Substances, usually of biological origin, that cause cells or other organic particles to aggregate and stick to each other. They include those ANTIBODIES which cause aggregation or agglutination of particulate or insoluble ANTIGENS.
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.
Deletion of sequences of nucleic acids from the genetic material of an individual.
Actual loss of portion of a chromosome.
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 sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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.
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.
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.
An individual in which both alleles at a given locus are identical.
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.
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.
Biochemical identification of mutational changes in a nucleotide sequence.
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.
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.
Any method used for determining the location of and relative distances between genes on a chromosome.
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.
An individual having different alleles at one or more loci regarding a specific character.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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.
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.
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.
Those genes found in an organism which are necessary for its viability and normal function.
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.
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.
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.
The functional hereditary units of FUNGI.
The recognition of professional or technical competence through registration, certification, licensure, admission to association membership, the award of a diploma or degree, etc.
Compliance with a set of standards defined by non-governmental organizations. Certification is applied for by individuals on a voluntary basis and represents a professional status when achieved, e.g., certification for a medical specialty.
Branch of medicine concerned with the prevention and control of disease and disability, and the promotion of physical and mental health of the population on the international, national, state, or municipal level.
A nursing specialty concerned with promoting and protecting the health of populations, using knowledge from nursing, social, and public health sciences to develop local, regional, state, and national health policy and research. It is population-focused and community-oriented, aimed at health promotion and disease prevention through educational, diagnostic, and preventive programs.
The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.
Those rights or activities which are specific to members of the institution's medical staff, including the right to admit private patients.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)
Forms of hepcidin, a cationic amphipathic peptide synthesized in the liver as a prepropeptide which is first processed into prohepcidin and then into the biologically active hepcidin forms, including in human the 20-, 22-, and 25-amino acid residue peptide forms. Hepcidin acts as a homeostatic regulators of iron metabolism and also possesses antimicrobial activity.
Membrane glycoproteins found in high concentrations on iron-utilizing cells. They specifically bind iron-bearing transferrin, are endocytosed with its ligand and then returned to the cell surface where transferrin without its iron is released.
An iron-binding beta1-globulin that is synthesized in the LIVER and secreted into the blood. It plays a central role in the transport of IRON throughout the circulation. A variety of transferrin isoforms exist in humans, including some that are considered markers for specific disease states.
A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids.
The internal portion of the kidney, consisting of striated conical masses, the renal pyramids, whose bases are adjacent to the cortex and whose apices form prominent papillae projecting into the lumen of the minor calyces.
Antidiuretic hormones released by the NEUROHYPOPHYSIS of all vertebrates (structure varies with species) to regulate water balance and OSMOLARITY. In general, vasopressin is a nonapeptide consisting of a six-amino-acid ring with a cysteine 1 to cysteine 6 disulfide bridge or an octapeptide containing a CYSTINE. All mammals have arginine vasopressin except the pig with a lysine at position 8. Vasopressin, a vasoconstrictor, acts on the KIDNEY COLLECTING DUCTS to increase water reabsorption, increase blood volume and blood pressure.
Straight tubes commencing in the radiate part of the kidney cortex where they receive the curved ends of the distal convoluted tubules. In the medulla the collecting tubules of each pyramid converge to join a central tube (duct of Bellini) which opens on the summit of the papilla.
Aquaporin 6 is an aquaglyceroporin that is found primarily in KIDNEY COLLECTING DUCTS. AQP6 protein functions as an anion-selective channel.
Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.
Aquaporin 2 is a water-specific channel protein that is expressed in KIDNEY COLLECTING DUCTS. The translocation of aquaporin 2 to the apical PLASMA MEMBRANE is regulated by VASOPRESSIN, and MUTATIONS in AQP2 have been implicated in a variety of kidney disorders including DIABETES INSIPIDUS.
... non-protein-coding genes, and chromosomal structural elements) under selection for biological function.. " Mouse Genome ... Large-scale sequencing of the chimpanzee genome is now imminent.. ". Olson M, Varki A. Sequencing the chimpanzee genome: ... deletion)、插入(insertion)、複寫(duplication),以及複雜多位置變異(complex multi-site variants)的合稱,在所有人類以及其他已測試的哺乳動物中皆可發現。 ... 基
Gene content and protein synthesisEdit. The chloroplast genome most commonly includes around 100 genes[7][10] which code for a ... Its existence was first proven in 1962,[4] and first sequenced in 1986-when two Japanese research teams sequenced the ... RNA editing is the insertion, deletion, and substitution of nucleotides in a mRNA transcript prior to translation to protein. ... corresponding to about 4,500 protein-coding genes.[33] There have been a few recent transfers of genes from the chloroplast DNA ...
The DNA sequence of a gene often varies from one individual to another. Those variations are called alleles. While some genes ... An individual that is homozygous-dominant for a particular trait carries two copies of the allele that codes for the dominant ... due to mutations or deletions in the other alleles.[4] ... But most genes have two or more alleles. The frequency of ... Some genes may have two alleles with equal distribution. For other genes, one allele may be common, and another allele may be ...
The genetic basis of the phenotypic differences between the two strains results from coding, regulatory, and insertion/deletion ... The Caulobacter CB15 genome has 4,016,942 base pairs in a single circular chromosome encoding 3,767 genes.[7] The genome ... In 2010, the Caulobacter NA1000 strain was sequenced and all differences with the CB15 "wild type" strain were identified.[6] ... These five proteins directly control the timing of expression of over 200 genes. The five master regulatory proteins are ...
Scully LJ, Toze C, Sengar DP, Goldstein R (May 1993). "Early-onset autoimmune hepatitis is associated with a C4A gene deletion ... There are many other gene-alleles within the haplotype, including more than 250 coding loci that produce transcripts. ... "Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human ... this includes 3 class I genes, the class III gene region, and 2 class II genes.[40] Research published in October 2015 by the ...
Frizzle feather was found to stem from a deletion in the genomic region coding for α-Keratin. This gene seems to ... Therefore mutation in a pleiotropic gene may have an effect on several traits simultaneously due to the gene coding for a ... Pleiotropy in genes has been linked between certain psychiatric disorders as well. Deletion in the 22q11.2 region of chromosome ... The underlying mechanism is genes that code for a product that is either used by various cells or has a cascade-like signaling ...
RNA probes can be designed for any gene or any sequence within a gene for visualization of mRNA,[3][4][5] lncRNA[6][7][8] and ... Examples of diseases that are diagnosed using FISH include Prader-Willi syndrome, Angelman syndrome, 22q13 deletion syndrome, ... Then an oligonucleotide complementary to the suspected pathogen's genetic code is synthesized and chemically tagged with a ... Repetitive DNA sequences must be blocked by adding short fragments of DNA to the sample. The probe is then applied to the ...
Expressed sequence tag, Marcador de secuencia expresada), SAGE (Serial Analysis of Gene Expression, Análise en serie da ... "The genetic code" (PDF). Nobel Lecture (en inglés). Arquivado dende o orixinal (pdf) o 09 de xaneiro de 2009 ... "Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data". Bioinformatics 21 (19). ... C. elegans Sequencing Consortium (1998). "Genome sequence of the nematode C. elegans: a platform for investigating biology". ...
If a repressive miRNA is silenced by hypermethylation or deletion, then a gene it is targeting becomes over-expressed. ... RAD51 catalyses strand transfer between a broken sequence and its undamaged homologue to allow re-synthesis of the damaged ... RAD51 is a eukaryotic gene. The enzyme encoded by this gene is a member of the RAD51 protein family which assists in repair of ... Many cancers have epigenetic deficiencies in various DNA repair genes (see Frequencies of epimutations in DNA repair genes in ...
... see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely ... DEL16p13.3, RSTSS: Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion syndrome). *DHX38: DEAH-box helicase 38 ... Genes[edit]. Number of genes[edit]. The following are some of the gene count estimates of human chromosome 16. Because ... So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[5] ...
DNA promoter sequences in Drosophila, mammalian, and viral genes.[8][2] The TATA box was found in protein coding genes ... Insertions or deletions[edit]. One of the first studies of TATA box mutations looked at a sequence of DNA from Agrobacterium ... of yeast genes even contained the TATA sequence.[12] Similarly, in humans only 24% of genes have promoter regions containing ... Based on the sequence and mechanism of TATA box initiation, mutations such as insertions, deletions, and point mutations to ...
... the small subset of protein-coding genes within the much larger genome-now a mainstay of identifying genetic mutations in ... deep sequencing; single-cell sequencing and analytics; chromatin dynamics; structural biology; advanced proteomics; mass ... In 2004, Wigler and Jonathan Sebat discover that enhancements and deletions of genetic material called copy number variations ... In 1988 Ed Harlow demonstrates that cancer-causing and cancer-preventing genes (oncogenes and tumor-suppressor genes) interact; ...
... no mutations were found in the VP1 coding region, however, a 143 base-pair deletion was identified in the agnogene, coding for ... Marshall, Leslie J.; Dunham, Lisa; Major, Eugene O. (December 2010). "Transcription factor Spi-B binds unique sequences present ... *^ Major, Eugene O; Yousry, Tarek A; Clifford, David B (May 2018 ... A map of the genome of JC virus, indicating the position of the tumor antigen genes (red), the three capsid protein genes ( ...
De novo origination of a new protein-coding gene in Saccharomyces cerevisiae. Genetics. 2008, 179 (1): 487-496. PMC 2390625. ... DNA序列裡面可以發現許多不斷重複的序列。其分佈連續在一起的是局部分佈的重複序列(localized repeated sequences)串聯重複序列(tandem repeat),可再依單元序列的長短分為衛星序列(satellite)、小衛星序列
இதில் 7 ஆவது குறியீடு செய்யப்பட்ட மரபணுக் கோர்வை மிகவும் பெரியதாகவும், பெரும்பாலான குறியாக்க வரிசை (coding sequence) களைக் ... "The maximum frequency of the B gene occurs in Central Asia and northern India. The B gene was probably absent from American ... O மாற்றுருவை பொறுத்த வரை 6 ஆவது குறியீடு செய்யப்பட்ட மரபணுக் கோர்வை ஒற்றை நியூக்ளியோடைட்டு நீக்கம் (single nucleotide deletion ... coding regoins of a gene) கொண்டுள்ளது, பின்னர் இது ஒரு ஃப்யூகோசில்ட்ரான்ஸ்ஃபெராசே (fucosyltransferase) வை குறியாக்கம் செய்து, ...
"Sequencing Uncovers a 9,000 Mile Walkabout" (pdf). ICommunity Newsletter. April 2012.. *. Sharma, Kriti (9 August 2018). "The ... The panel's recommendations, reported to the federal government in January 2012,[116] included deletion of provisions of the ... "Ethnologue report for language code: ulk". Retrieved 9 August 2009.. ... Papuan and Mamanwa peoples carry some of the genes associated with the Denisovan peoples of Asia, (not found amongst ...
Deep-sequencing technologies can identify mutations within the protein-coding part of the genome (the exome) and predict ... However, the vast majority of mutations within expressed genes do not produce neoantigens that are recognized by autologous T ... The false-negative rate of cancer exome sequencing is low-i.e.: the majority of neoantigens occur within exonic sequence with ... In mice models, for all novel protein sequences, potential MHC-binding peptides were predicted. The resulting set of potential ...
A gene called c9orf72 was found to have a hexanucleotide repeat in the non-coding region of the gene in association with ALS ... Zhang W, Tian Z, Sha S, Cheng LY, Philipsen S, Tan-Un KC (2011). "Functional and sequence analysis of human neuroglobin gene ... Most SMA patients have either point mutations or a deletion in exon 7 often leading to a protein product similar to the ... The SOD1 gene on chromosome 21 that codes for the superoxide dismutase protein is associated with 2% of cases and is believed ...
As the gene FYN codes for the enzyme Fyn, FYN-knockout mice display neither excitotoxic events nor dendritic spine shrinkage ... The primary sequence of PrP is 253 amino acids long before post-translational modification. Signal sequences in the amino- and ... When Aβ oligomers were injected into the cerebral ventricles of a mouse model of Alzheimer's, PRNP deletion did not offer ... List of PDB id codes. 1E1G, 1E1J, 1E1P, 1E1S, 1E1U, 1E1W, 1FKC, 1FO7, 1H0L, 1HJM, 1HJN, 1I4M, 1OEH, 1OEI, 1QLX, 1QLZ, 1QM0, ...
Epigenetic changes modify the activation of certain genes, but not the genetic code sequence of DNA. The microstructure (not ... These are normal genetic diseases caused by gene deletions or inactivation of the genes, but are unusually common because ... of human protein coding genes are regulated by miRNAs.[68] Many miRNAs are epigenetically regulated. About 50% of miRNA genes ... each of which alters how genes are expressed without altering the underlying DNA sequence. Gene expression can be controlled ...
For instance, one can start with the gene for a protein that binds a certain sequence of DNA, and, by directing an unnatural ... according to the genetic code. Aminoacyl tRNA therefore plays an important role in RNA translation, the expression of genes to ... Ludmerer SW, Schimmel P (August 1987). "Construction and analysis of deletions in the amino-terminal extension of glutamine ... TARS (gene). References[edit]. *^ McClain WH (November 1993). "Rules that govern tRNA identity in protein synthesis". Journal ...
Deletion/duplication analysis identifies mutations in the TWIST1 gene that are not readily detected by sequence analysis. ... deletion/duplication analysis, and cytogenetics/ FISH analysis. Sequence analysis of exon 1 (TWIST1 coding region) provides a ... which contains the region that codes for the TWIST gene. In searching for the gene responsible for SCS, scientists at Johns ... If a parent carries a copy of the SCS gene mutation, then there is a 50% chance their child will also carry a copy of the gene ...
DNA sequencing is used to directly analyze the genomic DNA sequence of a particular gene. In general, only the parts of the ... gene that code for the expressed protein (exons) and small amounts of the flanking untranslated regions and introns are ... This test was routinely used to detect deletions or duplications in conditions such as Duchenne muscular dystrophy but is being ... 2004). "A high-density admixture map for disease gene discovery in African Americans". Am J Hum Genet. 74: 1001-1013.. ...
The template below (Library resources box) is being considered for deletion. See templates for discussion to help reach a ... For females, possible benefits of extra-pair copulation include getting better genes for her offspring and insuring against the ... the CODE hypothesis, and social monogamy". American Zoologist. 38 (1): 207-25. doi:10.1093/icb/38.1.207.. ... "Diversification of Neoaves: integration of molecular sequence data and fossils" (PDF). Biology Letters. 2 (4): 543-547. PMC ...
"Entrez Gene: MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1".. *^ a b c d e f Yasuda, J; Whitmarsh A J; ... List of PDB id codes. 2G01, 2GMX, 2H96, 3OXI, 3PTG, 3VUD, 3VUG, 3VUH, 3VUI, 3VUK, 3VUL, 3VUM, 4E73, 4G1W, 4H39, 4HYS, 4HYU, ... The template below (PDB Gallery) is being considered for deletion. See templates for discussion to help reach a consensus. › ... "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353-8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174 ...
The gene promoter region of ALOX5 contains 8 GC boxes but lacks TATA boxes or CAT boxes and thus resembles the gene promoters ... Variant alleles involved deletions (one or two) or additions (one, two, or three) of Sp1 motifs to the five tandem motifs ... "Molecular cloning and amino acid sequence of human 5-lipoxygenase". Proc. Natl. Acad. Sci. U.S.A. 85 (1): 26-30. doi:10.1073/ ... "The resolution code of acute inflammation: Novel pro-resolving lipid mediators in resolution". Seminars in Immunology. 27 (3 ...
"Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene". Human Genetics. 103 (4): 415-8. ... "Complete cDNA sequence of human complement Cls and close physical linkage of the homologous genes Cls and Clr". Biochemistry. ... List of PDB id codes. 1ELV, 1NZI, 4J1Y, 4LMF, 4LOR, 4LOS, 4LOT ... This article on a gene on human chromosome 12 is a stub. You ... C1s is part of the C1 complex.[5][6][7][8] In humans, it is encoded by the C1S gene.[9] ...
... sequences which code for proteins, and the complementary "antisense" sequence which is by itself nonfunctional, but can bind to ... see Sequence analysis below), be digitally altered and be used as templates for creating new actual DNA using artificial gene ... mismatches can be interpreted as point mutations and gaps as insertion or deletion mutations (indels) introduced in one or both ... Sequence entropyEdit. Main article: Sequence entropy. In Bioinformatics, a sequence entropy, also known as sequence complexity ...
In Escherichia coli, 5S rRNA gene deletions reduce the protein synthesis rate and have a more profound detrimental effect on ... The IUPAC code letters and circles indicate conserved nucleotides and positions with variable nucleotide identity, respectively ... In the fungal mitochondrial ribosomes, 5S rRNA is replaced by LSU rRNA expansion sequences.[23] In kinetoplastids (euglenozoans ... "5S rRNA gene deletions cause an unexpectedly high fitness loss in Escherichia coli". Nucleic Acids Research. 27 (2): 637-42. ...
... especially if they occur within the protein coding sequence of a gene. Error rates are usually very low-1 error in every 10-100 ... These errors create large structural changes in DNA sequence - duplications, inversions, deletions of entire regions - or the ... This process begins with the production of an RNA molecule with a sequence matching the gene's DNA sequence, a process called ... Gene regulationEdit. Main article: Regulation of gene expression. The genome of a given organism contains thousands of genes, ...
This insertion/deletion (ins/del) is likely favored by the repetition, at an interval of 16 nucleotides, of an eight nucleotide ... A possible explanation could be that the additional sequence is located in the C to E interhelical region, and is less ... the sequence Ser-Ala-Gln-Val-Lys-Gly-His-Gly located from positions a52(E1) to a59(E8) is deleted, while in Hb Choisy the same ... found on the a1 gene, which is the exact counterpart of a previously published deletional variant, Hb J-Biskra [codons 51-58 ( ...
Identification of Sequence Mutations in the Yeast Gene-Deletion Bar Codes. The fidelity of yeast gene-deletion strain ... These files list all of the information pertaining to the ... Schematic diagram of the yeast gene-deletion cassette sequencing strategy. Amplification of molecular bar-code-containing DNA ... of the yeast gene-deletion tags but also reveal the robustness of the yeast gene-deletion dual oligonucleotide bar-code design ...
Plasmids for gene deletions: The plasmids for clean deletions were constructed by amplifying 500-bp fragments located upstream ... Plasmids for xylose induction of PepF: The pepF coding sequence, including its native transcription terminator, was amplified ... Mutant reporter strains: Deletions of indicated genes (kinA, kinB, spo0B, oppA, and pepF) were made in the FRET reporter strain ... 4b). Deletion of the pepF gene, an intracellular peptidase that is known to be capable of degrading PhrA when overexpressed38, ...
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet. 1997;15:106 ... variants Protective variants Parent-origin Epigenetics Gene expression Gene-gene interactions Epistasis Non-coding RNA Gene- ... RNA sequencing of single human islet cells reveals type 2 diabetes genes. Cell Metab. 2016;24(4):608-15.PubMedCrossRefGoogle ... Next generation sequencing (NGS) Whole genome sequencing (WGS) Whole exome sequencing (WES) Rare ...
C Sequence analysis of the entire coding region. Axenfeld-Rieger Syndrome Type 3 , Deletions-Duplications (MLPA) FOXC1 Gene ... nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome. Courtagen Diagnostics Laboratory Courtagen Life ... Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel. EGL Genetic Diagnostics Eurofins ...
... coding sequences were replaced with the TRP1, LEU2, and HIS3 genes, respectively. The various constructs were transformed as ... Construction of Chromosomal Deletions and Tagged Proteins. The genes for Nfu1, Isu1, and Isu2 were amplified from chromosomal ... A more detailed analysis is required to separate the direct effects of the deletion of NFU1 and ISU genes, from indirect ... Sequence comparisons of Nfu1, Isu1, and Isu2. (A) Alignment of the amino acid sequence (155-245) of Nfu1 (gp:x69584) from S. ...
Here we used CrispR-Cas9-mediated gene editing to delete the gene encoding for AC, ASAH1, in human A375 melanoma cells. ASAH1- ... In its standard application, this technique disrupts coding sequences by targeting one critical site in a gene of interest27. ... CrispR/Cas9 deletion of the ASAH1 gene. We used the CrispR/Cas9 system to delete the ASAH1 gene in A375 melanoma cells. ... Deletion of the ASAH1 gene in A375 melanoma cells. (A) Schematic structure of the ASAH1 gene. Red bars indicate gRNA ...
For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/ ... By Gene. DNA testing services are listed below. Click on a test for a brief description with a link to a detailed assay summary ... Mutation and selected copy number analysis of 49 genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ... Analysis of fusions involving 53 genes commonly rearranged in solid tumors: AKT3, ALK, ARHGAP26, AXL, BRAF, BRD3, BRD4, EGFR, ...
... to PAX6 and one within a gene desert 5ʹ (telomeric) to PITX2. Sequence analysis of the FOXC1 and PITX2 coding regions ... Six deletions with plausible cis-regulatory effects were identified: five that were 3ʹ (telomeric) ... In the other individuals with Gillespie syndrome no mutations were identified in either of these genes, or in HCCS which lies ... Fourteen of these mutations presented in the known aniridia genes; PAX6, FOXC1 and PITX2. The large number of individuals in ...
Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain ... Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Murakami T, et al. Genomics, ... Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side ... Gene type. protein coding. RefSeq status. VALIDATED. Organism. Homo sapiens Lineage. Eukaryota; Metazoa; Chordata; Craniata; ...
We disrupted the murine Hjv gene through targeted deletion of most of the coding sequence. We found that Hjv-/- mice rapidly ... Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3 ... Hereditary hemochromatosis disorders result from mutations in genes coding for proteins that regulate iron homeostasis ( ... This knockout strategy deletes most of the sequence coding for the Hjv protein. We identified correctly targeted clones by ...
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet 1997. 15:106 ... Direct sequencing. The 2 exons and flanking introns of the IPF-1 gene were amplified by PCR from genomic DNA. Exon 1 was ... Mutations in the coding region of the insulin promoter factor 1 gene are not a common cause of maturity-onset diabetes of the ... Mutations identified in the IPF-1 gene.. In the initial direct sequencing of subjects with young-onset type 2 diabetes and MODY ...
The entire Agr gene and some flanking region were sequenced, and the tran … ... The Agr gene of Drosophila melanogaster was localized to the X chromosome 12F region between the Netrin B and rutabaga genes. A ... The gene was 938 bp in length and included a 108 bp intron, dividing the coding region into a 140 bp 5 exon and a 690 bp 3 ... Deletion of the Agr gene had no effect on proventricular morphogenesis in embryos. The Agr expression pattern within the ...
The sae2 deletion was made by replacing the coding sequence with the ClonNAT resistance gene (natMX). Gene disruption was ... The bas1 and ino4 deletions were made by replacing the coding sequence with the hygromycin B phosphotransferase gene (hphMX4). ... 56 genes, 9.9%), and meiotic cell cycle process (68 genes, 12.1%). Ino4-regulated genes were enriched for GO terms lipid ... Bas1-regulated genes were enriched for Gene Ontology (GO) terms purine nucleotide metabolic process (31 of 563 genes, 5.5%), ...
... elements in unique positions that did not disrupt the coding sequence. Genetic mutations (partial gene deletion, missing genes ... Additionally, DNA sequences from mitochondrial cytochrome-b gene and genotyping of 6 nuclear microsatellite loci were examined ... Serotype 1-specific genes were predominantly detected. In five oropharyngeal samples tested, serotype 1 gene belonging to S. ... Using RNA-Seq-guided gene predictions, we find that most mating and meiosis genes are conserved and that clades contain either ...
... elements in unique positions that did not disrupt the coding sequence. Genetic mutations (partial gene deletion, missing genes ... Data were coded and analyzed using NVivo version 10. RESULTS: Delay 1: Participants were receptive to SMGLs messages related ... Whole-genome sequencing for characterization of capsule locus and prediction of serogroup of invasive meningococcal isolates ... We present a transmission tree and results of whole genome sequencing of selected isolates to identify the source of infection ...
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet 1997;15:106- ... The MafA protein coding sequence is only present within exon 1 (19), while deletion of exon 8 causes a frame shift that ... 3A). The effect of these conditions on expression of β-cell genes bound by MafA and downregulated in pancreas-specific deletion ... and MAFB-regulated genes in human and rodent β-cell lines, with evidence provided that this results from limiting gene ...
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat. Genet. 15, 106- ... Ablation of Notch target genes such as Dll1 (Hrabe de Angelis et al., 1997), Rbp-jk (Fujikura et al., 2006), or Hes1 (Jensen et ... 2008). Reduction of Ptf1a gene dosage causes pancreatic hypoplasia and diabetes in mice. Diabetes Metab. Res. Rev. 57, 2421- ... Kobberup, S., Nyeng, P., Juhl, K., Hutton, J., and Jensen, J. (2007). ETS-family genes in pancreatic development. Dev. Dyn. 236 ...
One of the mechanisms of programming is the epigenetic modification of gene promoters involved in the control of key metabolic ... One of the mechanisms of programming is the epigenetic modification of gene promoters involved in the control of key metabolic ... Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat. Genet. 15, 106- ... Intergenic sequences may represent important regulatory sites influencing local gene expression. This epigenomic dysregulation ...
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet 1997;15:106- ... NEUROG3 gene analysis.. The single coding exon of NEUROG3 was PCR-amplified in three overlapping fragments, sequenced on an ABI ... Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. JOP 2010;11:14-17pmid: ... Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the ...
... markerless gene deletion in Chlamydia trachomatis using floxed cassette allelic... ... The resulting strains contain markerless gene deletions of one or more coding sequences. This technique facilitates direct ... FLAEM enables reverse-genetic approaches with targeted deletion of entire coding sequences, compared to other genetic methods ... Targeted gene deletion is achieved through allelic exchange of the gene for the selection cassette. The 3 kb regions directly ...
The SRB2 gene was isolated and mapped, and an SRB2 partial deletion mutation (srb2 delta 10) was constructed. The srb2 delta 10 ... Most intragenic mutations enlarge the repeat domain by duplicating various portions of the repeat coding sequence. Other ... We propose that the SRB2 gene encodes a factor that is involved in RNA synthesis and may interact with the CTR domain of the ... The largest subunit of RNA polymerase II contains a repeated heptapeptide sequence at its carboxy terminus. Yeast mutants with ...
B) gata2a coding and amino acid sequence in the region of the um27 deletion. ZFN recognition sequences are boxed. (C) Genotype ... A) Location of frameshift caused by the um27 deletion in the zebrafish gata2a gene. ZF, zinc-finger domain. ( ... B) Sequence logos for ZFP monomers recognizing GAG in each finger position. (C) Sequence logos for ZFPs containing TTG modules ... Circle indicates the link to the page shown in B. (B) List of targets in the fgf24 gene with associated information. Circled ...
B: Northern blot of mouse kidney probed with the mouse UT-B coding sequence. C: immunoblot of mouse kidney inner medulla with ... A: targeting strategy for UT-B gene deletion. Rectangles indicate exon segments. Homologous recombination results in ... The human UT-B gene (gene name Slc14a1) contains 10 exons (gene ID 6563). The translation start codon ATG is located in exon 3 ... The rat UT-B gene contains nine exons (gene ID 54301). Its translation start codon is in exon 6. In the mouse, this gene is ...
... of mammalian genomes not corresponding to protein coding sequences remains largely undetermined. Here we show that some large- ... scale deletions of the non-coding DNA referred to as gene deserts can be well tolerated by an organism. We deleted two large ... Here we show that some large-scale deletions of the non-coding DNA referred to as gene deserts can be well tolerated by an ... Megabase deletions of gene deserts result in viable mice Nature. 2004 Oct 21;431(7011):988-93. doi: 10.1038/nature03022. ...
With PCR sequencing of the entire coding and putative promoter regions of SLC4A11, there were, however, some clinically ... To identify the genetic defects, we first performed PCR sequencing covering the entire coding region of SLC4A11. A novel c.778A ... Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy ... Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy ...
1997). "Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence". Nat. Genet. ... 2002). "Conserved sequences in a tissue-specific regulatory region of the pdx-1 gene mediate transcription in Pancreatic beta ... July 2017). "Genome sequence of a diabetes-prone rodent reveals a mutation hotspot around the ParaHox gene cluster". ... Despite the gene name being Pdx1, there is no Pdx2 gene in most animals; single-copy Pdx1 orthologs have been identified in all ...
The DAF1-1 mutation consisted of a termination codon two-thirds of the way through the daf1+ coding sequence. A chromosomal ... deletion of DAF1 produced by gene transplacement increased cell volume about 1.5-fold; thus, DAF1-1 may be a hyperactive or ... DAF1, a mutant gene affecting size control, pheromone arrest, and cell cycle kinetics of Saccharomyces cerevisiae.. F R Cross ... DAF1, a mutant gene affecting size control, pheromone arrest, and cell cycle kinetics of Saccharomyces cerevisiae. ...
Protein Coding), Transmembrane Protein 200C, including: function, proteins, disorders, pathways, orthologs, and expression. ... coding_sequence_variant, inframe_deletion. rs1000565051. --. 5,890,568(-). G/A. coding_sequence_variant, missense_variant. ... Summaries for TMEM200C Gene GeneCards Summary for TMEM200C Gene TMEM200C (Transmembrane Protein 200C) is a Protein Coding gene ... Evolution for TMEM200C Gene. ENSEMBL:. Gene Tree for TMEM200C (if available). TreeFam:. Gene Tree for TMEM200C (if available). ...
Consequently, we found only two such deletions among the thousands that we have searched, one of them being the GSTM1 deletion ... We demonstrated that the GSTM gene family has evolved through multiple structural variations, involving gene duplications, ... have been evolving rapidly through gene duplication and deletion events in primates, leading to complex structural variation ... through independent deletion events. To generalize our results, we searched for genic deletions that are polymorphic in both ...
  • Finally, the deletion cassette was integrated into the yeast chromosome by homologous recombination. (
  • The Agr gene of Drosophila melanogaster was localized to the X chromosome 12F region between the Netrin B and rutabaga genes. (
  • that the Wnt1-cre transgene integrated into chromosome 11 causing a 31,283 bp deletion in the H2afv locus. (
  • Chromosome 17-specific aCGH was used to locate deletion breakpoints in regions flanking the BRCA1 gene. (
  • CDKN1C is a tumor suppressor human gene on chromosome 11 (11p15) and belongs to the cip/kip gene family. (
  • CONTEXT: Glioblastomas--uniformly fatal brain tumors--often have both monosomy of chromosome 10 and gains of the epidermal growth factor receptor (EGFR) gene locus on chromosome 7, an association for which the mechanism is poorly understood. (
  • CONCLUSION: Haploinsufficiency of the tumor suppressor ANXA7 due to monosomy of chromosome 10 provides a clinically relevant mechanism to augment EGFR signaling in glioblastomas beyond that resulting from amplification of the EGFR gene. (
  • FISH mapping in an individual with Gillespie-like syndrome with an apparently balanced X;11 reciprocal translocation revealed disruption of a gene at each breakpoint: ARHGAP6 on the X chromosome and PHF21A on chromosome 11. (
  • Contour-clamped homogeneous electric field blot analysis suggested that these two genes are on the same chromosome. (
  • To avoid the introduction of a complete plasmid and duplication of the target sequence in the chromosome, other strategies were described. (
  • Briefly, the in vitro altered sequences carried on the vector pK03 are integrated into the chromosome by using the sucrose-resistant phenotype, and the sucrose-resistant and chloramphenicol-sensitive colonies are screened for the desired gene replacement ( 15 ). (
  • For many genes, deletion/duplication analysis is also available. (
  • Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. (
  • Overall, our results support the emerging notion that metabolizing gene families, such as the GSTM, NAT, UGT and CYP , have been evolving rapidly through gene duplication and deletion events in primates, leading to complex structural variation within and among species with unknown evolutionary consequences. (
  • A female and a male sibling from two unrelated Greek-Cypriot families presenting with a severe salt-wasting tubulopathy dueto compound heterozygous mutations of a novel duplication and a previously reported missense mutation in the SLC12A gene are described. (
  • All the genes forming these fusion transcripts may have an important role in central nervous system development and/or in gene expression regulation, and therefore not only their deletion or duplication but also the resulting chimeric gene may contribute to the phenotype of the patients. (
  • citation needed] Isozymes are usually the result of gene duplication, but can also arise from polyploidisation or nucleic acid hybridization. (
  • Deletion/ Duplication analysis for HBA1 and HBA2 can be ordered using this test code. (
  • Evolutionists have often claimed that gene duplication provides the raw material to produce new functions through subsequent mutation and natural selection. (
  • They also take as many different forms as there are organisms that have them, and many are believed to have evolved via gene duplication events. (
  • However, postulating that gene duplication and subsequent mutation can result in new functional proteins is not enough. (
  • Researchers have recently posited a detailed evolutionary scenario for the evolution of an antifreeze protein from such a gene duplication event in a species of Antarctic eelpout (ray-finned fish), Lycodichthys dearborni . (
  • EAC states that conflict between an old and an emerging new function within a single gene could preserve a gene duplication, which would allow each duplicate to freely optimize one of the functions. (
  • Two other yeast genes were found to encode proteins related to the N-terminal domain of bacterial NifU. (
  • From the available genome sequences, it is now clear that many organisms, both nitrogen-fixing and non-nitrogen-fixing, possess ORFs that encode for proteins with homology to the individual domains of NifU. (
  • The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (
  • The genes encoding the neurotoxin and its accessory proteins form two operons whose expression is induced by CntR (BotR), an alternative sigma factor ( 5 ). (
  • We identified 38 deletion strains displaying strongly increased susceptibility to caspofungin, 28 of which encoding proteins that have not previously been linked to echinocandin tolerance. (
  • A conserved amino acid sequence of F3′H proteins, GGEK, was found in the deduced polypeptide. (
  • Alternatively, a chimeric gene may also be pathogenic by different gain-of-function mechanisms that are not restricted to dose-sensitive genes: the emergence of a new polypeptide that combines functional domains from two different genes, the deregulated expression of any coding sequence by the promoter region of a neighboring gene, and/or a putative dominant-negative effect due to the preservation of functional domains of partially truncated proteins. (
  • The new fusion protein might be pathogenic due to different mechanisms: the emergence of a new polypeptide that combines functional domains from two different genes, the deregulated expression of any coding sequence by the promoter region of a neighboring gene and/or a putative dominant-negative effect due to the preservation of functional domains of partially truncated proteins. (
  • For many years, proteins were considered the master regulators of gene expression, and RNA was seen only as the "intermediate" between the genetic code DNA, and proteins, the functional moieties of the cell. (
  • Mutations are a prerequisite for tumor development, often found in cell signaling proteins as a result of deletions/point mutations in gene-coding regions or in promoter-enhancer sequences, DNA insertions, copy-number variations, and chromosomal translocations. (
  • Over the last century, knowledge of the genetics, functions, and diseases of the hemoglobin proteins has been refined to the molecular level by analyses of their crystallographic structures and by cloning and sequencing of their genes and surrounding DNA. (
  • This review attempts to highlight some recent developments in hemoglobin research most relevant to the hematologist in the context of the current understanding of the functions of these proteins and their genes. (
  • The SRB2 gene was isolated and mapped, and an SRB2 partial deletion mutation (srb2 delta 10) was constructed. (
  • The DAF1-1 mutation consisted of a termination codon two-thirds of the way through the daf1+ coding sequence. (
  • In a considerable number of patients with typical FMF, only one MEFV mutation was identified and the possibility that more than one autoinflammatory gene may be responsible for their disease was investigated. (
  • In total, three patients were identified with heterozygous mutations and a second mutation in an autoinflammatory gene. (
  • The results from this study indicate that screening of genes known to cause HRFs in patients already identified with a single MEFV mutation, can reveal quite rare but potentially causative mutational combinations at different loci. (
  • A mutation of this gene may lead to loss of control over the cell cycle leading to uncontrolled cellular proliferation. (
  • If the mutation occurs in a gene, it can alter the amino acid sequence coded. (
  • If the mutation occurs within a non-coding gene promoter region, it can result in increased or decreased levels of protein expression. (
  • The heterozygous loss of ANXA7 in approximately 75% of glioblastomas in the The Cancer Genome Atlas plus infrequency of ANXA7 mutation (approximately 6% of tumors) indicates its role as a haploinsufficiency gene. (
  • Our objectives were to characterize in more detail the mutation spectrum associated with Dravet syndrome by screening a large series of 333 patients using both direct sequencing and Multiplex Ligation-dependent probe Amplification (MLPA). (
  • Missense mutations i) altering a highly conserved amino-acid of the protein, ii) transforming this conserved residue into a chemically dissimilar amino-acid and/or iii) belonging to ion transport sequences were the most frequent mutation type. (
  • This mutation spectrum including whole gene deletions argues in favor of haploinsufficiency as the main mechanism responsible for Dravet syndrome. (
  • In addition, the glycine residue in the center of the gene is important for CAP59 function, because a missense mutation at the Gly324 residue abolished complementation by the GAL7 fusion construct ( 8 ). (
  • There appears to be one random mutation that enabled the copy of LdSAS-B to translate a protein that ended up being an effective AFP: a 4.4 kb deletion coding for the SAS N-terminal domain from codon 7 of E1 (exon 1) to the end of E5 (exon 5). (
  • I suggest the large deletion mutation in the putative LdSAS-B copy produced both the increased ice-binding capabilities and enabled the putative AFP to be secreted out of the cell. (
  • One is where a frameshift mutation occurs in the coding sequence and transcription slippage at a nearby site permits synthesis of a proportion of mRNAs in which a non-templated nucleotide(s) compensates for this mutation, thereby restoring the original framing. (
  • Further, the mutation was found to affect 13 of the 25 cell cycle-related genes as they showed differential expression with respect to N22. (
  • Sequencing of 88 rice germplasm lines in the kinesin motor domain region did not reveal the presence of this mutation, establishing it as a new variant of SRS3 gene. (
  • Multiple sequence alignment of 88 rice accessions for the mutation site showing the absence of mutant allele in all the germplasm studied. (
  • This triple mutant strain carries a humanized ApoE knock-in mutation (sequence coding for isoform E4), a CRISPR/cas9-generated 94bp deletion in exon 14 of the App gene and a CRISPR/cas9-generated R47H point mutation of the Trem2 gene. (
  • and a knock-in of a point mutation into mouse Trem2 , triggering receptor expressed on myeloid cells 2, gene containing a R47H point mutation, with two silent mutations. (
  • Mice expressing the Trem2 R47H mutation also express a novel splice variant with a deletion of 119bp at the 5' end of exon 2, due to a cryptic splice acceptor site in exon 2 (see Stock No. 027918 ). (
  • MLPA was able to detect a large deletion that includes the entire coding sequence of CYP1B1 in 1/32 of MEEI PCG probands who previously tested negative for a CYP1B1 mutation. (
  • MLPA should be used to exclude large deletions of CYP1B1 as the causative mutation in congenital glaucoma patients. (
  • We investigated the effect of the 7-bp deletion in exon 1 of HvGA20ox2 gene ( sdw1.d mutation) on the variation of yield-related and malting quality traits in the population of DHLs derived from cross of medium tall barley Morex and semi-dwarf barley Barke. (
  • The 15523-bp SHOX intragenic deletion, encompassing exons 3-6, was initially detected by array-CGH, followed by MLPA analysis. (
  • Five alterations (deletion of exons 1-17, 5-10, 13-19, 18-22 and 21-24) were novel. (
  • Deletions of exons 1-17, 5-14 and 21-22 were identified repeatedly, and represented population specific (founder) mutations. (
  • Deletions spanning exons 21-34 of ULK4 were present in 4 out of 3391 schizophrenia patients from the International Schizophrenia Consortium, but absent in 3181 controls. (
  • Deletions removing exons 33 and 34 of the large splice variant of ULK4 also were enriched in Icelandic schizophrenia and bipolar patients compared with 98,022 controls ( P = 0.0007 for schizophrenia plus bipolar disorder). (
  • The App-201 isoform (695 aa protein) is encoded by 16 exons, of which the Abeta sequence is encoded by exon 14. (
  • The App-206 isoform (770 aa protein) is encoded by 18 exons, of which the Abeta sequence is encoded by exon 16. (
  • A targeting vector containing a 3' FRT flanked neo cassette was used to replace exons 2, 3 and most of exon 4 with 1.5 kb of human APOE gene sequence including exons 2, 3 and 4 (and some 3' UTR sequence). (
  • MLPA analysis showed deletion of both exons in the CYP1B1 gene in 1 out of the 32 (3%) probands in the MEEI collection of congenital glaucoma families. (
  • Our analyses indicate that RNA sequencing appears more reliable for transcripts with low expression levels, that most transcripts correspond to known genes or are near known genes, and that many transcripts may represent new exons or aberrant products of the transcription process. (
  • Yeast mutants with certain partial deletions of the carboxy-terminal repeat (CTR) domain are temperature-sensitive, cold-sensitive and are inositol auxotrophs. (
  • Intragenic and extragenic suppressors of the cold-sensitive phenotype of CTR domain deletion mutants were isolated and studied to investigate the function of this domain. (
  • Two types of intragenic suppressing mutations suppress the temperature-sensitivity, cold-sensitivity and inositol auxotrophy of CTR domain deletion mutants. (
  • We have generated a novel large-scale collection encompassing 619 bar-coded C. glabrata mutants, each lacking a single gene. (
  • printf ( ' \n Specifically, it's intended for use with deletion mutants. (
  • D. helianthi DhPKS1 deleted mutants were less virulent to sunflower compared to the wild type, indicating a role for this gene in the pathogenesis of the fungus. (
  • To assess the importance of this structure during human infection, we constructed PEA transferase ( lptA ) deletion mutants of N. gonorrhoeae strain FA1090, which cannot add PEA to lipid A, and tested FA1090 Δ lptA in competitive infections with isogenic lptA + gonococci in the female murine lower genital tract and the human male urethra. (
  • We systematically constructed a nearly complete collection of gene-deletion mutants (96% of annotated open reading frames, or ORFs) of the yeast Saccharomyces cerevisiae. (
  • Recently, we complemented two previously identified acapsular mutants and cloned two genes, CAP59 and CAP64 ( 6 , 7 ). (
  • A shuttle vector designated pMAD was constructed for quickly generating gene inactivation mutants in naturally nontransformable gram-positive bacteria. (
  • The plasmid was used in Staphylococcus aureus , Listeria monocytogenes , and Bacillus cereus to efficiently construct mutants with or without an associated antibiotic resistance gene. (
  • The functional importance of the roughly 98% of mammalian genomes not corresponding to protein coding sequences remains largely undetermined. (
  • Putative functions listed below each of the yih genes (NP462896-905) were delineated by comparing Yih sequences to protein sequences encoded in sequenced genomes from the NCBI database. (
  • Comparative sequence analysis of these genomes was used to identify occurrences of 9A and 9T transcriptional slippage-prone sequences used for gene expression. (
  • The genomes of closely related species have revealed very few genes added from non-coding DNA, and all of the structural RNA we've found has very specific sequence requirements. (
  • In a synthetic lethal screen with the mitochondrial heat shock protein (HSP)70, SSQ1 , we identified a gene of Saccharomyces cerevisiae , NFU1 , which encodes a protein with sequence identity to the C-terminal domain of NifU. (
  • We propose that the SRB2 gene encodes a factor that is involved in RNA synthesis and may interact with the CTR domain of the large subunit of RNA polymerase II. (
  • The VGF gene encodes the vaccinia growth factor, a secreted protein produced early in viral infection that acts as a mitogen to prime surrounding cells for subsequent viral infection. (
  • This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. (
  • This gene encodes a large protein that contains a helix-loop-helix domain and a polyglutamine region. (
  • Bacterial toxin-antitoxin loci consist of two genes: one encodes a potentially toxic protein, and the second, an antitoxin to repress its function or expression. (
  • The pim1 gene encodes the guanine nucleotide exchange factor (GEF) for the Spi1p GTPase, a member of the evolutionarily conserved family of Ran GTPases. (
  • The targeted Apoe gene encodes apolipoprotein E, which is important in lipoprotein metabolism and cardiovascular disease as well as Alzheimer's disease, immunoregulation and cognition. (
  • The targeted App gene encodes amyloid beta precursor protein, a transmembrane cell surface receptor that is cleaved by secretases. (
  • The targeted Trem2 gene encodes a protein that is part of a receptor signaling complex with TYRO protein tyrosine kinase binding protein, and that activates macrophages and dendritic cells during immune responses. (
  • This gene encodes the α2B subtype, which was observed to associate with eIF-2B, a guanine nucleotide exchange protein that functions in regulation of translation. (
  • The robust performance of the yeast gene-deletion dual oligonucleotide bar-code design in array hybridization validates the use of molecular bar codes in living cells for tracking their growth phenotype. (
  • 1998 ) -cell-specific inactivation of the mouse Ipf1/Pdx1 gene results in loss of the beta-cell phenotype and maturity onset diabetes. (
  • In the present study, an extensive search for possiblemutations in three hereditary recurrent fever (HRF) genes was performed in 128 MEFV heterozygous Greek-Cypriots clinically diagnosed based on their phenotype with FMF-like disease from a previous study. (
  • The observed phenotype then may be a consequence of the CNV itself, but the chimeric gene might contribute and modify it, as in those cases with a wide spectrum phenotype associated to similar CNVs with different breakpoints. (
  • All the genes forming the fusion transcript might have an important role in the central nervous system (CNS) development and/or in gene expression regulation and therefore may contribute to the phenotype of both patients. (
  • To test the efficacy of CRISPR /Cas9 in tomato, we chose to target a gene that, when function was disrupted, would result in a distinctive, immediately recognizable phenotype early in the plant tissue culture phase of Agrobacterium tumefaciens -mediated transformation. (
  • Conventional genetic screens exhibit biases, and genes contributing to a phenotype are often missed. (
  • The cloned gene was designated CAP60 , and deletion of this newly described capsule-associated gene resulted in an acapsular phenotype. (
  • deletion of either gene results in an acapsular phenotype. (
  • However, both genes are essential for virulence in mice, because acapsular strains resulting from gene deletion are unable to produce fatal infections or multiply in vivo and complementation of the acapsular phenotype restores virulence. (
  • Methods: A series of 586 high risk patients with breast/ovarian cancer that had previously been tested negatively for small mutations in BRCA1/2 was screened for LGRs by MLPA, LR-PCR and sequencing. (
  • MLPA-analysis was also used to detect two frequently occurring mutations in CHEK2 (c.1100delC and a deletion of 5395 bp). (
  • After the development of a synthetic probe set, MLPA analysis to screen for single exon deletions/duplications was performed. (
  • We describe here, for the first time, two partial deletions within the PPOX gene detected by MLPA analysis. (
  • Our findings emphasize the usefulness of MLPA analysis as a complement to PPOX gene sequencing analysis for comprehensive genetic diagnostics in patients with VP. (
  • Multiplex ligation-dependent probe amplification (MLPA) to detect large CDKL5 coding region deletions/duplications. (
  • The purpose of this study is to test for whole gene, or whole exon deletions in CYP1B1 that are not detected by Sanger sequencing methods using Multiplex Ligation-dependent Probe amplification (MLPA) in MEEI congenital glaucoma families who previously tested negative for mutations for CYP1B1. (
  • The MRC Holland SALSA MLPA P128-B2 Cytochrome P-450 probemix kit was used to assess copy number variation, specifically whole gene or whole exon deletion of CYP1B1. (
  • We demonstrated that the GSTM gene family has evolved through multiple structural variations, involving gene duplications, losses, large inversions and gene conversions. (
  • Deletions and duplications are usually pathogenic when affecting dose-sensitive genes. (
  • However, finding gene duplications that have produced new functions hasn't been easy. (
  • Most gene duplications studied have been silenced and subjected to deleterious mutations, rendering them useless. (
  • The breakpoints of large deletions/duplications will not be determined. (
  • The entire Agr gene and some flanking region were sequenced, and the transcription start site was determined. (
  • Transcription factors primarily regulate gene activation by recruitment of coregulators, which often influence expression by directly binding to the basal transcriptional machinery and/or through epigenetic remodeling of the chromatin structure. (
  • These coregulators can have positive (coactivator) and negative (corepressor) actions on target gene transcription ( 12 ), thus conferring a second level of specificity to the transcriptional response. (
  • Developmental plasticity" acts through epigenetic changes in gene transcription, alterations in tissue differentiation, and changes in homeostatic processes (Gluckman and Hanson, 2004). (
  • The epigenetic control of gene expression is based on modulation of chromatin structure and accessibility to transcription factors (Figure 1 ). (
  • Genes encoding other pancreatic transcription factors are thus obvious candidates for PNDM of unknown etiology. (
  • These phenotypes are characteristic of mutations in genes encoding components of the transcription apparatus. (
  • PDX1 (pancreatic and duodenal homeobox 1), also known as insulin promoter factor 1, is a transcription factor in the ParaHox gene cluster. (
  • MafA is a transcription factor that binds to the promoter in the insulin gene and has been postulated to regulate insulin transcription in response to serum glucose levels, but there is no current in vivo evidence to support this hypothesis. (
  • The molecular mechanisms that control β-cell-specific insulin gene transcription are well characterized. (
  • The third regulatory element, RIPE3b/C1, has also been shown to play a critical role in β-cell-specific insulin gene transcription as well as in glucose-regulated expression. (
  • Although much of the tanning response comprises a post-translational activation of the melanosome, transcription of the Tyrosinase gene is UV responsive (Hara et al. (
  • 1993). In addition to its role in regulating pigmentation genes, [the microphthalmia-associated transcription factor] Mitf is also critically required for the development of the melanocyte (Steingrímsson et al. (
  • USF comprises a combination of related ubiquitous bHLH-LZ transcription factors encoded by the Usf-1 and Usf-2 genes (Gregor et al. (
  • Gene ID: 7391 is USF1 upstream transcription factor 1 (aka upstream stimulatory factor 1). (
  • Gene ID: 7392 is USF2 upstream transcription factor 2, c-fos interacting. (
  • Gene ID: 205717 is USF3 upstream transcription factor family member 3. (
  • 1,25(OH) 2 D functions as a ligand for the nuclear vitamin D receptor (VDR) which, when paired with its heterodimeric retinoid X receptor partner, binds to sequence-specific recognition elements on DNA and stimulates or represses transcription of contiguous genes. (
  • These mutations can influence the frequency of transcription by altering the affinity of RNA polymerase for the sequence. (
  • Here, we have developed a genetic model in which neurons of the dorsal medial habenula (dMHb) are developmentally eliminated, via tissue-specific deletion of the transcription factor Pou4f1 (Brn3a). (
  • The lack of M2-2 resulted in decreased viral RNA replication needed for virus production while allowing gene transcription and antigen synthesis required for stimulating the immune response. (
  • We previously showed that deletion of the coding sequence for the viral M2-2 protein (ΔM2-2) down-regulated viral RNA replication and up-regulated gene transcription and antigen synthesis, raising the possibility of development of an attenuated vaccine with enhanced immunogenicity. (
  • Except where the products of the resulting mRNAs have distinct functions, transcription slippage occurring in a coding region is expected to be disadvantageous. (
  • When a transcription slippage-prone ('slippery') sequence occurs in a coding sequence, the mRNA products are heterogeneous. (
  • In an isolated mutant that had lost antifungal activity, the exogenous DNA fragment was integrated into the promoter region of the vibA gene, encoding a homologue of the transcription factor VIB-1. (
  • However, transcription of this gene remained unaffected in TEMS5032 compared to the wild type, N22. (
  • Following chromosomal integration via a single crossover event of a pMutin recombinant vector containing an internal fragment of the target gene, the target gene is inactivated, lacZ becomes transcriptionally fused to the gene, and the Pspac promoter controls the transcription of the downstream gene(s) in an IPTG-dependent fashion. (
  • Moreover, the proportion of the genome that is transcribed in any given cell type remains an open question: results from "tiling" microarray analyses suggest that transcription is pervasive and that most of the genome is transcribed, whereas new deep sequencing-based methods suggest that most transcripts originate from known genes. (
  • Eight were private, partial deletions and six correspond to whole gene deletions ranging from 0.15 to 2.9 Mb deleting nearby genes. (
  • With PCR sequencing of the entire coding and putative promoter regions of SLC4A11 , there were, however, some clinically confirmed CHED2 patients with undetected SLC4A11 mutations. (
  • Importantly, we recognized that the 76-bp deletion specifically removed the −35 and −10 motifs situated upstream of cntR that had been identified as a putative CntR autoregulatory binding site ( 9 ). (
  • Our results demonstrate the potential of the C. glabrata mutant collection as a valuable resource in functional genomics studies of this important fungal pathogen of humans, and to facilitate the identification of putative novel antifungal drug target and virulence genes. (
  • A highly aggressive isolate (7/96) from France contained a gene fragment of a putative nonaketide synthase ( lovB ) which was conserved in a virulent D. helianthi population. (
  • A large open reading frame encompassing its cell-derived sequences codes for its putative transforming protein. (
  • CAP59 is closely linked to the gene encoding the putative mitochondrial ribosomal L27 protein, and CAP64 is linked to the putative proteasome subunit gene, PRE1 . (
  • 4 , 5 This achieved two fortuitous things that transformed the putative SAS gene into an AFP gene: it stripped it of any SAS function, and enabled a change in reading frame, which altered the signal peptide, enabling the new protein to be secreted. (
  • Thus, some systems control gene expression directly, others indirectly, and a few do so in both ways. (
  • Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (
  • Gene expression was initiated during late embryogenesis and was also observed during the larval, prepupal, and adult stages. (
  • Knockdown of NCOA6, a core subunit of these methyltransferases, reduced expression of a subset of MAFA and MAFB target genes in mouse and human β-cell lines. (
  • Further detailed analysis of the expression of multiple genes bracketing the deletions revealed only minor expression differences in homozygous deletion and wild-type mice. (
  • In mature mice duodenum, several genes have been identified which are dependent on Pdx1 expression and include some affecting lipid and iron absorption. (
  • Furthermore, expression of Pdx1 is lost in gastric cancers, suggesting a role for the gene as a tumor suppressor. (
  • For example, a large, complete deletion of a protein coding gene will obviously lead to the elimination of the expression of that protein. (
  • Research on sponge collagen will focus on finding the optimal conditions for expression of the related genes. (
  • We used an islet-specific regulatory element (pdx1(PB)) from pancreatic/duodenal homeobox (pdx1) gene to maintain HNF6 expression in endocrine cells beyond 18.5 d.p.c. (
  • 1992 ) Onset of cell-specific gene expression in the developing mouse pancreas. (
  • Tumor-directed gene therapy has been limited by low transduction efficiency and relatively low levels of gene expression from current gene transfer vectors. (
  • This reduces its therapeutic potential despite modifications that allow tumor targeting and tumor-specific gene expression. (
  • With replicating viral vectors, levels of gene expression are higher and transduction efficiency is improved due to viral replication and subsequent spread to surrounding cells. (
  • The toolbox consists of a Cas9-gRNA expression vector and a donor DNA plasmid pair for each designer deletion. (
  • Transgenic mice have the wingless-related MMTV integration site 1 ( Wnt1 ) promoter/regulatory sequences directing expression of both Cre recombinase and the GAL4 transcriptional activator to midbrain and developing neural tube. (
  • In this study, we introduced an shRNA into mouse insulinoma MIN6 cells to deplete Pdx1 and found that expression of proapoptotic genes, including NIP3-like protein X ( Nix ), was increased. (
  • Within the past two decades, we have entered into a new RNA regulatory era where countless examples of RNAs that function to control gene expression across all kingdoms of life have been characterized. (
  • However, if the mutations do not immediately prevent the enzyme from functioning, but instead modify either its function, or its pattern of gene expression, then the two variants may both be favoured by natural selection and become specialised to different functions. (
  • Complete hydatidiform moles consist only of paternal DNA, and thus the cells lack p57 expression as the gene is paternally imprinted (silenced). (
  • The yihU promoter has a similar expression profile as the extracellular matrix gene promoters and is regulated via AgfD. (
  • These knockout mice demonstrated a reduction in end-diastolic and end-systolic volume by echocardiography, activation of the fetal gene program (ie, increased atrial natriuretic peptide and alpha skeletal actin gene expression), and increased expression of modulatory calcineurin inhibitory protein 1 (MCIP1), a direct downstream target of calcineurin/nuclear factor of activated T cell signaling. (
  • Endoderm-Specific Gene Expression in Embryonic Stem Cells Differentiated to Embryoid Bodies," Exp Cell Res. (
  • On hybridizing to the mRNA coding for a specific protein, antisense oligonucleotides reduce or inhibit the protein expression of a protein. (
  • We first conducted gene expression microarray analysis of 9 PMA and 13 PA from infra- and supratentorial sites. (
  • Researchers are developing methods to interfere with expression and function of myostatin and its gene to produce commercial livestock that have more muscle mass and less fat content. (
  • These molecules are the determinants of cell differentiation, growth, motility, gene expression, and how a group of cells function as a tissue or organ. (
  • Next generation sequencing technologies, including whole genome sequencing and RNA sequencing (mRNA-seq), are used to survey NHL tumors for somatic mutations, chromosomal alterations (e.g. translocations) and expression levels. (
  • Less than 7% of genes that exhibit a significant increase in messenger RNA expression are also required for optimal growth in four of the tested conditions. (
  • We demonstrated that while CEL1a and CEL1b were functionally equivalent in mediating the induction, the simultaneous absence of these intracellular β-glucosidases abolished cbh1 gene expression on lactose. (
  • We also present evidence that intracellular β-glucosidase-mediated lactose induction is further conveyed to XYR1 to ensure the efficiently induced expression of cellulase genes. (
  • Incorporation of strain-specific synthetic DNA tags into yeast Saccharomyces cerevisiae gene-deletion strains has enabled identification of gene functions by massively parallel growth rate analysis. (
  • However, these mutations result in anomalous hybridization in only a small subset of strains, and the sequence information enables redesign of hybridization probes for arrays. (
  • The yeast Saccharomyces cerevisiae is a particularly powerful experimental system, because multiple deletion strains can easily be pooled for parallel growth assays. (
  • Individual deletion strains have recently been created for 5,918 ORFs, representing nearly all of the estimated 6,000 genetic loci ( 1 ). (
  • Although a large majority of strains have two bar codes, some ORFs were replaced with only a single bar code in an earlier feasibility study. (
  • We examined fine-scale DSB distributions in TF mutant strains by deep sequencing oligonucleotides that remain covalently bound to Spo11 as a byproduct of DSB formation, mapped Bas1 and Ino4 binding sites in meiotic cells, evaluated chromatin structure around DSB hotspots, and measured changes in global messenger RNA levels. (
  • Comparative genomics of proteolytic C. botulinum recently identified four wound botulism strains as being closely related, each carrying identical copies of a new subtype (A5) of the A neurotoxin gene ( 3 ). (
  • Of 38 other strains of proteolytic C. botulinum also possessing the ha + form of the neurotoxin gene cluster ( 8 ), selected as representing a wide range of diseases caused, geographical distribution and type of neurotoxin(s) formed ( 3 ), only the type B toxin-forming strain 2345 shared the same deletion, implying that this modification is quite rare. (
  • To identify novel genes implicated in antifungal drug tolerance, we have constructed a large-scale C. glabrata deletion library consisting of 619 unique, individually bar-coded mutant strains, each lacking one specific gene, all together representing almost 12% of the genome. (
  • Here, we describe a CRISPR-Cas9 toolbox that can be used to quickly introduce "designer" auxotrophic marker deletions into host strains, including leu1 -Δ 0 , his3 -Δ 0 , and lys9 -Δ 0 . (
  • This toolbox for producing designer deletions, together with the newly developed strains and plasmids, will benefit the whole yeast community. (
  • The study of chromosomal genes and the modification of bacterial strains require the development of new strategies and new genetic tools to facilitate the rapid screening of recombinant clones. (
  • However, these plasmids lack the repA gene encoding the replication initiation protein and are unable to replicate in any bacterial strains unless the RepA protein is provided in trans . (
  • Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. (
  • Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri-Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the spectrum. (
  • Extensive profiling of phenotypes reveals a number of novel genes implicated in tolerance to antifungal drugs that interfere with proper cell wall function, as well as genes affecting fitness of C. glabrata both during normal growth and under environmental stress. (
  • A separate cohort of 159 PCF specimens was also evaluated for KRAS / GNAS mutations by Sanger sequencing. (
  • In comparison, KRAS/GNAS mutations by Sanger sequencing had a 65% sensitivity and 100% specificity. (
  • Conclusions In contrast to Sanger sequencing, preoperative NGS of PCF for KRAS / GNAS mutations is highly sensitive for IPMNs and specific for mucinous PCs. (
  • Investigators examined a number of MB tumors using high-density microarrays and Sanger sequencing. (
  • A small group of hemoglobin (Hb) variants result from 'in-frame' deletion/insertion (del/ins). (
  • Comparison of variants of this group, found in the HbVar database, shows that structural modifications resulting from insertions are frequently less damaging than that caused by deletions. (
  • Further technical development in the field, such as next-generation sequencing, has recently enabled identification of rare variants. (
  • Type 2 diabetes susceptibility gene variants predispose to adult-onset autoimmune diabetes. (
  • It is assumed that structural variants can have a profound functional impact when they overlap with coding sequences. (
  • Two unrelated patients carried CDKN2A p.Ala148Thr in combination with MC1R p.Arg142His, suggesting digenic inheritance that may provide evidence of different gene variants acting synergistically to contribute for CM development. (
  • Variants in the beta (β)-globin gene ( HBB ) can result in anemia, β thalassemia, or sickling disorders of varying severity. (
  • Alternative splicing of this gene results in multiple transcript variants. (
  • This definition encompasses (1) enzyme variants that are the product of different genes and thus represent different loci (described as isozymes) and (2) enzymes that are the product of different alleles of the same gene (described as allozymes). (
  • These arrays omit potentially important genes and sequence variants from the pan-genome. (
  • Most alterations are whole gene deletions, point mutations within the coding region, or microdeletions in its flanking sequences. (
  • Most patients carry pathogenic point mutations in the paired box 6 gene ( PAX6 ), but some carry deletions involving the 11p13 region, encompassing partly or completely PAX6 or the region downstream. (
  • These mutations can revert (for the point mutations) and/or be repaired via homologous recombination with wild-type marker genes from plasmids, allowing for vector loss. (
  • citation needed] Allozymes may result from point mutations or from insertion-deletion (indel) events that affect the DNA coding sequence of the gene. (
  • Construction of the KanMX deletion cassette and the gene-deletion molecular barcoding strategy. (
  • A PCR-based deletion strategy was used to systematically replace each ORF with a cassette containing a kanamycin-(geneticin) resistance marker along with a unique pair of oligonucleotide (20-mer) molecular tags ( 2 ). (
  • Preferred test for molecular confirmation of β thalassemia or a hemoglobinopathy involving the β-globin gene. (
  • Evolution of Programmed DNA Rearrangements in a Scrambled Gene Molecular Biology and Evolution. (
  • The molecular target for antisense oligonucleotides is the mRNA, which codes for a specific protein. (
  • Molecular tools such as random amplification of polymorphic DNA (RAPD) ( 9 , 35 , 36 ), mitochondrial restriction fragment length polymorphisms (RFLP) ( 7 ), and ribosomal DNA (rDNA) internal transcribed spacer (ITS1 and ITS2) sequences ( 25 , 37 ) have been tested for their efficacy in differentiating F. subglutinans f. sp. (
  • DNA sequences dubbed 'molecular bar codes' uniquely identify each strain, enabling their growth to be analysed in parallel and the fitness contribution of each gene to be quantitatively assessed by hybridization to high-density oligonucleotide arrays. (
  • Molecular evolution of AFPIII from SAS-B . One daughter SAS-B duplicate (SAS-B ' ) underwent N-terminal domain deletion (seventh codon of E1 through E5) and neofunctionalization into AFPIII . (
  • Molecular diagnostics based on the development in sequencing and genotyping of tumor DNA plays a crucial role in personalized therapy [ 3 ]. (
  • Molecular genetic analyses require the exchange by homologous recombination of a chromosomal gene by a mutated allele or inactivated copy, and several strategies have been developed for generating gene replacements in bacterial chromosomes. (
  • The recent molecular characterization of the candidate gene HvGA20ox2 for sdw1/denso locus allows to estimate the impact of the functional polymorphism of this gene on the variation of agronomically important traits in barley. (
  • B ) gata2a coding and amino acid sequence in the region of the um27 deletion. (
  • Sequence analysis revealed that sf3′h1 consists of 1690 nucleotides encoding 513 amino acids. (
  • Isozymes (also known as isoenzymes or more generally as multiple forms of enzymes) are enzymes that differ in amino acid sequence but catalyze the same chemical reaction. (
  • Modifying the amino acid sequence of a polypeptide chain can have various consequences including modifying protein structure. (
  • Translation of these mRNAs yields protein products that differ in their amino-acid sequence downstream of the slippery sequence. (
  • Activation of human raf transforming genes by deletion of normal amino-terminal coding sequences. (
  • Blot hybridization analysis indicated that all three transforming raf genes had recombined with non-raf sequences in the vicinity of raf exon 7-intron 7, resulting in the deletion of about 40% of the normal coding sequence from the raf amino terminus. (
  • In the entire coding sequence, several amino acid substitutions were identified in addition to deletions or insertions at three regions of the gene. (
  • We identified a novel deletion,∼564 kb in size located about 46.5 kb downstream of PAX6 in a family with bilateral aniridia and foveal hypoplasia using array-CGH and multiplex ligation-dependent probe amplification. (
  • This insertion/deletion (ins/del) is likely favored by the repetition, at an interval of 16 nucleotides, of an eight nucleotide sequence. (
  • 4 ). The two type A5 neurotoxin clusters share 99.7% nucleotide sequence identity between the 3′ end of the cntE ( ha70 ) gene and the 3′ end of the type B3 neurotoxin-encoding gene. (
  • The complete nucleotide sequence of a mammalian transforming retrovirus. (
  • Regions in SAS-B ' corresponding to the regions in the two-exon AFPIII gene are indicated with dark grey for the two genes, with nucleotide sequence identities given. (
  • We have disrupted the murine Hjv gene and shown that Hjv -/- mice have markedly increased iron deposition in liver, pancreas, and heart but decreased iron levels in tissue macrophages. (
  • In contrast, a broader effect on MafA/MafB gene activation was observed in mice lacking NCoA6 in islet β-cells. (
  • UT-B null mice have been recently generated by targeted gene deletion. (
  • Viable mice homozygous for the deletions were generated and were indistinguishable from wild-type littermates with regard to morphology, reproductive fitness, growth, longevity and a variety of parameters assaying general homeostasis. (
  • Gene disruption experiments in mice have revealed that both Beta2 and Pdx1 play critical roles in insulin gene regulation as well as in islet development and function ( 1 , 8 , 21 ). (
  • In tumor models in mice, the TK/VGF double-deletion mutant displayed higher tumor-targeting capacity and potent tumoricidal activity with reduced viral pathogenicity ( 10 ). (
  • When Wnt-1/GAL4/cre-11 transgenic mice are bred to mice containing loxP site-flanked sequences, cre -mediated recombination results in deletion of the floxed sequences in the midbrain and developing neural tube of the resulting offspring. (
  • By knocking out the gene for myostatin in mice, they were able to show that the transgenic mice developed two to three times more muscle than mice that contained the same gene intact. (
  • Lee commented that the myostatin gene knockout mice 'look like Schwarzenegger mice. (
  • The double-muscling trait of the myostatin gene knockout mice and the double-muscled cattle demonstrates that myostatin performs the same biological function in these two species. (
  • Knocking out the gene in transgenic mice or mutations in the gene such as in the double-muscled cattle result in larger muscle mass. (
  • Targeted Ulk4 deletion causes corpus callosum agenesis in mice. (
  • Practical pointers for 2-component and 3-component CRISPR editing are summarized with many applications in mice including frameshift mutations, deletion of enhancers and noncoding genes, nucleotide substitution of protein-coding and gene regulatory sequences, incorporation of loxP sites for conditional gene inactivation, and epitope tag integration. (
  • This triple mutant line was generated by utilizing CRISPR/cas9 endonuclease mediated genome editing of the App gene in B6(SJL)- Apoe tm1.1(APOE*4)Adiuj Trem2 em1Adiuj /J (available as Stock No. 028709 ) mice. (
  • The programming process occurs during "critical periods" of embryo-fetal life characterized by high cell proliferation rate in the developing tissues and may involve structural and functional changes in genes, cells, tissues, and even whole organs. (
  • Chimeric genes can have different possible consequences: when due to a deletion, not only the loss of a fully functional copy of the gene is especially relevant for haploinsufficient genes, but also the gain-of-function of the chimeric gene. (
  • Our results validate the yeast gene-deletion collection as a valuable resource for functional genomics. (
  • The ability of such genes to encode functional full-length protein products brings into question their annotation as pseudogenes and in these cases is pertinent to the significance of the term 'authentic frameshift' frequently assigned to such genes. (
  • Although sequences that are able to cause efficient transcriptional slippage occur infrequently in genomic DNA, they have been found and a functional role has been assigned to some of them. (
  • For genes encoding a single functional protein product, the presence of slippery sequences is expected to be detrimental, as it is likely to squander cellular resources to synthesize unwanted, or in some instances even deleterious, products. (
  • Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility. (
  • Restriction length polymorphisms were observed among the respective MAP1 genes analyzed and were confirmed by sequencing. (
  • As shown, the red (tag) and blue (flanking) segments of synthetic DNA are critical to bar-code amplification and discrimination by hybridization probes. (
  • Development of the polyploid somatic genome requires programmed DNA deletion of micronuclear-limited intragenic noncoding sequences and permutation and amplification of the protein-coding regions. (
  • The ENCODE project made a big splash a couple of years ago - it is a huge project to not only ask what the sequence of a strand of human DNA was, but to analyzed and annotate and try to figure out what it was doing. (
  • In most cases CNVs are either too rare to obtain statistical evidence for association or, when recurrent, disrupt multiple genes. (
  • Sequence analysis of the FOXC1 and PITX2 coding regions identified two plausibly pathogenic de novo FOXC1 missense mutations (p.Pro79Thr and p.Leu101Pro). (
  • Pathogenic CDKL5 gene mutations. (
  • OBJECTIVES: To assess whether coselection of EGFR gains on 7p12 and monosomy 10 in glioblastomas promotes tumorigenic epidermal growth factor (EGF) signaling through loss of the annexin A7 (ANXA7) gene on 10q21.1-q21.2 and whether ANXA7 acts as a tumor suppressor gene by regulating EGFR in glioblastomas. (
  • However, such a whole-genome tiling requires that the genome sequence is known in advance. (
  • This diploma thesis is focused on a whole-genome sequencing and annotation of two selected cyanobacterial species, freshwater cyanobacterium Jacksonvillea apiculata 2014/77b and epizoic or endozoic cyanobacteria Synechococcus sp. (
  • Theoretical part of this thesis contains principal knowledge of phylogenomics, cyanobacterial genomics and genome streamlining, using whole-genome sequencing to study the evolution of cyanobacteria and secondary metabolism. (
  • According to Kaye [ 1 ], chromosomal translocations and fusion oncogenes are the most frequent type of somatic DNA alteration in cancer, detected in 282 of the 384 validated cancer genes. (
  • Four were caused by chromosomal translocations that generated more than one fusion transcript [ 5 - 8 ], and another case was due to an interstitial deletion [ 9 ]. (
  • This analysis led to the uncharacterized genes, NFU1 , ISU1 , and ISU2 , which are related to domains of NifU, a protein from nitrogen-fixing bacteria. (
  • For most genes, sequence analysis covers the entire coding region and associated splice junctions. (
  • Sequence analysis was performedfor MVK, TNFRSF1A and NLRP3 genes which is also known to cause HRFs. (
  • Sequence analysis of the gene from a pair of near-isogenic lines for T , To7B ( TT , brown) and To7G ( tt , gray) revealed that they differed by a single C deletion in the coding region of To7G. (
  • PCR-RFLP analysis was performed to detect the single-base deletion. (
  • Analysis of their domains revealed that most PKS genes of D. helianthi are reducing PKSs, whereas only eight lacked reducing domains. (
  • The bioinformatics analysis uncovered several frequently altered genes that were not previously identified as mutated in MB, many of which have significant biological implications. (
  • In a total of 31 Swedish VP families sequence analysis had identified a genetic defect in 26. (
  • DNA sequence analysis revealed that CAP60 has similarity to CAP59 at the center portion of its coding regions. (
  • Analysis of DNA sequences did not reveal their functions. (
  • However, very few specific susceptibility genes for schizophrenia, for example Neurexin1, have been implicated definitively by CNV analysis. (
  • For the accurate analysis of uncharacterized bacteria, an array must query a fully representative set of sequences from the species' pan-genome. (
  • Practical part of this thesis involves processing primary sequence data, complete annotation of coding regions, repetitive sequences, tRNA, gene ontology analysis, presence of secondary metabolism and an inference of cyanobacterial phylogeny of the two selected cyanobacterial species by the phylogenomic approach. (
  • This part also contains the analysis of horizontal gene transfer, presence of deletions and inversions of Synechococcus sp. (
  • The human ApoE sequence also contains a 2 nucleotide A to T substitution in intron 3 for identification of the targeted allele by Southern analysis. (
  • Comparative analysis of the primary protein sequence of ADRA2B across placentals also showed the high conservation of residues thought to be involved in agonist binding and in G protein-coupling. (
  • For each strain, the ORF was replaced and tagged by mitotic recombination with the selectable resistance gene KanMX cassette, which is linked to one or two unique 20-mer sequence tags (UPTAG and DNTAG) that are flanked on both sides by common primer sequences (U1 and U2 for UPTAG, D1 and D2 for DNTAG) that vary in length by design from 17 to 19 nt ( 2 ) ( Fig. 1 ). (
  • Although ORF replacement was previously verified for each strain by several PCR amplifications ( 1 ), the identity of the 20-mer tag identifiers (see also the Yeast Deletion Project web site, ), 17- to 19-mer common primer sequences and the sequence of both recombination junctions in the yeast genome of each gene-deletion strain were not previously confirmed by direct sequencing. (
  • Sequencing of thebreakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism. (
  • These two-step strategies proceed by homologous recombination between a target gene and homologous sequences carried on a plasmid which is temperature sensitive for DNA replication. (
  • Screening of clones where an efficient second recombination event has taken place (i.e., where the loss of the vector is concomitant with the deletion of the gene of interest) is rather difficult without positive selection or colorimetric screening of the candidate clones. (
  • The presence or the absence of the lacZ gene enables a simple blue-white screening of recombination events. (
  • Epigenetics, epistasis, gene-environment interactions, parent-of-origin effects, and noncoding RNAs are current research areas that provide additional layers to the genetic architecture and might reveal some of the missing heritability. (
  • To identify the genetic defects, we first performed PCR sequencing covering the entire coding region of SLC4A11 . (
  • The genetic material directly upstream of a gene (towards the 5' region of the sense strand). (
  • Cystic Fibrosis , one of the most common genetic diseases, develops as a result of a faulty recessive gene (c) which was identified in 1989. (
  • Mutations in the voltage-gated sodium channel SCN1A gene are the main genetic cause of Dravet syndrome (previously called Severe Myoclonic Epilepsy of Infancy or SMEI). (
  • In some MB patients, there are several causative genetic alterations that have already been identified, including alterations in Hedgehog and Wnt pathway genes. (
  • The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis. (
  • In the second round of PCR, the ORF-specific homology of the deletion construct was extended to 45 bp by using two upstream ORF-specific primers (UP45 or DN45). (
  • They belong to two different subfamilies encoded by two different genes, UT-A and UT-B, which share a high homology (for a review, see Refs. (
  • It had 68% and 66% homology with corresponding F3′H protein sequences of petunia and Arabidopsis , respectively. (
  • however, most others can recombine with the genome due to sequence homology shared between the genomic and plasmid-borne copies of the markers. (
  • Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (
  • insertion marks represent in-frame deletions of the majority of the gene coding sequence or promoter regions performed in SE 3b. (
  • Most intragenic mutations enlarge the repeat domain by duplicating various portions of the repeat coding sequence. (
  • Although, strictly speaking, allozymes represent enzymes from different alleles of the same gene, and isozymes represent enzymes from different genes that process or catalyse the same reaction, the two words are usually used interchangeably. (
  • Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. (
  • Treatment of neonatal cardiomyocytes with 1,25-dihydroxyvitamin D partially reduced isoproterenol-induced MCIP1 mRNA and protein levels and MCIP1 gene promoter activity. (
  • A number of genes with disrupted open reading frames (ORFs) have slippage-prone sequences at which transcriptional slippage would result in uninterrupted ORF restoration at the mRNA level. (
  • In such an mRNA population, the sequence downstream of a slippery pattern generally occurs in all three different reading phases relative to the reading frame 5' of the slippage-prone sequence. (
  • Significant overexpression of raf mRNA was not evident in two of the three transformant lines, indicating that raf overexpression is not necessary and 5' truncation alone may be sufficient to activate the transforming potential of cellular raf genes. (
  • Background: A greatly increased risk for development of hereditary breast cancer is associated with germline mutations in several susceptibility genes. (
  • In Saccharomyces cerevisiae , many DSBs occur in "hotspots" coinciding with nucleosome-depleted gene promoters. (
  • One of the mechanisms of programming is the epigenetic modification of gene promoters involved in the control of key metabolic pathways. (
  • We propose that most of these transcripts may be by-products of the activity of enhancers, which associate with promoters as part of their role as long-range gene regulatory sites. (
  • Array-based comparative genomic hybridization identified six whole gene deletions: four encompassing PAX6 and two encompassing FOXC1 . (
  • Six deletions with plausible cis -regulatory effects were identified: five that were 3ʹ (telomeric) to PAX6 and one within a gene desert 5ʹ (telomeric) to PITX2 . (
  • We also reviewall of the reported deletions downstream of PAX6 in patients with aniridia and/or other congenitalmalformations and define the overlapping region that leads to aniridia when deleted. (
  • telomeric) to PAX6 and one within a gene desert 5? (
  • 6 ), showed that the neurotoxin gene cluster was chromosomally located, as with type A1 neurotoxin genes ( 10 , 12 ), while some type A2 and all types A3 and A4 are plasmid borne ( 6 , 12 ). (
  • In consequence, high transformation frequencies are required to obtain integrants and deletions or substitutions are produced after resolution of cointegrants, thus limiting the use of this plasmid vector to naturally competent bacteria with a high efficiency of transformation ( 12 ). (
  • A system for generating deletions in open reading frames of E. coli was developed by using plasmid pK03, which contains a temperature-sensitive origin of replication, a chloramphenicol resistance gene, and a counterselectable sacB gene to facilitate allelic exchange. (
  • However, creating marker deletions without introducing any new markers or LoxP sites remains complicated and laborious. (
  • In humans this protein is encoded by the PDX1 gene, which was formerly known as IPF1. (
  • Coelacanth and cartilaginous fish are, so far, the only vertebrates shown to have two Pdx genes, Pdx1 and Pdx2. (
  • The fat sand rat Psammomys obesus, a species with susceptibility to Diabetes mellitus type 2 symptoms, has a highly divergent Pdx1 gene sequence compared with other mammals. (
  • Furthermore, mutations in both the Beta2 and Pdx1 genes have been identified within populations of patients with type II diabetes ( 18 , 29 , 30 ). (
  • The number of protein-coding genes is much lower than initially expected, and the number of distinct transcripts is much larger than the number of protein-coding genes. (
  • In the first round of PCR, upstream and downstream 74-mer primers were used to amplify the KanMX gene (from pF-kanMX4) and to incorporate the two bar-code sequences into the deletion cassette. (
  • Proper incorporation of each cassette was verified by PCR by using primers selected from the gene-specific region, 200-400 bp upstream from the ORF start codon, along with a common primer from the KanMX region. (
  • By cloning sequences upstream of the truncated raf loci we have shown that the rearrangements involve the fusion of three different 5' non-raf human sequences to the human raf gene. (
  • Epithelioid hemangioendothelioma is a rare vascular tumor of borderline malignancy characterized by recurrent WWTR1-CAMTA1 gene fusions in approximately 90 % of cases. (
  • In addition, a recurrent YAP1-TFE3 gene fusion has been identified in WWTR1-CAMTA1 negative epithelioid hemangioendotheliomas. (
  • We've known about this kind of data for 15 years and it's one of the reasons why many scientists over-estimated the number of humans genes in the decade leading up to the publication of the human genome sequence. (
  • The human genome was sequenced a decade ago, but its exact gene composition remains a subject of debate. (
  • No rearrangements could be detected in the raf loci of the three original human tumor DNAs, suggesting that the raf genes were activated by DNA rearrangements occurring during transfection. (
  • An example involving a single nucleotide deletion occurs in apoB , the human gene in which defects cause familial hypobetalipoproteinemia. (
  • Sequences similar to the Agr coding region were detected in other dipteran species. (
  • Here we describe the germ line and somatic architectures of the gene encoding alpha-telomere-binding protein in three early-diverging species (Holosticha sp. (
  • and Paraurostyla weissei) and trace the natural history of DNA rearrangements in this gene in six species, including three previously studied oxytrichids. (
  • Comparisons of homologous coding regions between earlier and later diverging species provide evidence for fusion of scrambled germ line fragments as small as 24 bp during evolution, as well as simultaneous fragmentation and scrambling of the germ line locus and shifting of the boundaries between coding and noncoding DNA, leading to distinct gene architectures in each species. (
  • Two different copies of the ITS2 region were identified in the same isolate within some of the species in Fusarium section Liseola ( 25 , 37 ), and a reliable diagnostic technique based on these sequences could not be developed. (
  • 26 ) used the DNA sequences of the nuclear rDNA large subunit, mitochondrial small subunit, and β-tubulin to develop a phylogeny that includes 36 taxa in the G. fujikuroi species complex. (
  • Alternative regions such as the histone and β-tubulin genes might be used more effectively. (
  • During the past 12 years, there has been rapid development of genome-editing strategies that make it possible to directly target regions of genes in a DNA sequence-specific manner. (
  • Additionally, we screened non-coding regions of the gene that are usually not investigated. (
  • Finally, mutations in exon 5N and in untranslated regions of the SCN1A gene that were conserved during evolution were excluded in the remaining negative patients. (
  • Altogether, these findings widely expand the SCN1A mutations spectrum identified and highlight the importance of screening the coding regions with both direct sequencing and a quantitative method. (
  • This probably leads to selection against most slippage-prone sequences in coding regions. (
  • their sequences are often conserved and are often encoded in regions of open chromatin. (
  • Bidirectional sequencing of the CDKL5 coding region and intron-exon boundaries. (
  • PanArray is an oligonucleotide probe selection algorithm for tiling multiple genome sequences using a minimal number of probes. (
  • Three conserved cis -regulatory elements within the promoter, E1, A3, and RIPE3b/C1, respectively, appear to be indispensable for proper insulin gene regulation ( 22 , 25 ). (
  • Both Cre recombinase and the GAL4 transcriptional activator are expressed under the direction of wingless-related MMTV integration site 1 ( Wnt1 ) promoter/regulatory sequences. (
  • Six deletions with plausible cis-regulatory effects were identified: five that were 3? (
  • DAF1, a mutant gene affecting size control, pheromone arrest, and cell cycle kinetics of Saccharomyces cerevisiae. (