Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Genetic Variation: Genotypic differences observed among individuals in a population.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Homozygote: An individual in which both alleles at a given locus are identical.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.HLA-DRB1 Chains: A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.HLA-DQ Antigens: A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.HLA-DR Antigens: A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.HLA-B Antigens: Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Apolipoprotein E4: A major and the second most common isoform of apolipoprotein E. In humans, Apo E4 differs from APOLIPOPROTEIN E3 at only one residue 112 (cysteine is replaced by arginine), and exhibits a lower resistance to denaturation and greater propensity to form folded intermediates. Apo E4 is a risk factor for ALZHEIMER DISEASE and CARDIOVASCULAR DISEASES.Suppression, Genetic: Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Minisatellite Repeats: Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Heterozygote Detection: Identification of genetic carriers for a given trait.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.HLA-DQ alpha-Chains: Transmembrane proteins that form the alpha subunits of the HLA-DQ antigens.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Genes, Plant: The functional hereditary units of PLANTS.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Genetic Testing: 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.HLA Antigens: Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.Apolipoproteins E: A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.Genes, Fungal: The functional hereditary units of FUNGI.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.China: A country spanning from central Asia to the Pacific Ocean.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.HLA-A Antigens: Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Dinucleotide Repeats: The most common of the microsatellite tandem repeats (MICROSATELLITE REPEATS) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen.HLA-C Antigens: Class I human histocompatibility (HLA) antigens encoded by a small cluster of structural genes at the C locus on chromosome 6. They have significantly lower immunogenicity than the HLA-A and -B determinants and are therefore of minor importance in donor/recipient crossmatching. Their primary role is their high-risk association with certain disease manifestations (e.g., spondylarthritis, psoriasis, multiple myeloma).Mutagenesis, Insertional: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Zea mays: A plant species of the family POACEAE. It is a tall grass grown for its EDIBLE GRAIN, corn, used as food and animal FODDER.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Fungal Proteins: Proteins found in any species of fungus.Genes, MHC Class II: Genetic loci in the vertebrate major histocompatibility complex that encode polymorphic products which control the immune response to specific antigens. The genes are found in the HLA-D region in humans and in the I region in mice.Trinucleotide Repeats: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.Genes, Suppressor: Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Saccharomyces cerevisiae Proteins: Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
Allele Query Form IMGT/HLA - European Bioinformatics Institute Daniel M. Davis (2014). The Compatibility Gene. How Our Bodies ... "HLA Nomenclature @ hla.alleles.org". Anthony Nolan Research Institute. 10 Nov 2013. Retrieved 8 Dec 2013. "Allele Search Tool ... allele group at the HLA-A locus. The A*02 allele group can code for many proteins; as of December 2013 there are 456 different ... For A*02, the α chain is encoded by the HLA-A*02 gene and the β chain is encoded by the B2M locus. In 2010 the World Health ...
The expression of an organism's genes is usually determined by pairs of alleles. Alleles are different forms of a gene. In our ... In other words, just as all the pair of alleles within the genetic material of an organism determines the physical ... It results from the expression of an organism's genes and the influence of the environment. ...
Polymorphic genes have more than one allele at each locus. Half of the genes that code for enzymes in insects and plants may be ... Each gene pool includes various alleles of genes. The variation occurs both within and among populations, supported by ... Crossing over and random segregation during meiosis can result in the production of new alleles or new combinations of alleles ... Mutations are likely to be rare and most mutations are neutral or deleterious, but in some instances, the new alleles can be ...
"Entrez Gene: PEPD peptidase D". Maher MJ, Ghosh M, Grunden AM, Menon AL, Adams MW, Freeman HC, Guss JM (Mar 2004). "Structure ... Ledoux P, Scriver C, Hechtman P (Jun 1994). "Four novel PEPD alleles causing prolidase deficiency". American Journal of Human ... Xaa-Pro dipeptidase, also known as prolidase, is an enzyme that in humans is encoded by the PEPD gene. Xaa-Pro dipeptidase is a ... Tanoue A, Endo F, Matsuda I (Jul 1990). "Structural organization of the gene for human prolidase (peptidase D) and ...
40S ribosomal protein S14
As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through ... Martin-Nieto J, Roufa DJ (1997). "Functional analysis of human RPS14 null alleles". J. Cell Sci. 110 (8): 955-63. PMID 9152021 ... 1994). "The addition of 5'-coding information to a 3'-directed cDNA library improves analysis of gene expression". Gene. 146 (2 ... This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S11P family of ...
Murai J, Taira T, Ohta D (1999). "Isolation and characterization of the three Waxy genes encoding the granule-bound starch ... II The location of the controlling element alleles". Genetics. 60 (3): 507-524. PMC 1212058 . PMID 17248421. Molecular and ... synthase in hexaploid wheat". Gene. 234 (1): 71-9. doi:10.1016/S0378-1119(99)00178-X. PMID 10393240. Nelson OE (1968). "The ...
A gene is represented by one or a few letters. Often a "+" symbol is used to mark the usual, non-mutant allele for a gene. In ... The two alleles for a gene are located on identical loci of the two homologous chromosomes, each allele inherited from a ... Diploid organisms with two copies of the same allele of a given gene are called homozygous at that gene locus, while organisms ... alleles for the two genes tend to be inherited together. The amounts of linkage between a series of genes can be combined to ...
The second, the gene pool could only be alleles for a single trait in the population. Once the alleles are chosen for the gene ... All of the alleles become the gene pool. When using the beanbag approach, there are two ways that the gene pool can be viewed. ... The first is to view the gene pool as all the alleles that represent all the traits in the population be viewed at once. ... The beanbag full of beans would be considered the gene pool for the population. The paper 'Perils of "industrial gene" and " ...
Two gene loci and so four alleles exist. It is also connected to the deletion of the 16p chromosome. α Thalassemias result in ... The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin ... The β globin chains are encoded by a single gene on chromosome 11; α globin chains are encoded by two closely linked genes on ... Mutated alleles are called β+ when partial function is conserved (either the protein has a reduced function, or it functions ...
There are numerous null genes at this locus. DRB5*01 allele group 14 Alleles: 11 proteins, 2 Nulls DR51 Serotype: *0101, *0102 ... DRB5* is subdivided into two allele groups, DRB5*01 and DRB5*02. B5*01 encodes 14 alleles and 11 isoforms. B5*02 encoded 4 ... 0110N DRB5*02 allele group 4 Alleles: 4 proteins DR51 Serotype: *0202, Serotype unknown: *0203 to *0205 DR51 serotype is ... HLA-DR2 HLA-DR15 - DRB1*15 HLA-DR16 - DRB1*16 Gorski J, Rollini P, Mach B (1987). "Structural comparison of the genes of two ...
and 2.Liu Y, Liu Z, Fu Y, Jia Z, Chen S, Xu A (2006). "Polymorphism of HLA class II genes in Miao and Yao nationalities of ... Three groups with high levels, the Kogui, Sikuni, and Yucpa, have about 75% DQ8, the dominant DRB1* allele in 2 of 3 is the * ... DQB1*0305 gene product reacts slightly more intensely with DQ8 than DQ7 its generally rare in Europe and North America, except ... and 2.Zhou L, Lin B, Xie Y, Liu Z, Yan W, Xu A (2005). "Polymorphism of human leukocyte antigen-DRB1, -DQB1, and -DPB1 genes of ...
... is a protein that in humans is encoded by the WWC1 gene. A single nucleotide polymorphism (rs17070145) in the gene has been ... "Common Kibra alleles are associated with human memory performance". Science. 314 (5798): 475-8. doi:10.1126/science.1129837. ... "Entrez Gene: WWC1 WW and C2 domain containing 1". "dbSNP: rs17070145". Papassotiropoulos A, Stephan DA, Huentelman MJ, Hoerndli ... Schaper K, Kolsch H, Popp J, Wagner M, Jessen F (July 2008). "KIBRA gene variants are associated with episodic memory in ...
"Entrez Gene: RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1". Dryja TP, Adams SM, Grimsby JL, McGee TL, ... Hong DH, Li T, Andréasson S, Berson EL (May 2001). "Null RPGRIP1 alleles in patients with Leber congenital amaurosis". American ... Hameed A, Abid A, Aziz A, Ismail M, Mehdi SQ, Khaliq S (August 2003). "Evidence of RPGRIP1 gene mutations associated with ... Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma. RPGRIP1 has been ...
However, organelle alleles may or may not do this. Nuclear genes are inherited from a combination of alleles from both parents ... It is also unlikely for organelle alleles to segregate independently, like nuclear alleles do, because plastid genes are ... This is to ensure that each daughter cell gets a copy of every gene. However, organelle genes in heteroplasmic cells can ... Consequently, when paired with a high degree of replication, a rare or mutated allele can begin to proportionally dominate. In ...
Zhang H, Liu X, Zhang C, Mundo E, Macciardi F, Grayson DR, Guidotti AR, Holden JJ (2002). "Reelin gene alleles and ... the scientist who discovered the reelin gene and protein Human RELN at WikiGenes "Reelin gene expression in mice". Brain Gene ... "Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder". Molecular Psychiatry. 6 (2): 150-9. doi: ... of the genes from the human accelerated regions. There is also evidence of that variants in the DAB1 gene have been included in ...
Hypermorphic alleles are gain of function alleles. A hypermorph can result from an increase in gene dose (a gene duplication), ... Key: In the following sections, alleles are referred to as +=wildtype, m=mutant, Df=gene deletion, Dp=gene duplication. ... Muller's classification of mutant alleles Muller, H. J. 1932. Further studies on the nature and causes of gene mutations. ... The phenotype of a hypermorph is worsened by increasing the wildtype gene dose, and is reduced by lowering wildtype gene dose. ...
Humans and most animals are diploid; thus there are two alleles for any given gene. These alleles can be the same (homozygous) ... In the case of an albino with a recessive allele (aa), the phenotype depends upon the other allele (Aa, aA, aa or AA). An ... If a heterozygote mates with another heterozygote, there is 75% chance passing the gene on and only a 25% chance that the gene ... This contains two alleles : C and T. SNPs typically have three genotypes, denoted generically AA Aa and aa. In the example ...
Gene diversity is the proportion of polymorphic loci across the genome. Heterozygosity is the fraction of individuals in a ... This occurs in host-pathogen interactions, where a high frequency of a defensive allele among the host means that it is more ... Alleles per locus is also used to demonstrate variability. Nucleotide diversity is the extent of nucleotide polymorphisms ... When a virus containing the genes of one cell infects another, the genetic makeup of the latter changes. This constant shift of ...
The HERC2 gene's derived rs916977 allele is most common in Europe; particularly in the north and east, where it nears fixation ... "Entrez Gene: HERC2 hect domain and RLD 2". Bryner J (2008-01-31). "Here's what made those brown eyes blue". Health News. MSNBC ... Probable E3 ubiquitin-protein ligase HERC2 is an enzyme that in humans is encoded by the HERC2 gene. A mutation in the HERC2 ... "Allele Frequency For Polymorphic Site: rs916977". ALFRED. Retrieved 22 June 2016. Nagase T, Ishikawa K, Nakajima D, et al. ( ...
Alpha thalassemia abnormal morphogenesis
People have two copies of the HBA2 gene in each cell. Each copy is called an allele. For each gene, one allele is inherited ... Normally each person has four genes for alpha globin, Alpha thalassemia happens when one or more of the genes that control the ... It's carried in the genes and passed on from parents to children. People who are carriers of a thalassemia gene show no ... Alpha Thalassemia typically results from deletion involving the HBA1 and HBA2 genes. Both of these genes provide instructions ...
T-cell surface glycoprotein CD1e, membrane-associated is a protein that in humans is encoded by the CD1E gene. This gene ... Mirones I, Oteo M, Parra-Cuadrado JF, Martínez-Naves E (2001). "Identification of two novel human CD1E alleles". Tissue ... "Entrez Gene: CD1E CD1e molecule". Brigl M, Brenner MB (2004). "CD1: antigen presentation and T cell function". Annu. Rev. ... The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to ...
Human leukocyte antigen
HLA genes are highly polymorphic, which means that they have many different alleles, allowing them to fine-tune the adaptive ... For example, a new allele of B44 may get a serotype (i.e. B44) and allele ID i.e. B*44:65, as it is the 65th B44 allele ... An HLA haplotype is a series of HLA "genes" (loci-alleles) by chromosome, one passed from the mother and one from the father. ... There are 3 major and 3 minor MHC class I genes in HLA. Major MHC class I HLA-A HLA-B HLA-C Minor genes are HLA-E, HLA-F and ...
... one expects 1/2 of adjacent genes to have new gene-alleles, unless the genes are small and very close together. This dynamic ... A multigene haplotype is set of inherited alleles covering several genes, or gene-alleles; common multigene haplotypes are ... DQ2 gene-alleles in coeliac disease cannot be excluded, either. For example, MICA and MICB are mhc class 1 genes found ... Two-point haplotype analysis between TNFB(B*01 allele) and HLA show that the allele is in linkage disequilibrium with HLA-A1, ...
The alleles of genes can either be dominant or recessive. A dominant allele needs only one copy to be expressed while a ... These paired genes that control the same trait is classified as an allele. In an individual, the allelic genes that are ... Chemical information that is transported and encoded by each gene is referred to as a trait. Many organisms possess two genes ... These inherited traits are passed down mechanistically with one gene from one parent and the second gene from another parent in ...
HLA A1-B8 haplotype
These gene-alleles are markers for a haplotype, a stretch of chromosome 6 that contains many gene alleles. In its natural ... A multigene haplotype is set of inherited alleles covering several genes, or gene-alleles; common multigene haplotypes are ... This disequilibrium made it appear that A1 and other class I gene-alleles were disease factors, when these alleles were only ... Two-point haplotype analysis between TNFB(B*01 allele) and HLA show that the allele is in linkage disequilibrium with HLA-A1, ...
The gene contains seven exons and six introns and the gene itself is over 18kb long. The alleles for A and B transferases are ... "Detection of common mutations in the GALT gene through ARMS". Gene. 509 (2): 291-4. doi:10.1016/j.gene.2012.08.010. PMID ... The Human Gene Compendium. Weizmann Institute of Science. Retrieved 2 December 2013. Moran, Lawrence. "Human ABO Gene". ... The ChAT gene is located on chromosome 10. Decreased expression of ChAT is one of the hallmarks of Alzheimer's disease. ...
... (DR1) is a HLA-DR serotype that recognizes the DRB1*01 gene products. The serology for the most commom DR1 alleles is ... 2005). "HLA-DRB1 alleles and Jk(a) immunization". Transfusion. 45 (6): 956-959. doi:10.1111/j.1537-2995.2005.04366.x. PMID ... Bonagura V, Vambutas A, DeVoti J, Rosenthal D, Steinberg B, Abramson A, Shikowitz M, Gjertson D, Reed E (2004). "HLA alleles, ... The serology for alleles *0104, *0106, *0109, *0110, *0112, *0115, and *0116 is unknown. DR1 is associated seronegative- ...
List of eponymous laws
These different copies of the same gene are called alleles. Mendel's second law, the law of independent assortment, states that ... Named after Gene Amdahl (1922-2015). Ampère's circuital law, in physics, relates the circulating magnetic field in a closed ... Mendel's first law, or the law of segregation, states that each organism has a pair of genes; that it inherits one from each ... parent, and that the organism will pass down only one of these genes to its own offspring. ...
A gene is only a DNA code sequence; the slightly different variations of that sequence are called alleles. Alleles can be ... Multiple alleles refers to the situation when there are more than 2 common alleles of a particular gene. Blood groups in humans ... Different phenotypic traits are caused by different forms of genes, or alleles, which arise by mutation in a single individual ... The inheritable unit that may influence a trait is called a gene. A gene is a portion of a chromosome, which is a very long and ...
Type 2 diabetes
All of these genes together still only account for 10% of the total heritable component of the disease. The TCF7L2 allele, ... There are a number of rare cases of diabetes that arise due to an abnormality in a single gene (known as monogenic forms of ... Most cases of diabetes involve many genes, with each being a small contributor to an increased probability of becoming a type 2 ... Most of the genes linked to diabetes are involved in pancreatic beta cell functions. ...
Quantitative trait locus
Several genes factor into determining a person's natural skin color, so modifying only one of those genes can change skin color ... A disease or syndrome may also be the result of the expression of mutant alleles at more than one locus. When more than one ... The DNA sequence of any genes in this region can then be compared to a database of DNA for genes whose function is already ... It may indicate that plant height is controlled by many genes of small effect, or by a few genes of large effect. ...
Hematopoietic stem cell transplantation
The HLA genes fall in two categories (Type I and Type II). In general, mismatches of the Type-I genes (i.e. HLA-A, HLA-B, or ... Even if there is a good match at these critical alleles, the recipient will require immunosuppressive medications to mitigate ... as members of the same ethnic group are more likely to have matching genes, including the genes for HLA. ... A mismatch of an HLA Type II gene (i.e. HLA-DR, or HLA-DQB1) increases the risk of graft-versus-host disease. In addition, a ...
Some genes may have two alleles with equal distribution. For other genes, one allele may be common, and another allele may be ... others have only one allele because deviation from that allele can be harmful or fatal. But most genes have two or more alleles ... A diploid organism is heterozygous at a gene locus when its cells contain two different alleles (one wild-type allele and one ... A cell is said to be homozygous for a particular gene when identical alleles of the gene are present on both homologous ...
This overall homozygosity becomes an issue when there are deleterious recessive alleles in the gene pool of the family. By ... s genes in the offspring. 87.5% of D3's genes would come from S, while D4 would receive 93.75% of their genes from S. ... that both alleles in one locus are derived from the same allele in an ancestor. These two identical alleles that are both ... Since they can be identical by descent by sampling the same allele or by sampling both alleles that happen to be identical by ...
"Mini-muscle" allele. A gene recently discovered in laboratory house mice, termed "mini-muscle", causes a 50% reduction in ... A study on seed beetles found that intralocus sexual conflict arises when selection for certain alleles of a gene that are ... Pleiotropy can have an effect on the evolutionary rate of genes and allele frequencies. Traditionally, models of pleiotropy ... Such a gene that exhibits multiple phenotypic expression is called a pleiotropic gene . Therefore mutation in a pleiotropic ...
The amelogenin gene has been most widely studied in humans, where it is a single copy gene, located on the X and Y chromosomes ... and between alleles of AMELY among different populations. This is because AMELY exists in the non-recombining region of ... Two bands of DNA, at 106bps and 112bps, are resolved if both the AMELX and AMELY versions of the gene are present (i.e. the ... Differences between the X chromosome and Y chromosome versions of the amelogenin gene (AMELX and AMELY respectively) enable it ...
Demographics of Brazil
"Allele frequencies of 15 STRs in a representative sample of the Brazilian population". Forensic Sci Int Genet. 4: e61-3. Feb ... Caucasoid genes account for 79% of the heritage of the people of São Paulo, 14% are of African origin, and 7% Native American.[ ... "Announcement of Population Data : Allele frequencies of 15 STRs in a representative sample of the Brazilian population" (PDF). ...
Mutation in the CACNA1C gene, the single-nucleotide polymorphism located in the third intron of the Cav1.2 gene, are ... Kempton MJ, Ruberto G, Vassos E, Tatarelli R, Girardi P, Collier D, Frangou S (Dec 2009). "Effects of the CACNA1C risk allele ... "Entrez Gene: voltage-dependent, L type, alpha 1C subunit".. *^ Narayanan D, Xi Q, Pfeffer LM, Jaggar JH (Sep 2010). " ... Gene ontology. Molecular function. • calcium channel activity. • metal ion binding. • voltage-gated ion channel activity. • ion ...
These are alleles that are normally rare in both species but, probably due to genetic hitchhiking on genes for hybrid fitness, ... Thus novel genes flow from either side into the hybrid zone. Genes can also flow back into the distinct populations through ... Inviability or sterility of hybrids forms a barrier to gene flow by making a 'hybrid sink' into which genes from parentals flow ... Statistical models suggest that neutral alleles flow across this barrier very slowly, while positively selected alleles move ...
分子演化 - 维基百科，自由的百科全书
NPM1 - Wikipédia, a enciclopédia livre
posttranscriptional regulation of gene expression. • negative regulation of gene expression. • regulation of centrosome ... Hale TK, Mansfield BC (1990). «Nucleotide sequence of a cDNA clone representing a third allele of human protein B23.». Nucleic ... 1995). «Construction of a human full-length cDNA bank.». Gene. 150 (2): 243-50. PMID 7821789. doi:10.1016/0378-1119(94)90433-2 ... Chen W, Rassidakis GZ, Medeiros LJ (2006). «Nucleophosmin gene mutations in acute myeloid leukemia.». Arch. Pathol. Lab. Med. ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele". DNA and ... it is encoded by the GAA gene. Errors in this gene cause glycogen storage disease type II (Pompe disease). ... This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. ...
Brain-derived neurotrophic factor
Kaplan AS, Levitan RD, Yilmaz Z, Davis C, Tharmalingam S, Kennedy JL (January 2008). "A DRD4/BDNF gene-gene interaction ... http://www.informatics.jax.org/searches/allele_report.cgi?_Marker_key=537∫:_Set_key=847156 ... Brain-derived neurotrophic factor (BDNF), or abrineurin, is a protein that, in humans, is encoded by the BDNF gene. ... Gene ontology. Molecular function. • receptor binding. • neurotrophin TRKB receptor binding. • growth factor activity. • GO: ...
1980). Genes of the BX-C regulate pattern formation in part of the thorax and in the abdomen, whereas different genes of the ... This protein is absent or reduced in embryonic extracts of nine of the 11 bcd alleles. The protein is concentrated in the ... Maternal-effect genes - subject to Maternal (cytoplasmic) inheritance *Egg-polarity genes establish the Anteroposterior axis.[ ... The gap genes act at the top of this regulatory hierarchy. Expression of the gap genes occurs in discrete domains along the ...
DNA paternity testing
Under the Gene Diagnostics Act of 2009, secret paternity testing is illegal. Any paternity testing must be conducted by a ... The test uses the STR alleles in mother and her child, other children and brothers of the alleged father, and deduction of ... However, while almost all individuals have a single and distinct set of genes, rare individuals, known as "chimeras", have at ... least two different sets of genes, which can result in a false negative result if their reproductive tissue has a different ...
2004). "Ethnic differences in allele distribution for the IL8 and IL1B genes in populations from eastern India". Hum. Biol. 76 ... resides in a gene cluster along with several other members of the platelet factor 4 gene superfamily". Hum. Genet. 84 (2): 185- ... "Entrez Gene: IL8 interleukin 8". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3576. ... "Nuclear factor-kappaB-dependent induction of interleukin-8 gene expression by tumor necrosis factor alpha: evidence for an ...
... and an allele of a gene to be studied (both on chromosomes bearing FRT sites). After induction of FLP expression, cells that ... they can be used to determine the tissue or cell type in which a given gene is required and to determine whether a gene is cell ... The FLP gene can then be induced selectively, commonly using either the heat shock promoter or the GAL4/UAS system. The ... The flip recombinase (or FLP) is a gene from the commonly studied yeast Saccharomyces cerevisiae which recognizes "flip ...
ஏபிஓ குருதி குழு முறைமை - தமிழ் விக்கிப்பீடியா
"The maximum frequency of the B gene occurs in Central Asia and northern India. The B gene was probably absent from American ... மாற்றுரு பல்வகைமை (allele diversity) யினால் ஏற்படக்கூடிய கூர்ப்பை உருவாக்கும் திறனானது, எதிர்மறை அதிர்வெண் சார்ந்த தேர்வாக ( ... Ogasawara K, Bannai M, Saitou N, et al. (1996). "Extensive polymorphism of ABO blood group gene: three major lineages of the ... the frequency of the B gene decreases almost everywhere ..." ... coding regoins of a gene) கொண்டுள்ளது, பின்னர் இது ஒரு ...
The queen shares half her genes with her sons and one-quarter with the sons of fertile female workers. This pits the worker ... Diploid drones may be produced if an egg is fertilized but is homozygous for the sex-determination allele. Drones take 24 days ... The worker shares half her genes with the drone and one-quarter with her brothers, favouring her offspring over those of the ... Workers would be related by three-quarters of their genes, and the difference in relationship between sons of the queen and ...
... whereas most bacteria possess heat shock genes hslV and hslU, whose gene products are a multimeric protease arranged in a two- ... Many MHC class I alleles prefer hydrophobic C-terminal residues, and the immunoproteasome complex is more likely to generate ... Accordingly, gene expression by degradation of transcription factors, such as p53, c-Jun, c-Fos, NF-κB, c-Myc, HIF-1α, MATα2, ... Sharp PM, Li WH (1987). "Ubiquitin genes as a paradigm of concerted evolution of tandem repeats". Journal of Molecular ...
Most Gitelman syndrome cases are linked to inactivating mutations in the SLC12A3 gene resulting in a loss of function of the ... Gitelman's syndrome is genetically inherited in an autosomal-recessive manner: one defective allele has to be inherited from ... He and his colleagues later cloned the gene responsible. ...
In this sense, epistasis can be contrasted with genetic dominance, which is an interaction between alleles at the same gene ... then gene A is epistatic and gene B is hypostatic. For example, the gene for total baldness is epistatic to the gene for brown ... Epistasis within genes. Just as mutations in two separate genes can be non-additive if those genes interact, mutations in ... The hair-colour genes are hypostatic to the baldness gene. The baldness phenotype supersedes genes for hair colour and so the ...
... is executed by autophagy-related (Atg) genes. The first autophagy genes were identified by genetic screens conducted ... Mutations of synuclien alleles lead to lysosome pH increase and hydrolase inhibition. As a result, lysosomes degradative ... and that at least 15 APG genes are involved in autophagy in yeast. A gene known as ATG7 has been implicated in nutrient- ... When the Beclin1 gene was altered to be heterozygous (Beclin 1+/-), the mice were found to be tumor prone. However, when ...
2008). "Gene Pool Structure of Russian Populations from the European Part of Russia Inferred from the Data on Y Chromosome ... allele under Q-MEH2. This study also reflects the results of some former studies (Sengupta 2006, Seielstad 2003). And, the ... "Gene Pool Differences between Northern and Southern Altaians Inferred from the Data on Y-Chromosomal Haplogroups". Genetika. 43 ... "The Himalayas as a Directional Barrier to Gene Flow". Am J Hum Genet. 80 (5): 884-894. doi:10.1086/516757. PMC 1852741. PMID ...
Ras manusia bahasa Indonesia, ensiklopedia bebas
Conventional geographic 'racial' groupings differ from one another only in about 6% of their genes. This means that there is ... "Estimating African American admixture proportions by use of population-specific alleles". Am J Hum Genet. 63 (6): 1839-1851. ... Marks, J (1995). Human biodiversity: genes, race, and history. New York: Aldine de Gruyter. ISBN 0-585-39559-4.. ... An empirical evaluation of some genetic methods for identifying the number of gene pools and their degree of connectivity". ...
Alleles and Genes | Physics Forums
I am trying to get some clarity on the concept of allele. Please let me know if my concepts are correct: Each human cell ( ... Different variants of a gene are called alleles. Thus, each individual has two alleles of every gene. These two alleles can be ... Allele - member of a single gene family. For one trait there can be several sets of alleles, maybe all different, for a ... Allele - member of a single gene family. For one trait there can be several sets of alleles, maybe all different, for a ...
Reducing resistance allele formation in CRISPR gene drive | PNAS
... preserves gene function); r2, type 2 resistance allele (disrupts gene function); r2m, mosaic for type 2 resistance allele; w, ... Simulated allele frequency trajectories of different gene drive systems. The panels show gene drive models inspired by our one- ... Reducing resistance allele formation in CRISPR gene drive. Jackson Champer, Jingxian Liu, Suh Yeon Oh, Riona Reeves, Anisha ... Reducing resistance allele formation in CRISPR gene drive. Jackson Champer, Jingxian Liu, Suh Yeon Oh, Riona Reeves, Anisha ...
Reducing resistance allele formation in CRISPR gene drive | PNAS
Reducing resistance allele formation in CRISPR gene drive. Jackson Champer, Jingxian Liu, Suh Yeon Oh, Riona Reeves, Anisha ... Reducing resistance allele formation in CRISPR gene drive. Jackson Champer, Jingxian Liu, Suh Yeon Oh, Riona Reeves, Anisha ... Reducing resistance allele formation in CRISPR gene drive. Jackson Champer, Jingxian Liu, Suh Yeon Oh, Riona Reeves, Anisha ... CRISPR homing gene drives can convert heterozygous cells with one copy of the drive allele into homozygotes, thereby enabling ...
CRISPR Verifies Risk Alleles, Improves Gene Editing | ALZFORUM
This kind of gene editing provides a powerful tool to study specific genes, their influence on cell function, and their role in ... By contrast, the risk allele for SNCA-Rep1 had no effect on expression. Further analysis revealed that the rs356168 risk allele ... and colleagues examined whether two GWAS-identified PD alleles upped expression of the α-synuclein gene (SNCA) in induced ... silencing the gene. Homology-directed repair (HDR), on the other hand, allows scientists to add genes. They do this by ...
Gene Expression: Alleles on the move?
Narrow Roads of Gene Land 1. Narrow Roads of Gene Land 2. Narrow Roads of Gene Land 3. Statistical Methods in Molecular ... Narrow Roads of Gene Land 1. Narrow Roads of Gene Land 2. Narrow Roads of Gene Land 3. Statistical Methods in Molecular ... Alleles on the move? posted by Razib @ 4/21/2007 01:03:00 AM Alleles on the move? ... The Math Gene. Explaining Culture. Origin and Evolution of Cultures. Dawn of Human Culture. The Origins of Virtue Prehistory of ...
A paternal-specific methylation imprint marks the alleles of the mouse H19 gene. - PubMed - NCBI
Imprinting, the differential expression of the two alleles of a gene based on their parental origin, requires that the alleles ... A paternal-specific methylation imprint marks the alleles of the mouse H19 gene.. Tremblay KD1, Saam JR, Ingram RS, Tilghman SM ... The maternally expressed H19 gene is hypermethylated on the inactive paternal allele in somatic tissues and sperm, but to serve ... We propose that paternal-specific methylation of the far 5 region is the mark that distinguishes the two alleles of H19. ...
A cladistic measure of gene flow inferred from the phylogenies of alleles. | Genetics
A cladistic measure of gene flow inferred from the phylogenies of alleles.. M Slatkin and W P Maddison ... A cladistic measure of gene flow inferred from the phylogenies of alleles.. M Slatkin and W P Maddison ... A cladistic measure of gene flow inferred from the phylogenies of alleles.. M Slatkin and W P Maddison ... A cladistic measure of gene flow inferred from the phylogenies of alleles. ...
What is the difference between gene and allele??
An allele is a different form of the same gene. Genes are DNA sub units which code for a particular protein or trait.. Take the ... I could not find any definition that would really explain what an allele is, but this is understandable enough.... A gene codes ... If the flower can be either red or white then it will have 2 alleles for the colour gene. ... petal colour gene of flowers. It determines the colouur of the flower. ...
Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder. - PubMed - NCBI
Prevalence of Huntingtons disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.. Ramos EM1,2, ... HTT CAG allele sizes from 2,229 Caucasian individuals diagnosed with DSM-IV bipolar disorder were compared to allele sizes in ... and psychiatric symptoms that are caused by huntingtin gene (HTT) CAG trinucleotide repeat alleles of 36 or more units. A ... We found that HTT CAG repeat alleles , 35 units were observed in only one of 4,458 chromosomes from individuals with bipolar ...
JCI - Susceptible MHC alleles, not background genes, select an autoimmune T cell reactivity
Susceptible MHC alleles, not background genes, select an autoimmune T cell reactivity. ... Susceptible MHC alleles, not background genes, select an autoimmune T cell reactivity. ... are also observed in mouse lines that share with NOD the H-2g7 MHC haplotype but carry diabetes-resistance background genes. ...
Allele in Stress Reaction-linked Gene Associated with Cardiovascular Events, Death | GenomeWeb
A certain polymorphism in the stress-linked serotonin 2C receptor gene is linked to an increased risk of cardiovascular disease ... Allele in Stress Reaction-linked Gene Associated with Cardiovascular Events, Death Dec 19, 2013 ... Home » Allele in Stress Reaction-linked Gene Associated with Cardiovascular Events, Death ... NEW YORK (GenomeWeb Daily News) - A certain polymorphism in the stress-linked serotonin 2C receptor gene is linked to an ...
Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss | Nature Medicine
... that selectively and efficiently disrupted the mutant allele, but not the wild-type Tmc1/TMC1 allele, in Beethoven mice and in ... As a model for DFNA36, we used Beethoven mice5, which harbor a point mutation in Tmc1, a gene required for hearing that encodes ... Screening of Cas9 and gRNA combinations identifies the variant SaCas9-KKH that selectively disrupts the mutant Tmc1/TMC1 allele ... explored gene editing strategies to disrupt dominant mutations efficiently and selectively without affecting wild-type alleles ...
PRIME PubMed | Generation of novel conditional and hypomorphic alleles of the Smad2 gene
Generation of novel conditional and hypomorphic alleles of the Smad2 gene. Download Prime PubMed App to iPhone, iPad, or ... Generation of an Frs2alpha conditional null allele.. *Conditional (loxP-flanked) allele for the gene encoding the retinoic acid ... "Generation of Novel Conditional and Hypomorphic Alleles of the Smad2 Gene." Genesis (New York, N.Y. : 2000), vol. 40, no. 2, ... In this allele, exons 9 and 10 are flanked by loxP sites and the gene is functionally wildtype. Cre-mediated recombination ...
What's the difference between an allele and a gene? | eNotes
Whats the difference between an allele and a gene? and find homework help for other Science questions at eNotes ... How do the genes decide which allele to choose? Alleles can be dominant or recessive. Brown eyes are a dominant trait, so if ... So, your genes determine that youll have hair and blood and eyes. The alleles are specialized genes that determine the unique ... An allele is a type of gene which defines the possible variations of those traits in that specific organism. ...
Steve Sailer: iSteve: The Dynastic Gene (megalomania allele)
Third: send money via the Paypal-like Google Wallet to my Gmail address (thats isteveslrATgmail.com -- replace the AT with a @). (Non-tax deductible.). Heres the Google Wallet FAQ. From it: "You will need to have (or sign up for) Google Wallet to send or receive money. If you have ever purchased anything on Google Play, then you most likely already have a Google Wallet. If you do not yet have a Google Wallet, dont worry, the process is simple: go to wallet.google.com and follow the steps." You probably already have a Google ID and password, which Google Wallet uses, so signing up Wallet is pretty painless.. You can put money into your Google Wallet Balance from your bank account and send it with no service fee. Or you can send money via credit card (Visa, MasterCard, AmEx, Discover) with the industry-standard 2.9% fee. (You dont need to put money into your Google Wallet Balance to do this.). Google Wallet works from both a website and a smartphone app (Android and iPhone -- the Google Wallet ...
ABO BLOOD GROUP SYSTEM LECTURE SLIDE 004: Bernstein proposed the one gene locus-three alleles model in 1924. - blood group abo
JCI - Gene therapy by allele selection in a mouse model of beta-thalassemia
Mice heterozygous for a deletion of both adult globin genes (Hbb-b1 and Hbb-b2 genes; mutant allele termed Hbbth-4) are ... Gene therapy by allele selection in a mouse model of beta-thalassemia. Sigrid Eckardt,1 N. Adrian Leu,2 Ashley Yanchik,2 Seigo ... either homozygous for the normal Hbb allele (Hbb-b1 and Hbb-b2 genes; termed Hbb+), Hbbth-4 homozygous, or Hbb+ and Hbbth-4 ... Gene therapy via the introduction of a therapeutic gene into target tissues, typically by virus-mediated transfer, has, despite ...
The Insertion Allele of the ACE Gene I/D Polymorphism | Circulation
The Insertion Allele of the ACE Gene I/D Polymorphism. A Candidate Gene for Insulin Resistance?. Arshia Panahloo, Christine ... The Insertion Allele of the ACE Gene I/D Polymorphism. Arshia Panahloo, Christine Andrès, Vidya Mohamed-Ali, Mairi M. Gould, ... The Insertion Allele of the ACE Gene I/D Polymorphism. Arshia Panahloo, Christine Andrès, Vidya Mohamed-Ali, Mairi M. Gould, ... We tested the hypothesis that the deletion allele of the ACE gene is associated with insulin resistance. ...
HMOX1 Gene Promoter Alleles and High HO-1 Levels Are Associated with Severe Malaria in Gambian Children
Random monoallelic expression of autosomal genes: stochastic transcription and allele-level regulation
... of genes represents a striking example of how stochastic molecular processes can result in cellular heterogeneity. Recent ... Random monoallelic expression of autosomal genes: stochastic transcription and allele-level regulation Nat Rev Genet. 2015 Nov; ... Random monoallelic expression (RME) of genes represents a striking example of how stochastic molecular processes can result in ...
Is Allele 334 An 'Infidelity' Gene For Men? | Science 2.0
Variation in the gene for one of the receptors for the hormone vasopressin appears to be associated with how human males bond ... Variation in the gene for one of the receptors for the hormone vasopressin appears to be associated with how human males bond ... more who have one or two copies of allele 334 appear to be less bonded to their partners than men with other forms of this gene ... They also report that men who carried two copies of allele 334 were more than twice as likely to report serious marital or ...
Alleles and gene, are they same? - Biology-Online
A gene is a location on the DNA that codes for a protein. An allele is one possibility for that gene. For example, if there ... were one gene for eye color, then blue eyes would be one allele, and brown eyes another allele for the same gene. I think. I ... Alleles and gene, are they same?. Genetics as it applies to evolution, molecular biology, and medical aspects. ... hi! im confuse between alleles and gene. are they same? what is test-cross and what is it function? ...
Base-Pairing Requirements for Small RNA-Mediated Gene Silencing of Recessive Self-Incompatibility Alleles in Arabidopsis...
Gene Expression. *. Modular Organization of Cis-regulatory Control Information of Neurotransmitter Pathway Genes in ... Base-Pairing Requirements for Small RNA-Mediated Gene Silencing of Recessive Self-Incompatibility Alleles in Arabidopsis ... Base-Pairing Requirements for Small RNA-Mediated Gene Silencing of Recessive Self-Incompatibility Alleles in Arabidopsis ... Base-Pairing Requirements for Small RNA-Mediated Gene Silencing of Recessive Self-Incompatibility Alleles in Arabidopsis ...
PRIME PubMed | [Genetic association between the apolipoprotein E (ApoE) gene alleles and various forms of Alzheimer's disease
... gene alleles and various forms of Alzheimers disease were found in PRIME PubMed. Download Prime PubMed App to iPhone or iPad. ... Allele epsilon 4 of the apolipoprotein E (APOE) gene is associated with higher risk of Alzheimers disease (AD) in many, though ... Genetic Association Between the Apolipoprotein E (ApoE) Gene Alleles and Various Forms of Alzheimers Disease]. Genetika. 2001; ... Genetic association between the apolipoprotein E (ApoE) gene alleles and various forms of Alzheimers disease].. Genetika 2001 ...
Chromosome Gene Allele Cookbook Analogy Short Reading and Questions
... genes, and alleles. One of the most common misconceptions students have when studying genetics is the difference between a gene ... One of the most common misconceptions students have when studying genetics is the difference between a gene and an allele. So ... and an allele. So often teachers try to explain an allele as a version of a gene. ... often teachers try to explain an allele as a version of a gene. ... Chromosome Gene Allele Cookbook Analogy Short Reading and ...
Allele Frequency Calculator | Gene Frequency Calculation using Hardy-Weinberg Equation
It is also referred to as gene frequency. ... allele frequency is used to reflect the genetic diversity of a ... Hardy-Weinberg Equation can be used to find the frequency of the gene / allele. Use this online calculator to estimate the ... Hardy-Weinberg Equation can be used to find the frequency of the gene / allele. Use this online calculator to estimate the ... It is also referred to as gene frequency. It is a measure of relative frequency of a gene on a genetic locus in a population. ...
Sandwalk: Debating philosophers: The difference between genes and alleles
Usually gene is a appropriate. Dominant gene, recessive gene, gene frequences, ancestral genes, gene for X - and so on - ... Its not really "gene" frequencies that change; its allele frequencies where alleles are gene variants that are created by ... So you would use gene locus instead of gene and gene instead of allele. Something tells me this is not going to clear ... There may be no alleles, two alleles, or dozens of alleles for each gene in the population. Theres no confusion, in my opinion ...
Genes | Free Full-Text | Rediscovery of Red Wolf Ghost Alleles in a Canid Population Along the American Gulf Coast
We report the rediscovery of red wolf ghost alleles in a canid population on Galveston Island, Texas. We analyzed over 7000 ... Bayesian cluster assignments of the Galveston canids to captive red wolves with extensive sharing of red wolf private alleles. ... Keywords: allele sharing; coyotes; ghost alleles; RADseq; red wolves; remnant genomes allele sharing; coyotes; ghost alleles; ... "Rediscovery of Red Wolf Ghost Alleles in a Canid Population Along the American Gulf Coast." Genes 9, no. 12: 618. ...
The late flowering phenotype of fwa mutants is caused by gain-of-function epigenetic alleles of a homeodomain gene
The DNA sequence of wild-type and fwa mutant alleles … ... by gain-of-function epigenetic alleles of a homeodomain gene ... The DNA sequence of wild-type and fwa mutant alleles was identical in the genomic region of FWA. Furthermore, the FWA gene is ... This silencing is associated with extensive methylation of two direct repeats in the 5 region of the gene. The late flowering ...
Gene expression in connection with allele and chromosomes [Archive] - Eupedia Forum
So, gene A is on the chromosome from mother and the same gene is on chromosome from father. The difference is in alleles, a ... Those two chromosomes which form a pair are similar in respect of the genes. ... number of alternative forms of the same gene or same genetic locus. ... I have some problems with understanding of the gene expression in respect of different alleles and homologous chromosomes. We ...
MutationsMutant alleleChromosomeDeletionGeneticsGenomeAllelicCharacterizationVariantsAbstractResistance allelesInactivationMRNAEncodeAnother alleleExonsConditional alleleLethalMinor alleleProteinsHuntingtinSuppressRisk of Alzheimer's diseaseCopiesHypomorphicChromatin organizationGenomicDrosophilaSilencingCohort
- These scientists introduced one or two copies of APP and presenilin FAD mutations into stem cells and found that cortical neurons derived from those cells had Aβ profiles that matched the gene dose. (alzforum.org)
- Fig. 4: Allele-specific targeting of human DFNA36 and human dominant mutations potentially targetable with SaCas9 and SaCas9-KKH. (nature.com)
- Are you looking for an activity to really help your students understand alleles, mutations, and how genetics really works? (teacherspayteachers.com)
- The antigens are ribosomal proteins altered by somatic tumor-specific point mutations, and the progressor (PRO) variants lack the corresponding normal alleles. (rupress.org)
- In the second tumor, 6139B-PRO, both alleles of the L26 gene have point mutations, and each encodes a different tumor-specific CD4 + T cell-recognized antigen. (rupress.org)
- Tumor antigens are encoded by genes that are either normal but aberrantly expressed or overexpressed ( 1 )( 2 ), or altered as the result of cancer-specific somatic mutations ( 3 )( 4 )( 5 ). (rupress.org)
- Homozygous mutations in ZNF469 and PR domain-containing protein 5(PRDM5) genes result in brittle cornea syndrome (BCS) Types 1 and 2, respectively. (epfl.ch)
- As the underlying pathogenic events in these disorders are dominant gene mutations, simply reducing mutant allele expression may be therapeutic. (fitness-vip.com)
- Loss-of-function contributions to dominant disease can be predicted from knockout mouse models and by examining genetic case studies, in which different mutations in the same gene give rise to dominant and recessive myopathies. (fitness-vip.com)
- 1998). These observations support two conclusions: only one normal TPM3 allele is required to maintain normal muscle, and gain-of-function TPM3 mutations are most likely the sole pathogenic event in dominant NM forms. (fitness-vip.com)
- As many dominant myopathies are caused by single point mutations in one allele, the question arises: can inhibitory RNAs be designed to distinguish two transcripts differing by 1 base-pair? (fitness-vip.com)
- The syndromic HSCR entities studied were congenital central hypoventilation (CCHS) and Mowat-Wilson syndrome (MWS), caused by PHOX2B and ZFHX1B gene mutations, respectively. (bmj.com)
- Dominant and recessive mutations at the SSN20 locus were previously isolated as extragenic suppressors of mutations in three genes (SNF2, SNF5, and SNF6) that are required in trans to derepress invertase expression. (asm.org)
- Increased or decreased gene dosage of SSN20 also suppressed defects that are suppressed by ssn20 missense mutations. (asm.org)
- Recently, four rad59 missense alleles were found to have distinct effects on homologous recombination that are consistent with separation-of-function mutations. (altmetric.com)
- Hpr1p has two regions of homology to topoisomerase I, Top1p ( 3 , 40 ), and hpr1 Δ mutants display synthetic lethality with mutations in all three DNA topoisomerase genes, TOP1 , TOP2 , and TOP3 ( 3 ). (asm.org)
- In hpr1 Δ null mutants, transcription of many physiologically unrelated genes is affected ( 44 ) and the temperature-sensitive growth phenotype of hpr1 Δ mutants is suppressed by mutations in components of the general transcription machinery ( 12 , 27 , 41 ). (asm.org)
- We have analyzed the ability of A165V, V169I/D170N, and P536L mutations to suppress pma1 dominant lethal alleles and found that the P536L mutation is able to suppress the dominant lethality of the pma1-R271T, -D378N, -D378E, and -K474R mutant alleles. (csic.es)
- This evidence led us to hypothesize that the Ggt1 gene is responsible for dwg and dwg Bayer mutations. (deepdyve.com)
- In this study we characterized dwg mutations by investigating their association with the Ggt1 gene. (deepdyve.com)
- To identify the causative mutations of dwg mutations, we analyzed the Ggt1 gene in dwg/dwg and dwg Bayer /dwg Bayer mice. (deepdyve.com)
- These results indicate that both dwg and dwg Bayer have defective mutations of the Ggt1 gene. (deepdyve.com)
- Thus, we concluded that mutations in the Ggt1 gene are responsible for the phenotypes of dwg/dwg and dwg Bayer /dwg Bayer mice. (deepdyve.com)
- Putative "driver" mutations in genes encoding splicing factors---including recurrent mutations in U2AF1, which encodes a component of the U2 auxiliary factor to regulate pre-mRNA splicing---have been identified in myeloid dysplasias, related neoplasms, and lung adenocarcinomas. (aacrjournals.org)
- To study the functional impact of U2AF1 mutations, we have created transgenic mice carrying a conditional mutant allele, MG-S34F, at the endogenous U2AF1 locus. (aacrjournals.org)
- Our analysis identified families with heterozygous, deleterious mutations in the DNA repair genes FANCC and BLM , which are responsible for the autosomal recessive disorders Fanconi Anemia and Bloom syndrome. (prolekare.cz)
- In total, screening of all exons in these genes in 438 breast cancer families identified three with truncating mutations in FANCC and two with truncating mutations in BLM . (prolekare.cz)
- Given the rarity of Fanconi Anemia and Bloom syndrome disorders among Caucasian populations, the finding of multiple deleterious mutations in these critical DNA repair genes among high-risk breast cancer families is intriguing and suggestive of a predisposing role. (prolekare.cz)
- Our data demonstrate the utility of intra-family exome-sequencing approaches to uncover cancer predisposition genes, but highlight the major challenge of definitively validating candidates where the incidence of sporadic disease is high, germline mutations are not fully penetrant, and individual predisposition genes may only account for a tiny proportion of breast cancer families. (prolekare.cz)
- In the mid 1990s, a classical linkage approach identified germline mutations in two genes, BRCA1 and BRCA2 , which are associated with a high risk of developing both breast and ovarian cancer , . (prolekare.cz)
- Importantly, the identification and management of individuals with high-risk breast cancer predisposition gene mutations is now well accepted in clinical practice. (prolekare.cz)
- Through a candidate gene approach, mutations in other high and moderate penetrance cancer-susceptibility genes have been identified in a further small proportion of families but the underlying etiology of the increased susceptibility to breast cancer in the majority of multi-case breast cancer families remains unknown. (prolekare.cz)
- No inherited disease-causing mutations have been identified in the genes located in the 42.5 kb minimal region. (ovid.com)
- During this Ask the Expert segment, leading myeloproliferative neoplasm (MPN) expert Dr. Joseph Scandura, from Weill Cornell Medicine, explains what an allele burden is and how it relates to genetic mutations, why it's important for doctors to know and how it's assessed. (patientpower.info)
- Allele-specific expression can occur for various biological reasons, such as gene imprinting, or differential transcription caused by mutations, or single nucleotide polymorphisms (SNPs), or epigenetic alterations. (bitesizebio.com)
- They are usually a result of mutations in genes that are essential to growth or development. (wikipedia.org)
- We identified a PAM variant of Staphylococcus aureus Cas9 (SaCas9-KKH) that selectively and efficiently disrupted the mutant allele, but not the wild-type Tmc1/TMC1 allele, in Beethoven mice and in a DFNA36 human cell line. (nature.com)
- Fig. 7.3 Hypothetical example of mutant allele-specific Cav-3 targeting. (fitness-vip.com)
- The purpose of this study was to apply the mutant-allele tumor heterogeneity (MATH) algorithm to reveal the relationship between ITH and clinical features, and to use weighted gene co-expression network analysis (WGCNA) to search hub genes. (begellhouse.com)
- Clinical and molecular relevance of mutant-allele tumor heterogeneity in breast cancer. (begellhouse.com)
- This indicated that the yellow mutation is dominant, and all the parental yellow mice were heterozygotes for the mutant allele. (wikipedia.org)
- Homozygous offspring for the mutant allele cannot survive birth and are therefore not seen in these crosses. (wikipedia.org)
- The letters in this alphabet are just 4: A,C,G,T. Does that mean that the position (locus) of a sentence (gene) in the chapter (chromosome) attributes a specific task (determines a specific physical trait) to that sentence even if the words in that sentence are different (codons, allele)? (physicsforums.com)
- Alleles are in a specific locus (place) on a specific chromosome. (physicsforums.com)
- If the gene only exists on one chromosome at one single locus, every human has that one gene in the same place. (physicsforums.com)
- Each of these sections contains two alleles (one from each parent's chromosome), and here's where the variations occur: the gene in the eye-color section may have one allele for blue eyes and another for brown eyes. (enotes.com)
- So, gene A is on the chromosome from mother and the same gene is on chromosome from father. (eupedia.com)
- If there is a mutation on mother's chromosome, the healthy allele from father's chromosome will be expressed as well as a faulty allele from mother. (eupedia.com)
- But still two chromosomes will be expressed, meaning, the gene from mother's chromosome and father's chromosome will be expressed. (eupedia.com)
- A major locus for high blood pressure (BP/SP1) is located on rat chromosome 10, which contains the rat angiotensin-converting enzyme gene ( ACE ) locus, according to several rat crosses between a genetically hypertensive rat strain and normotensive controls. (ahajournals.org)
- The tumor lacks the normal L9 allele because of an interstitial deletion from chromosome 5. (rupress.org)
- About 15% of X chromosome genes escape X inactivation. (coursehero.com)
- These genes are also present on the Y chromosome, so no dosage compensation for these is normally needed If one X is inactivated anyway, why XXY individuals are not completely healthy? (coursehero.com)
- Genetic mapping of SSN20 to a locus on chromosome VII 10 centimorgans distal to cly8 led to the finding that SSN20 is the same gene as SPT6, which affects expression of delta insertions in the 5' noncoding region of HIS4 (F. Winston, D. T. Chaleff, B. Valent, and G. R. Fink, Genetics 107:179-197, 1984). (asm.org)
- Both the dwg locus and Ggt1 gene are localized on mouse chromosome 10, and the phenotypes of GGT1-deficient mice with targeted disruption of the Ggt1 gene show remarkable similarities with those of dwg/dwg and dwg Bayer /dwg Bayer mice. (deepdyve.com)
- X inactivation involves sequential alterations to the chromatin that ultimately lead to the transcriptional repression of genes on the X chromosome. (cnrs.fr)
- On the expressed allele of XIST (on the inactive X chromosome), we found that H3 acetylation is confined to the promoter, whereas H3 lysine 4 methylation and H4 acetylation are present along the entire gene. (cnrs.fr)
- At only 1.5 kb upstream of the XIST gene, chromatin on the inactive X chromosome has strongly reduced levels of H4 acetylation and is marked by both H3 lysine 9 and H3 lysine 4 methylation. (cnrs.fr)
- In diploid organism, the two corresponding genes in a chromosome pair (homologous chromosome) are referred as alleles. (biostars.org)
- An association of the dopamine receptor D4 (DRD4) gene located on chromosome 11p15.5 and attention deficit/hyperactivity disorder (ADHD) has been demonstrated and replicated by multiple investigators. (escholarship.org)
- A gene is an ordered sequence of nucleotides located in a particular position on a particular chromosome that encodes a specific functional product (i.e., a protein or RNA molecule). (google.com)
- The HLA region on chromosome 6 is gene-rich and under selective pressure because of the high proportion of immunity-related genes. (ox.ac.uk)
- A person exhibits Huntington's disease when they carry a single copy of a repeat-expanded Huntingtin allele on chromosome 4. (wikipedia.org)
- Gene inactivation and reporter expression is achieved through Cre-mediated stable inversion of an integrated gene-trap reporter, whereas inducible gene restoration is afforded by Flp-dependent deletion of the inverted gene trap. (mit.edu)
- Cre-mediated recombination results in a deletion allele which phenocopies our previously reported Smad2(DeltaC) null mutation. (unboundmedicine.com)
- We tested the hypothesis that the deletion allele of the ACE gene is associated with insulin resistance. (ahajournals.org)
- A fourth synthetic lethal interaction has been found between hpr1 Δ and a mutant carrying a deletion of one copy of the histone H3-H4 genes ( 10 ). (asm.org)
- Furthermore, dwg Bayer /dwg Bayer mice had a 46.7-kb deletion containing complete coding sequences of Ggt1 and AI646023 genes and the first exon of the Ggt5 gene, which is closely related to the Ggt1 gene as a member of the GGT gene family. (deepdyve.com)
- In Pex11β -deficient mice, we observed that the deletion of a single allele of the Pex11β gene ( Pex11β +/− heterozygous mice) caused cell death in primary neuronal cultures prepared from the neocortex and cerebellum, although to a lesser extent as compared with the homozygous-null animals ( Pex11β −/− mice). (biologists.org)
- Deletion of one allele of the Pex11β gene slightly increased the abundance of peroxisomes, whereas the deletion of both alleles caused a 30% reduction in peroxisome number. (biologists.org)
- In conclusion, we report the alterations in the brain caused by the deletion of a single allele of the Pex11β gene. (biologists.org)
- An 8-nucleotide deletion in the 5′ untranslated region (UTR) of the gene was found to be associated with essential hypertension and left ventricular hypertrophy in a study of 200 hypertensive (HT) and 200 normotensive (NT) subjects. (ahajournals.org)
- Carriers of the functional deletion ( D ) allele had higher plasma BNP levels, a strong marker of cardiac stress, than those with the wild-type allele. (ahajournals.org)
- Expression of NPR-A from the D allele was reduced compared with the wild-type allele and it is suggested that the deletion interferes with binding of regulatory factors to the 5′ UTR of the gene. (ahajournals.org)
- Nakayama T, Soma M, Takahashi Y, Rehemudula D, Kanmatsuse K, Furuya K. Functional deletion mutation of the 5′-flanking region of type A human natriuretic peptide receptor gene and its association with essential hypertension and left ventricular hypertrophy in the Japanese. (ahajournals.org)
- The system is reliant on the initial creation of a pyrE deletion mutant, using Allele Coupled Exchange (ACE), that is auxotrophic for uracil and resistant to fluoroorotic acid (FOA). (nottingham.ac.uk)
- One of the most common misconceptions students have when studying genetics is the difference between a gene and an allele. (teacherspayteachers.com)
- The word is a short form of allelomorph ('other form'), which was used in the early days of genetics to describe variant forms of a gene detected as different phenotypes. (biology-online.org)
- The model incorporates -matching-allele- (MA) genetics for detection and -gene-for-gene- (GFG) genetics for eradication. (royalsocietypublishing.org)
- We found that the oscillatory dynamics were similar to pure GFG genetics when the cost of 'virulence' alleles was low, but resembled pure MA genetics when the cost was high. (royalsocietypublishing.org)
- From a formal genetics point of view technically speaking a "gene" is an abstract concept defined as a unit of inheritance: something that obeys Mendel's laws. (biostars.org)
- Genetics 101 (Part 1 of 5): What are genes? (google.com)
- Genetics: From Genes to Genomes. (wikipedia.org)
- New versions of the CRISPR/Cas9 gene-editing system allow researchers to alter the eukaryotic genome more precisely and efficiently than ever before. (alzforum.org)
- Despite the data on the ability of L1 and Alu elements to cause various modifications of the genome, the effects of these retroelements on gene expression have yet not been studied. (nih.gov)
- Most breast cancer (BC) risk-associated single-nucleotide polymorphisms (raSNPs) identified in genome-wide association studies (GWAS) are believed to cis-regulate the expression of genes. (aspic.pt)
- To test this, we adapted two miRNA-binding prediction algorithms-TargetScan and miRanda-to perform allele-specific queries, and integrated differential allelic expression (DAE) and expression quantitative trait loci (eQTL) data, to query 150 genome-wide significant (P≤5×10−8) raSNPs, plus proxies. (aspic.pt)
- No, gene is a part of DNA, let's say nucleotides 1120-2310 in E.coli genome, no matter, what is in there. (biology-online.org)
- Crucially, wild-type copies of the inactivated gene may be introduced into the genome using ACE concomitant with correction of the pyrE allele. (nottingham.ac.uk)
- We hypothesize that this bodycondition- associated reproductive advantage increases the fitness of alleles that negatively affect male body condition, causing genome-wide positive selection of these alleles. (up.ac.za)
- We examined LD in this important region of the genome in six European populations using 166 putatively neutral SNPs and the classical HLA-A, -B and -C gene alleles. (ox.ac.uk)
- A range of strong additive allelic effects for kernel starch, protein, and oil content were identified relative to the B73 allele. (g3journal.org)
- These accessions harbor allelic variants of agronomically important genes and molecular tools allow a rapid assessment of this allelic diversity. (uzh.ch)
- Susceptible allelic variants of Pm3 were found to be widespread in the wheat gene pool. (uzh.ch)
- Here, we show ASP-RNAi against the Swedish- and London-type amyloid precursor protein (APP) variants related to familial Alzheimer's disease using two reporter alleles encoding the Photinus and Renilla luciferase genes and carrying mutant and wild-type allelic sequences in their 3'- untranslated regions. (alliedacademies.org)
- We also show that the promoter is hypermethylated in sporadic oesophageal cancer samples: this may constitute the 'second hit' of a gene previously implicated in this disease by allelic imbalance studies. (ovid.com)
- This enables the subsequent modification of target genes by allelic exchange using a heterologous pyrE allele from Clostridium sporogenes as a counter-/negative-selection marker in the presence of FOA. (nottingham.ac.uk)
- In some cases, the gene for a particular trait comes in many variants, called alleles, in some cases only in two. (physicsforums.com)
- By figuring out how the risk variants influence genes, it might be possible come up with new therapeutic targets, he said. (alzforum.org)
- For example, variants in regulatory regions are arguably not part of genes but are very important in evolution. (blogspot.com)
- Variants in DNA sequences at the sites of centromeres, telomeres, SARs, origins of replication, and even junk DNA can be relevant in evolution and these are not "genes" in any reasonable sense of the word. (blogspot.com)
- Tumor antigens, whether encoded by normal or mutant genes, may be lost by more malignant variants that arise during tumor progression in mice ( 11 )( 12 )( 13 )( 14 )( 15 )( 16 ). (rupress.org)
- We hypothesise that cis-regulatory variants contributing to disease risk may be affecting microRNA (miRNA) genes and/or miRNA binding. (aspic.pt)
- Alleles are the variants, which can occur in there. (biology-online.org)
- 1. There is evidence to suggest that essential hypertension is a polygenic disorder and that it arises from yet-to-be-identified predisposing variants of certain genes that influence blood pressure. (clinsci.org)
- Cloning and analysis of PCR products showed that different bla SHV variants existed in cis with individual promoters in individual isolates but that mutant genes were more abundant downstream of the IS 26 promoter. (asm.org)
- salvar Salvar ACTN3 R577X and ACE I/D gene variants influence pe. (scribd.com)
- Background: To date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants and elite sprint/power performance have been limited by small cohorts from mixed sport disciplines, without quantitative measures of performance. (scribd.com)
- Conclusions: Despite sprint performance relying on many gene variants and environment, the % sprint time variance explained by ACE and ACTN3 is substantial at the elite level and might be the difference between a world record and only making the final. (scribd.com)
- The fraction above the black bar specifies those resistance alleles in the two-gRNA drive in which the intermediate sequence between the two target sites was deleted. (pnas.org)
- However, all CRISPR homing gene drives studied in insects thus far have produced significant quantities of resistance alleles that would limit their spread. (pnas.org)
- We further show that an autosomal drive can achieve drive conversion in the male germline, with no subsequent formation of resistance alleles in embryos through paternal carryover of Cas9. (pnas.org)
- We validate our approach by targeting the p53 and Rb genes and establishing cell line and in vivo cancer model systems, to study the impact of p53 or Rb inactivation and restoration. (mit.edu)
- This new mouse model is of particular interest as it will allow time- and tissue-specific inactivation of the Lamal gene in various organs. (lu.se)
- However, not a whole haplome is inactivated but a more or less random inactivation of alleles varying between individuals and even between organs of the same fish was seen. (uni-wuerzburg.de)
- We used a human P23H (hP23H) transgenic pig model of adRP to evaluate an allele-specific knock out strategy of the hP23H mutant sequence and determined if its inactivation (targeted gene knockout) could be a therapeutic intervention for adRP. (arvojournals.org)
- We showed for the first time a tissue-specific decrease in the pre-mRNA content of the gene allele bearing L1 or Alu inserts relative to the other allele of the same gene lacking the retroelement. (nih.gov)
- mRNA (messenger RNA) pair binding stability in five candidate target genes. (aspic.pt)
- not all inhibitory RNAs containing perfect homology with a target mRNA actually cause gene silencing. (fitness-vip.com)
- hpr1 Δ was also synthetically lethal with a previously isolated, temperature-sensitive allele of ACC1 , mtr7 (mRNA transport), indicating that the lethality of the acc1 cs hpr1 Δ double mutant was not allele specific. (asm.org)
- In dwg/dwg mice, 13 nucleotides on exon 7 of the Ggt1 gene were deleted, resulting in the generation of aberrant transcripts due to disrupted pre-mRNA splicing. (deepdyve.com)
- tritici race QCCJ-susceptible lines (Swiss landraces Hv 489, Hv 492, and Hv 611) and the wild barley accession WBDC160 contain rpg5 alleles predicted to encode full-length proteins containing a nonsynonomous nucleotide substitution that results in the amino acid substitution E1287A. (apsnet.org)
- In light of the advances in molecular and cellular biology since then, a succinct modern view of the question states: how do genes encode geometry? (biologists.org)
- In this study we cloned the SSN20 gene, identified a 4.6-kilobase poly(A)-containing RNA, and showed that disruption of the gene is lethal in a haploid cell. (asm.org)
- In a screen for mutants that display synthetic lethal interaction with hpr1 Δ, a hyperrecombination mutant of Saccharomyces cerevisiae , we have isolated a novel cold-sensitive allele of the acetyl coenzyme A (CoA) carboxylase gene, acc1 cs , encoding the rate-limiting enzyme of fatty acid synthesis. (asm.org)
- Proteins encoded by dominant lethal pma1 alleles are retained in the endoplasmic reticulum, thus interfering with transport of wild-type Pma1. (csic.es)
- Lethal alleles (also referred to as lethal genes or lethals) are alleles that cause the death of the organism that carries them. (wikipedia.org)
- Lethal alleles may be recessive, dominant, or conditional depending on the gene or genes involved. (wikipedia.org)
- Lethal alleles can cause death of an organism prenatally or any time after birth, though they commonly manifest early in development. (wikipedia.org)
- Lethal alleles were first discovered by Lucien Cuénot in 1905 while studying the inheritance of coat colour in mice. (wikipedia.org)
- This was the first documented example of a recessive lethal allele. (wikipedia.org)
- A pair of identical alleles that are both present in an organism that ultimately results in death of that organism are referred to as recessive lethal alleles. (wikipedia.org)
- One mutant lethal allele is tolerated, but having two results in death. (wikipedia.org)
- If two cystic fibrosis carriers have children, they have a 25 percent chance of producing offspring having two copies of the lethal allele, eventually resulting in the death of the child. (wikipedia.org)
- Another example of a recessive lethal allele occurs in the Manx cat. (wikipedia.org)
- Alleles that need only be present in one copy in an organism to be fatal are referred to as dominant lethal alleles. (wikipedia.org)
- These alleles are not commonly found in populations because they usually result in the death of an organism before it can transmit its lethal allele on to its offspring. (wikipedia.org)
- An example in humans of a dominant lethal allele is Huntington's disease, a rare neurodegenerative disorder that ultimately results in death. (wikipedia.org)
- tritici race QCCJ-susceptible barley lines contain alleles that either code for predicted truncated proteins as the result of a single nucleotide substitution, resulting in a stop codon at amino acid 161, a single cytosine indel causing a frame shift, and a stop codon at amino acid 217, or an indel that deleted the entire STPK domain. (apsnet.org)
Risk of Alzheimer's disease1
- Our findings are particularly interesting because they show that men who are in a relatively stable relationship of five years of more who have one or two copies of allele 334 appear to be less bonded to their partners than men with other forms of this gene," says Jenae Neiderhiser, professor of psychology, Penn State. (science20.com)
- We also found that the female partners of men with one or two copies of allele 334 reported less affection, consensus and cohesion in the marriage, but interestingly, did not report lower levels of marital satisfaction than women whose male partners had no copies of allele 334. (science20.com)
- They also report that men who carried two copies of allele 334 were more than twice as likely to report serious marital or relationship problems, such as facing threat of divorce, as men who had did not carry it. (science20.com)
- Women married to men with one or two copies of allele 334 reported lower scores on measures of marital quality than women married to men not carrying this allele. (science20.com)
- So, as you know, we have some of our genes from mom and some of our genes from dad and the genes that we get are always in these two copies. (patientpower.info)
- Each autosomal gene is therefore represented by two copies, or alleles, with one copy inherited from each parent at fertilization. (wikipedia.org)
- TY - JOUR T1 - Generation of novel conditional and hypomorphic alleles of the Smad2 gene. (unboundmedicine.com)
- Second-site mutagenesis was performed on the argonaute1-33 ( ago1-33 ) hypomorphic mutant, which exhibits reduced sense transgene posttranscriptional gene silencing ( S-PTGS ). (plantphysiol.org)
- Non-homologous end-joining randomly inserts or deletes nucleotides (indels) and often causes a nonsensical frame shift, silencing the gene. (alzforum.org)
- In contrast to myotilinopathies, which may be an exception, most dominant muscular dystrophies may require specific silencing of the dominant allele. (fitness-vip.com)
- Indeed, it was previously suggested that in S. alburnoides triploids (PAA composition) silencing of one of the three alleles (mainly of the P allele) occurs. (uni-wuerzburg.de)
- and qualitative and quantitative evaluation of allelespecific gene silencing. (alliedacademies.org)