide RNAs were cotransformed with the deletion cassette into a Cas9 expressing T. ... Using 200 bp up- and downstream flanking regions for the gene deletion construct, HR frequencies of higher than 90 % could be ... Strain development of T. reesei was for a long time hampered by the fact that the fungus was thought to be asexual preventing ... Double deletions and triple deletions occurred at a frequency of 45 and 4 %, respectively, following a single round of ...

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