• Linkage evidence suggests that chromosome 13 (13q32-33) contains susceptibility genes for both bipolar disorder and schizophrenia. (nih.gov)
  • Recombination frequencies using previously mapped loci allowed assignment of the 5'DI gene to mouse chromosome 4 and identified its approximate chromosomal position. (jci.org)
  • The apolipoprotein E (APOE) gene is located on chromosome 19 and encodes a glycoprotein that is 299 amino acids long. (dovepress.com)
  • A single gene disorder (also called Mendelian disorder) is one that is determined by a single genetic locus and the specific allele on one or both members of a chromosome pair. (health.am)
  • Two candidate regions-one on chromosome 2 and one on chromosome 3-were identified and contained nine unique SNPs that had allele frequency changes at or greater than the 97.5 percentile for the population harboring that specific SNP. (reasons.org)
  • The candidate regions identified in chromosomes 2 and 3 correspond to regions harboring five genes (one on chromosome 2 and four on chromosome 3) associated with immune function or cancer in other mammals. (reasons.org)
  • The researchers speculate that the cereblon gene on chromosome 2 (a myeloma treatment target in humans) and two genes on chromosome 3, CD146 and THY1 (immune system regulators involved in cell-to-cell communication and cellular adhesion in humans), are likely to be of greatest interest. (reasons.org)
  • A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3. (mda.org)
  • Birt-Hogg-Dubé syndrome is caused by a mutation in the folliculin ( FLCN ) gene that has been mapped to the short arm of chromosome 17, specifically 17p11.2. (medscape.com)
  • Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)
  • Mutations in the FBN1 locus of the fibrillin gene on chromosome 15 have been linked to MFS and other distinct clinical entities with similar findings. (medscape.com)
  • most other cases are caused by mutations in the PKD2 gene on chromosome 4, which codes for polycystin 2. (msdmanuals.com)
  • They found that the log-transformed prevalence of COVID-19 and the log-transformed mortality due to COVID-19 in 33 countries (on April 1, 2020) are negatively correlated with the Del allele frequency [ 1 ]. (degruyter.com)
  • Allele Frequency: Total number of copies of the allele in the population sample (Alleles / 2n) in three decimal format. (allelefrequencies.net)
  • also called allele frequency) Proportion of genes/alleles in a population that are of a particular type. (berkeley.edu)
  • After genotyping and applying various filters, researchers focused on three focal populations, pooling samples according to date (prior to DFTD or after DFTD introduction) in an attempt to identify single nucleotide polymorphisms (SNPs) and associated genes that had extreme allele frequency changes in response to DFTD. (reasons.org)
  • Based on characteristics of DFTD, the allele frequency changes in these regions, and localized genes and the homologous gene product function in other mammals, the researchers suggest that these allele changes are indicative of an adaptive immune response to DFTD cells. (reasons.org)
  • The allele frequency was 3.5% in the normal Tunisian population. (who.int)
  • To identify mutations in parasite genes that are potentially associated with primaquine tolerance, we performed whole genome sequencing on P. vivax DNA obtained from patient samples at each relapse (EAC01-03). (cdc.gov)
  • Mutations in this gene have been associated with Johanson-Blizzard syndrome. (nih.gov)
  • Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL). (bmj.com)
  • The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)
  • CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. (mda.org)
  • Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (mda.org)
  • Point mutations have been described within c-MYC in several Burkitt's lymphomas and it has been proposed that translocation into the Ig loci might have transformed c-MYC into a substrate for the antibody hypermutation mechanism. (lu.se)
  • Several point mutations have now been identified in the fibrillin gene, most of which affect cysteine residues within the microfibril. (medscape.com)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • [ 6 ] Since the Keating group identified the genetic basis of LQTS in early 1990s, discovering the Harvey-ras-1 locus, numerous known mutations have been documented. (medscape.com)
  • Each gene pool has its own specific frequencies for alleles, genotypes and combinations of genotypes. (degruyter.com)
  • Curated mutant alleles for the specified gene, listed alphabetically. (yeastgenome.org)
  • Sometimes, genotype refers to the entire genome of an organism and sometimes it refers to the alleles carried at a particular locus . (berkeley.edu)
  • For example, a population with many different alleles at a locus may be said to have a lot of genetic variation at that locus. (berkeley.edu)
  • Genetic variation is essential for natural selection to operate since natural selection can only increase or decrease frequency of alleles already in the population. (berkeley.edu)
  • Gene conversion can be biased, tending to favor some alleles over others. (berkeley.edu)
  • These slight variations occur in less than 1% of the DNA sequence and produce different variants of a particular gene that are called alleles. (health.am)
  • Frequencies of alleles at these loci and their associations were analyzed after two, four and ten years of resowing. (unboundmedicine.com)
  • The ratio of alleles at the studied loci was changed as reproduction occurred. (unboundmedicine.com)
  • Combination of alleles at two, three, and five loci was not accidental. (unboundmedicine.com)
  • Natural selection quickly increases in frequency any alleles which confer protection against the exogenous stress. (discovermagazine.com)
  • The rates of spontaneous gene duplication and deletion are extraordinarily high and speak to the enormous potential of these structural variants for generating new adaptive variability [ 5 - 10 ]. (biomedcentral.com)
  • In this study, we seek to determine if gene copy-number changes are a common class of genetic change during adaptation and what role, if any, natural selection plays in the maintenance and frequency increase of copy-number variants (CNVs henceforth) in experimental populations. (biomedcentral.com)
  • Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. (sergas.gal)
  • Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan. (nih.gov)
  • Due to the random assignment of genes at conception, genetic variants predate disease development and are not influenced by environmental risk factors. (frontiersin.org)
  • For example, variants of the ADIPOQ gene (the rs266729 single-nucleotide polymorphism) are associated with obesity and diabetes in various Arab countries. (who.int)
  • Variants in blood pressure genes and the risk of Accardi R, Rubino R, Scalise M et col . (2011). (who.int)
  • First, the results demonstrate that adaptation based on multiple genes-such as selection acting on the standing genetic variation-does not entail a huge reproductive cost as suggested by Haldane, provided of course that the population is reproducing sexually. (mcmaster.ca)
  • If the risk of COVID-19 infection is to be associated with some polymorphic loci, then it is expected that populations will show different patterns for epidemiological parameters. (degruyter.com)
  • It should be noted that based on previous studies the Del allelic frequencies in eastern Asian populations, such as in Chinese, Korean, Taiwanese and Japanese, are lower than in European populations [ 6 ]. (degruyter.com)
  • If there is an inverse relationship between the allelic frequency of Del and the prevalence of COVID-19, the prevalence and mortality of the disease in Eastern Asians are expected to be higher than in European populations. (degruyter.com)
  • ALFRED is a resource of gene frequency data on human populations supported by the Yale Center for Medical Informatics. (yale.edu)
  • Gene copy-number variation (CNVs), which provides the raw material for the evolution of novel genes, is widespread in natural populations. (biomedcentral.com)
  • The frequencies of CNVs in these populations were analyzed by oligonucleotide array comparative genome hybridization, quantitative PCR, PCR, DNA sequencing across breakpoints, and single-worm PCR. (biomedcentral.com)
  • Multiple duplications and deletions rose to intermediate or high frequencies in independent populations. (biomedcentral.com)
  • Several lines of evidence suggest that these changes were adaptive: (i) copy-number changes reached high frequency or were fixed in a short time, (ii) many independent populations harbored CNVs spanning the same genes, and (iii) larger average size of CNVs in adapting populations relative to spontaneous CNVs. (biomedcentral.com)
  • Due to the high rates of origin of spontaneous duplications and deletions, copy-number changes containing the same genes arose readily in independent populations. (biomedcentral.com)
  • Duplications that reached high frequencies in these adapting populations were significantly larger in span. (biomedcentral.com)
  • In contrast, natural selection for increased gene expression may represent an important mechanism by which duplicate gene copies are maintained in populations [ 14 ]. (biomedcentral.com)
  • The movement of genes between populations. (berkeley.edu)
  • Candidate genomic loci were restricted to those indicated in all three populations. (reasons.org)
  • We found that the distributions and frequencies of types of OspC genes differed between populations of B. burgdorferi in the Northeast, the Midwest, and California. (cdc.gov)
  • Today, understanding the true risk of adverse events in long-QT syndrome (LQTS) populations may be extremely complex and potentially dependent on many factors such as the affected gene, mutation location, degree of QTc prolongation, age, sex, and other yet unknown factors. (medscape.com)
  • Gene and genome duplications are the primary source of new genes and have played a pivotal role in the evolution of genomic and organismal complexity [ 1 - 4 ]. (biomedcentral.com)
  • Additionally, a subset of 2428 subjects was genotyped and information on three genomic loci was used in this study. (rrh.org.au)
  • 3 , 4 The ATM gene is located at 11q22-23, spans 184 kb of genomic DNA, and has 66 exons. (bmj.com)
  • This strain contained a mutation in the locus band (bd), later shown to encode a mildly hyperactive allele of ras-1 so strains are now known as ras-1[bd]. (wikipedia.org)
  • furthermore, when strains of Neurospora were engineered in which frq expression could be driven from a region distinct from the resident wild type gene, it was found that FRQ repressed its own expression and that no level of constant expression could support a circadian clock. (wikipedia.org)
  • In addition, the 3 strains contained SNVs in genes homologous to known P. falciparum drug-resistance genes, including pvdhps , pvmdr , and pvmrp ( 6 - 8 ). (cdc.gov)
  • Click "Sequence Details" to view all sequence information for this locus, including that for other strains. (yeastgenome.org)
  • Using whole-genome quantitative gene expression as a model, here we study how the genetic architecture of regulatory variation in gene expression changed in a population of fully sequenced inbred Drosophila melanogaster strains when flies developed in different environments (25 °C and 18 °C). We find a substantial fraction of the transcriptome exhibited genotype by environment interaction, implicating environmentally plastic genetic architecture of gene expression. (nature.com)
  • Several functional studies have reported that the Ahl gene renders mice more susceptible to noise -induced hearing loss (NIHL) than strains which do not carry this gene [e.g. (cdc.gov)
  • In addition, we sequenced 99 ospC flanking sequences from different lineages and compared the complete cp26 sequences of 11 strains as well as the cp26 bbb02 loci of 56 samples. (cdc.gov)
  • Over time, OspC genes were transferred between strains through recombinations involving the whole or parts of the gene and one or both flanks. (cdc.gov)
  • Recently, genes called "G72" and "G30" were identified, and polymorphisms of these overlapping genes were reported to be associated with schizophrenia. (nih.gov)
  • Sixteen single-nucleotide polymorphisms (SNPs) were genotyped at and around the G72/G30 locus, which covered a 157-kb region encompassing the entire complementary DNA sequences of G72 and G30. (nih.gov)
  • Since NAION may occur when compromised watershed microcirculation is combined with insufficient autoregulation of systematic circulation, polymorphisms of genes involved in systematic circulation, such as the RAAS genes, may be associated with NAION occurrence. (molvis.org)
  • The renin-angiotensin system genes exhibit three common polymorphisms: the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme ( ACE ) gene, the M235T polymorphism of the angiotensinogen gene ( AGT ), and the A1166C polymorphism of the angiotensin II type 1 receptor gene ( AT1-receptor ). (molvis.org)
  • Different genotypes of several genetic polymorphisms of certain genes, at least in part, might be accounted for susceptibility to COVID-19 infection. (degruyter.com)
  • All of the genotypes analyzed were in Hardy-Weinberg equilibrium, but different degrees of linkage were observed for polymorphisms in the CYP1A1 and EPHX1 genes. (scielo.br)
  • However, the relationship between polymorphisms in the WDR4 gene and susceptibility to Wilms tumor remains to be fully investigated. (jcancer.org)
  • We performed a large case-control study involving 414 patients and 1199 cancer-free controls to investigate whether single nucleotide polymorphisms (SNPs) in the WDR4 gene are associated with Wilms tumor susceptibility. (jcancer.org)
  • It has been hypothesized that single nucleotide polymorphisms in CYP19A1 gene may alter aromatase activity and circulating steroid hormone levels in females. (spandidos-publications.com)
  • In the case of polymorphic linked loci, gene pools reveal much more differences with each other. (degruyter.com)
  • Hemmings, G P. / A study of linkage disequilibrium between polymorphic loci for monamine oxidases A and B in schizophrenia . (uhi.ac.uk)
  • Wei, J & Hemmings, GP 1999, ' A study of linkage disequilibrium between polymorphic loci for monamine oxidases A and B in schizophrenia ', Psychiatric Genetics , vol. 9, no. 4, pp. 177-81. (uhi.ac.uk)
  • One of the few antigens against which mammals develop protective immunity is the highly polymorphic OspC protein, encoded by the ospC gene on the cp26 plasmid. (cdc.gov)
  • Since the autosomal chromosomes are paired, there are 2 copies of each gene. (health.am)
  • 1 The research is relatively vague in regard to what may actually be providing some Tasmanian devils with resistance to a transmissible form of cancer known as DFTD (devil facial tumor disease), but data points to changes in allele frequencies in two regions of chromosomes 2 and 3. (reasons.org)
  • The cumulative reproductive cost of multi-locus selection has been considered to be a potentially limiting factor on the rate of adaptive evolution. (mcmaster.ca)
  • Disorders where genetics play an important role, so-called genetic diseases, can be classified as single gene defects, chromosomal disorders, or multifactorial. (health.am)
  • The AT locus was mapped to the chromosomal region 11q22-23 using genetic linkage analysis in the late 1980s and the causative gene was identified by positional cloning several years later. (bmj.com)
  • Burkitt's lymphomas harbour chromosomal translocations bringing c-MYC into the vicinity of one of the immunoglobulin gene loci. (lu.se)
  • Thus chromosomal translocations invoicing the Ig loci may not only contribute to transformation by deregulating oncogene expression but could also act by potentiating subsequent oncogene hypermutation. (lu.se)
  • The frequency (frq) gene encodes the protein frequency (FRQ) that functions in the Neurospora crassa circadian clock. (wikipedia.org)
  • The ATM gene encodes a large protein that belongs to a family of kinases possessing a highly conserved C-terminal kinase domain related to the phosphatidylinositol 3-kinase domain. (bmj.com)
  • 4 - 7 The ATM gene encodes a nuclear phosphoprotein of approximately 350 kDa (3056 amino acids) and is ubiquitously expressed. (bmj.com)
  • Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. (yeastgenome.org)
  • In addition to environmental factors, phenotypes can also respond to genetic perturbations in a plastic or homeostatic manner, which characterizes the potential of an organism to express phenotypes when genes mutate. (nature.com)
  • The researchers admit that further investigation is absolutely necessary to identify which genetic changes and which genes may play a functional role in resistance to DFTD, as their findings point merely to disease-responsive SNPs. (reasons.org)
  • In addition, unconditioned logistic regression analysis was performed, odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association between WDR4 gene SNPs and Wilms tumor susceptibility as well as the strength of the associations. (jcancer.org)
  • We examined the association of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme gene, of the M235T polymorphism of the angiotensinogen gene, and of the A1166C polymorphism of the angiotensin II type 1 receptor gene with NAION. (molvis.org)
  • NAION occurrence was not associated with the M235T polymorphism of the angiotensinogen gene and the A1166C polymorphism of the angiotensin II, type 1 receptor gene. (molvis.org)
  • The authors reported correlation between the frequency of the Del allele of the ACE Ins/Del polymorphism and prevalence and mortality rates of COVID-19 in 33 countries (25 European, three north-African and five Middle East countries). (degruyter.com)
  • T polymorphism of the WDR4 gene was significantly associated with Wilms tumor. (jcancer.org)
  • Intragenic recombination among ospC genes is known, but the extent to which recombination extended beyond the ospC locus itself is undefined. (cdc.gov)
  • We performed transmission/disequilibrium testing (TDT) and haplotype analysis, since a linkage-disequilibrium block was present at this gene locus. (nih.gov)
  • We report a significant linkage and linkage disequilibrium between beta frequency and a set of GABA A receptor genes. (wustl.edu)
  • 3 Interestingly, two BRCA1 haplotypes account for the bulk of the genotypes, the consensus at 59% frequency, and the most common non-consensus haplotype at 21% (fig 1). (bmj.com)
  • Analysis of the allele frequencies for the three loci of SLC2A9 suggested that in all three instances the prevalence of deleterious genotypes was highest in Vis, followed by Korcula, which had higher or comparable prevalence to the city of Split. (rrh.org.au)
  • In this paper, we show that Haldane's arguments for the accumulation of reproductive costs over multiple loci are valid only for a clonally reproducing population of asexual genotypes. (mcmaster.ca)
  • Advances in molecular and statistical genetics permit examination of quantitative traits such as the beta frequency of the human electroencephalogram in conjunction with DNA markers. (wustl.edu)
  • Most of the human SNP diversity at a given locus may be described as a set of "canonical" haplotypes, representing common haplotypes in a population. (bmj.com)
  • These unusual haplotypes could represent hemizygous loci resulting from intragenic deletions. (bmj.com)
  • Within the remaining samples, 42 contained rare haplotypes that appeared to arise from changes in one out of five SNP loci in exon 11, potentially indicative of a partial deletion of the exon. (bmj.com)
  • The most common regularity was predominance of the frequency of allelic associations characteristic of the parents (except for Ilyichevka) over new combinations. (unboundmedicine.com)
  • Allelic frequencies of either (AC) n repeats or (TG) n repeats were not found to be significantly different between patients and controls. (uhi.ac.uk)
  • Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis. (nih.gov)
  • Frequency of the most abundant sequences in each of the libraries was compared across all libraries to identify genes that are potentially differentially expressed during cold acclimation and fruit development. (usda.gov)
  • These results indicate that this large collection of 454 ESTs will be a valuable resource for identifying genes that are potentially differentially expressed and play important roles in flower bud development, cold acclimation, chilling unit accumulation, and fruit development in blueberry and related species. (usda.gov)
  • Finally, although genotype by environment interaction in gene expression could potentially disrupt genetic networks, the co-expression networks are highly conserved across environments. (nature.com)
  • The frq gene can be activated from two distinct cis-acting sequences in its promoter, a distal site, the clock-box, used in the context of circadian regulation, and a site close to the principal transcription start site that is used for light-induced expression (the proximal light-regulatory element or PLRE). (wikipedia.org)
  • Here we show that the maize dominant Barren inflorescence3 ( Bif3 ) mutant harbors a tandem duplicated copy of the ZmWUS1 gene, ZmWUS1-B , whose novel promoter enhances transcription in a ring-like pattern. (nature.com)
  • Although the majority of expression quantitative trait loci (eQTLs) for the gene expression traits in the two environments are shared and have similar effects, analysis of the environment-specific eQTLs reveals enrichment of binding sites for two transcription factors. (nature.com)
  • DDX5 is required for cell proliferation by controlling the transcription of genes expressing DNA replication proteins in cancer cells in which the DDX5 locus is amplified, and this has uncovered a dependence on DDX5 for cell proliferation. (aacrjournals.org)
  • The proteins produced from HLA genes help the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). (medlineplus.gov)
  • Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation. (nih.gov)
  • All three loci belong to SLC2A9 gene, considered to have a major role in the regulation of serum uric acid concentration (rs6449213, rs1014290 and rs737267). (rrh.org.au)
  • These experiments were the first to manipulate the expression of a clock gene through means that did not themselves affect the clock and established that autoregulatory negative feedback giving rise to cyclical clock gene expression lay at the core of the circadian oscillator. (wikipedia.org)
  • A distinct ZmFCP1-FEA3 ligand-receptor combination, originally identified in maize, prevents WUS gene expression in the region below the OC (also called rib zone, RZ), thus confining WUS expression within the OC of meristems 6 . (nature.com)
  • Overall, 14 out of 17 of the genes examined had differential expression patterns similar to what was predicted from their reads alone. (usda.gov)
  • Genetic variance in expression increases at 18 °C relative to 25 °C for most genes that have a change in genetic variance. (nature.com)
  • Genes with higher network connectivity are under stronger stabilizing selection, suggesting that stabilizing selection on expression plays an important role in promoting network robustness. (nature.com)
  • We identify an important role for DDX5 in G 1 -S-phase progression where it directly regulates DNA replication factor expression by promoting the recruitment of RNA polymerase II to E2F-regulated gene promoters. (aacrjournals.org)
  • How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
  • Here, using newer, more affordable DNA sequencing technology, we report approximately 139,000 new DNA sequences from genes that function in blueberry fruit at different stages of ripening, flower buds at different stages of development, and leaves. (usda.gov)
  • The gene sequences have been deposited in the public database known as GenBank and are accessible through the internet. (usda.gov)
  • The gene sequences have been used to develop molecular markers that will be useful for scientists in developing genetic maps of blueberry and for use by breeders in developing new varieties. (usda.gov)
  • This large collection of new sequences will also be a valuable resource for scientists attempting to identify genes that play important roles in flower bud development, winter hardiness, fruit ripening, and fruit quality in blueberry and related species. (usda.gov)
  • Efforts to sequence the transcriptome of the commercial highbush blueberry (Vaccinium corymbosum L.) and use the sequences to identify genes associated with cold acclimation and fruit development and develop SSR markers for mapping studies are presented here. (usda.gov)
  • The assembled sequences were annotated and functionally mapped to Gene Ontology (GO) terms. (usda.gov)
  • From these sequences, 15,886 blueberry EST-SSR loci were identified. (usda.gov)
  • Two X-linked microsatellites, (AC) n repeats at the monoamine oxidase (MAO)-A locus and (TG)n repeats at the MAO-B locus, were studied in 140 unrelated Caucasian male patients with schizophrenia and 91 unrelated Caucasian male controls. (uhi.ac.uk)
  • We have previously established that the spontaneous, genome-wide rate of gene duplication in C. elegans is two orders of magnitude higher than the point mutation rate [ 8 ]. (biomedcentral.com)
  • After expanding the control sample to include additional unmatched non-cases, rs2237352 and another SNP in the CREB5 gene, rs12700903, were genome-wide significant. (cdc.gov)
  • We did not detect genome-wide significant signals at loci associated with RCD in previous studies. (cdc.gov)
  • The Ahl gene appears to play a role in susceptibility to NIHL but, other genes as well as systemic and local factors must also be involved. (cdc.gov)
  • Random changes in the gene frequencies of a population from generation to generation. (berkeley.edu)
  • This process causes gene frequencies in a population to drift around over time. (berkeley.edu)
  • Some genes may even "drift out" of a population (i.e., just by chance, some gene may reach a frequency of zero). (berkeley.edu)
  • All of the genes in a population. (berkeley.edu)
  • The researchers speculate that genes in these regions may end up being key in providing Tasmanian devils with resistance to the aggressive and easily transmitted form of cancer that has wiped out 80 percent of the population in just two decades. (reasons.org)
  • Hybrid population with heterogeneity for five gliadin-coding loci was created by crossing of five winter common wheat cultivars (Belozerskaya 47, Ilyichevka, Kyyanka, Mironovskaya 808, Polesskaya 70) by the complete scheme. (unboundmedicine.com)
  • AU - Koliuchiĭ,V T, AU - Sozinov,A A, PY - 2000/6/17/pubmed PY - 2000/8/19/medline PY - 2000/6/17/entrez SP - 32 EP - 8 JF - TSitologiia i genetika JO - Tsitol Genet VL - 34 IS - 2 N2 - Hybrid population with heterogeneity for five gliadin-coding loci was created by crossing of five winter common wheat cultivars (Belozerskaya 47, Ilyichevka, Kyyanka, Mironovskaya 808, Polesskaya 70) by the complete scheme. (unboundmedicine.com)
  • Reflecting its role as a core clock protein, deletion of the frq gene results in arrhythmicity, and in Neurospora, the only function of FRQ is in the circadian clock. (wikipedia.org)
  • Most genes carry information which is necessary to synthesize a protein. (health.am)
  • The information contained in the nucleotide sequence of a gene is transcribed to mRNA (messenger RNA) by enzymes in the cell's nucleus and then translated to a protein in the cytoplasm. (health.am)
  • If a gene is abnormal, it may code for an abnormal protein or for an abnormal amount of a normal protein. (health.am)
  • If one of these genes is defective, the other may code for sufficient protein, so that no disease is clinically apparent. (health.am)
  • The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. (nih.gov)
  • By means of DNA sequencing of a large sample collection of the pathogen from across the United States, we studied the gene for the bacterium's highly diverse OspC protein, protective immunity against which develops in animals. (cdc.gov)
  • Given the high frequency of DDX5 amplification in breast cancer, our results highlight DDX5 as a promising candidate for targeted therapy of breast tumors with DDX5 amplification, and indeed we show that DDX5 inhibition sensitizes a subset of breast cancer cells to trastuzumab. (aacrjournals.org)
  • Atm deficient mice exhibit many of the symptoms found in patients with AT and have a high frequency of thymic lymphoma. (bmj.com)
  • It has been shown that these mice begin losing high-frequency hearing at two months. (cdc.gov)
  • With the institution of antenatal Rhesus (Rh) D immunoglobulin prophylaxis, the frequency of maternal alloimmunization in Rh D-negative women has decreased significantly. (medscape.com)
  • Here we test this hypothesis by exploiting a Burkitt's lymphoma line (Ramos) that we have previously shown to hypermutate its immunoglobulin genes constitutively. (lu.se)
  • In the CZ, WUS activates the CLV3 gene, encoding a short signaling peptide perceived by a series of leucine-rich repeat (LRR)-receptor-like complexes, among which are complexes containing CLV1 and CLV2. (nature.com)
  • GO Annotations consist of four mandatory components: a gene product, a term from one of the three Gene Ontology (GO) controlled vocabularies ( Molecular Function , Biological Process , and Cellular Component ), a reference, and an evidence code. (yeastgenome.org)
  • Click "Gene Ontology Details" to view all GO information and evidence for this locus as well as biological processes it shares with other genes. (yeastgenome.org)
  • Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci. (sergas.gal)
  • We find that the DDX5 locus is frequently amplified in breast cancer and that breast cancer-derived cells with amplification of DDX5 are much more sensitive to its depletion than breast cancer cells and a breast epithelial cell line that lacks DDX5 amplification. (aacrjournals.org)
  • That is, each has the same genes, but there are slight variations in the DNA sequence of nucleotide bases in each gene. (health.am)
  • There is ample evidence for the preservation of multiple gene copies due to selection for increased gene dosage in diverse organisms [ 20 ]. (biomedcentral.com)
  • Sickle-cell disease one of the classical illustrations of heterozygote advantage, whereby those who carry one copy of the mutation on the gene have increased fitness vis-a-vis those who carry two normal copies of the gene. (discovermagazine.com)
  • Inbred C57BL/6J mice carry two copies of an age-related hearing loss gene (Ahl). (cdc.gov)
  • The increase in frequency of the mutant gene though is balanced by the fact that mutant homozygotes have decreased fitness. (discovermagazine.com)
  • Over the long term one assumes that 'better solutions' will emerge which do not have so high a fitness drag, perhaps through the evolution of modifier genes which mask the deleterious outcomes of the initial mutant. (discovermagazine.com)
  • This is called a recessive disease, and the gene is said to be inherited in a recessive pattern. (health.am)
  • In the case of a recessive disease, if one abnormal gene is inherited, the child will not show clinical disease, but they will pass the abnormal gene to 50% (on average) of their offspring. (health.am)
  • If one abnormal gene produces disease, this is called a dominant hereditary disorder. (health.am)
  • In the case of a dominant disorder, if one abnormal gene is inherited from mom or dad, the child will likely show the disease. (health.am)
  • If a child receives an abnormal recessive disease gene from both parents, the child will show the disease and will be HOMOZYGOUS for that gene. (health.am)
  • If two parents are each heterozygous for a particular recessive disease gene, then each child has a 25% chance of being homozygous for that gene and therefore, of showing the disease. (health.am)
  • A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (mda.org)
  • Most of these genes are known or suspected to be involved in immune system function. (medlineplus.gov)
  • the mutation frequency is 2-3-fold lower than for the endogenous functional IgH allele. (lu.se)
  • Functional data from each mouse were aligned with the cytocochleogram using the frequency-place map of Ou et al. (cdc.gov)
  • The incidence of serious single gene disorders is estimated to be about 1 in 200 births. (health.am)
  • The association between mutation of the ATM gene and a high incidence of lymphoid malignancy in patients with AT, together with the development of lymphoma in Atm deficient mice, supports the proposal that inactivation of the ATM gene may be of importance in the pathogenesis of sporadic lymphoid malignancy. (bmj.com)
  • Gene-environment interactions are an example of phenotypic plasticity . (berkeley.edu)
  • thus, a wide range of phenotypic features is derived from a single gene mutation. (medscape.com)
  • These data suggest that a susceptibility variant for bipolar illness exists in the vicinity of the G72/G30 genes. (nih.gov)
  • We find that, during in vitro culture, Ramos mutates the c-MYC allele that is translocated into the IgH locus whilst leaving the untranslocated c-MYC and other control genes essentially unaffected. (lu.se)
  • We show that gene copy-number changes are a common class of adaptive genetic change. (biomedcentral.com)
  • It is common knowledge that a person's appearance - height, hair color, skin color, and eye color - are determined by genes. (health.am)
  • Loss of heterozygosity at 11q22-23 (the location of the ATM gene) is a common event in lymphoid malignancy. (bmj.com)