• Using the inbred mouse as a model organism, QTL mapping has become a very important tool for finding the genes that regulate complex human diseases, including atherosclerosis, diabetes, obesity, asthma and hypertension. (jax.org)
  • Because of cross-species concordance, QTL and their underlying candidate genes can first be identified, cost-effectively, in mice and then the genes can be tested relatively easily in humans and verified in mice. (jax.org)
  • We mapped all estrogen receptor and RNA polymerase II binding sites on a genome-wide scale, identifying the authentic cis binding sites and target genes, in breast cancer cells. (nature.com)
  • Linkage analyses of markers close to the loci of the candidate genes are performed first, and any families where a gene locus clearly does not segregate with disease are ruled out from further study of that gene. (molvis.org)
  • In humans, the wide variety of carcinogens and varying degrees of exposure make identifying the predisposing genes difficult, but in a mouse model, such confounding variables can be controlled. (bmj.com)
  • Identification of the genes predisposing to mouse lung cancer could have considerable implications for diagnosis, treatment, or chemoprevention of lung cancer in humans. (bmj.com)
  • In the four disease loci found, three genes have been identified which code for beta-myosin heavy chain, cardiac troponin T and alpha-tropomyosin. (nih.gov)
  • Mutations in the cardiac MyBP-C gene likely cause chromosome 11-linked hypertrophic cardiomyopathy, further supporting the hypothesis that hypertrophic cardiomyopathy results from mutations in genes encoding contractile proteins. (nih.gov)
  • Quantitative Trait Loci and Candidate Genes for Neutrophil Recruitment in Sterile Inflammation Mapped in AXB-BXA Recombinant Inbred Mice. (genenetwork.org)
  • however, only two disease-causing genes, SOS1 and REST , inducing HGF have been identified at two loci, GINGF1 and GINGF5, respectively. (nature.com)
  • Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. (nature.com)
  • 16 Among these loci, "son of sevenless homologue 1" ( SOS1 , OMIM 182530) and "RE1 silencing transcription factor" ( REST , OMIM 600571), which are HGF-related pathogenic genes, have been identified as associated with GINGF1 and GINGF5, respectively. (nature.com)
  • Genetic studies have repeatedly implicated the DYX2 locus, specifically the genes DCDC2 and KIAA0319 , in RD, with recent studies suggesting they also influence LI, verbal language, and cognition. (springer.com)
  • We identified six regions on chromosomes 2, 3, 4, 7, 11 and 14 as candidates to contain genes involved in breast cancer susceptibility, and additional fine mapping genotyping using microsatellite markers around linkage peaks confirmed five of them, excluding the region on chromosome 3. (biomedcentral.com)
  • In contrast, interactions between genes and the environment cannot usually be studied using conventional mapping populations in which each animal is unique. (nervenet.org)
  • Expression analysis of several Hox genes in human embryos. (cnr.it)
  • Nat Genet 2009;41:986-90. (who.int)
  • A single locus associated with HPT-JT (HRPT2) was previously mapped to chromosomal region 1q25-q32. (nih.gov)
  • This review emphasizes the potential of analysing chromosomal rearrangements as a means to rapidly define candidate disease loci for further investigation. (neurotransmitter.net)
  • Consensus BXN chromosomal maps are close to the length predicted by the Haldane-Waddington equation and are typically 3.6 times longer than single generation meiotic maps. (nervenet.org)
  • Dupuy, B. M., M. Stenersen, T. Egeland, and B. Olaisen, 2004 Y-chromosomal microsatellite mutation prices: differences in mutation rate in between and within loci. (caspase1inhibitor.com)
  • Fungtammasan, A., E. Walsh, F. Chiaromonte, K. A. Eckert, and K. D. Makova, 2012 A genome-wide analysis of widespread fragile sites: What attributes establish chromosomal instability inside the human genome? (caspase1inhibitor.com)
  • Linkage analysis or QTL interval mapping in an experimental design is a classic method in quantitative genetics to detect QTL, which allows inferring QTL effects in an un-typed chromosomal interval harbored by flanking genetic markers ( Lynch and Walsh, 1998 ). (frontiersin.org)
  • The DNAs were analyzed for the alleles of a dinucleotide repeat marker ("PDEB") adjacent to the PDE6B gene at chromosome 4p16.3 (15,16). (molvis.org)
  • Past studies have mapped four susceptibility loci (Pas1-4) for pulmonary adenoma in which A/J and C57BL/6J (B6) mice have different alleles that affect incidence and multiplicity of tumours. (bmj.com)
  • In the process called quantitative trait loci (QTL) mapping, attempts are made to find significant correlations between marker alleles and the phenotypic variation, or disease state. (bmj.com)
  • Dr. Scheet's lab has helped pioneer methods to more accurately distinguish these alterations using information on the order of inherited alleles on a chromosome, i.e. the haplotypes. (mdanderson.org)
  • The N2 rats that are determined by genotyping to be heterozygous along the target chromosome are then backcrossed for ∼4 to 8 generations [e.g., marker assister selection for rats with most SS (blue) alleles]. (comprehensivephysiology.com)
  • Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes. (broadinstitute.org)
  • We defined credible sets of ≤5 causal variants at 5 rheumatoid arthritis and 10 type 1 diabetes loci. (ox.ac.uk)
  • Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. (ox.ac.uk)
  • The IDDM2 locus encoding susceptibility to type 1 diabetes was mapped previously to a 4.1-kb region spanning the insulin gene and a minisatellite or variable number of tandem repeats (VNTR) locus on human chromosome 11p15.5. (ox.ac.uk)
  • Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. (ox.ac.uk)
  • Studies using a derivative of chromosome conformation capture (3C) known as 'Hi-C' have revealed that long-range genomic contacts segregate TADs into an active (A) and inactive (B) compartment [ 37 ]. (biomedcentral.com)
  • We used circular chromosome conformation capture (4C) coupled with next-generation sequencing to explore the genome regions that interact with TUG1 and the TUG1 -mediated regulation. (biomedcentral.com)
  • The rat Downunder (Du) coat color mutation is associated with eye anomalies and embryonic lethality and maps to a 3.9-Mb region on chromosome 3. (kyoto-u.ac.jp)
  • The increased role of QTL mapping and favored status of the inbred mouse in that role, are due to the improvement and development of genetic research tools (many of them pioneered by The Jackson Laboratory) to manipulate the mouse genome. (jax.org)
  • In addition, powerful databases like the Mouse Genome Informatics (MGI) database, the JAX® Mice database and the Mouse Phenome Database - all maintained at The Jackson Laboratory - are constantly improving to facilitate QTL mapping in the mouse. (jax.org)
  • After completing a B.A. in Biology, Dr. Scheet worked on the Human Genome Project at the Genome Center at Washington University in St. Louis, performing Sanger sequencing and informatics. (mdanderson.org)
  • The software for this model, fastPHASE, helped usher in a host of "imputation mapping" methods that have become part of standard practice in analyses genome-wide association studies (GWAS). (mdanderson.org)
  • In its untangled, unfolded and completely linearized state, the human genome has a length of ~2 m. (biomedcentral.com)
  • A chromosome-based draft sequence of the hexaploid bread wheat ( Triticum aestivum ) genome. (genomeweb.com)
  • Jill A. Rosenfeld Mokry is a certified genetic counselor with extensive experience researching what genome-wide testing can teach us about human disease. (bcm.edu)
  • Genome-scale activation screen identifies a lncRNA locus regulating a gene neighbourhood. (broadinstitute.org)
  • Broad Genomics Platform sequences a whole human genome every four minutes. (broadinstitute.org)
  • In November 2022, Broad's Genomics Platform sequenced its 500,000th whole human genome, a mere four years after sequencing its 100,000th. (broadinstitute.org)
  • Genomewide linkage scans have traditionally been performed using low-density maps of microsatellite markers with a spacing of about 10 cM across the genome [ 1 ]. (biomedcentral.com)
  • Two-dimensional genome-scan identifies novel epistatic loci for essential hypertension. (brightstudy.ac.uk)
  • Genome-wide mapping of human loci for essential hypertension. (brightstudy.ac.uk)
  • Eckert, K. A., and S. E. Hile, 2009 Every single microsatellite is distinctive: intrinsic DNA capabilities dictate mutagenesis of widespread microsatellites present in the human genome. (caspase1inhibitor.com)
  • Several nuclear genome assemblies of C. auris have been published representing different clades and continents, yet until recently, the mitochondrial genomes (mtDNA chromosomes) of this species and the closely related species of C. haemulonii, C. duobushaemulonii, and C. pseudohaemulonii had not been analyzed in depth. (cdc.gov)
  • STEC O55:H7 122262 chromosome is set as the reference genome, and the 122262 prophages (P1-P15) comprise the first ring. (cdc.gov)
  • A mutation in the Ter gene causing increased susceptibility to testicular teratomas maps to mouse chromosome 18. (jax.org)
  • By 'cross-match' haplotype analysis and linkage disequilibrium mapping, we have mapped the mutation IDDM2 to within the VNTR itself. (ox.ac.uk)
  • Genotype relative risk could be estimated to be between 2.4 and 4.8 for persons homozygous at these loci. (neurotransmitter.net)
  • This yields offspring with an isogenic SS background for all but the target chromosome as shown in (B). Selected male and female rats are then mated resulting in approximately 25% of the offspring being homozygous for the chromosome of interest. (comprehensivephysiology.com)
  • These take into consideration additional information before determining whether a given locus is heterozygous or homozygous. (bitesizebio.com)
  • DNAs of the probands from the remaining families (where the gene locus cannot be ruled out from segregating with disease) are then screened for mutations in the exons of the candidate gene by SSCPE (single strand conformation polymorphism electrophoresis) and DGGE (denaturing gradient gel electrophoresis). (molvis.org)
  • The Mouse Phenome Database (MPD) is particularly useful for helping investigators select the most appropriate strains to cross in a QTL mapping project. (jax.org)
  • Mouse pulmoary adenoma susceptibility loci (Pas) as mapped in crosses of strains A/J and C57BL/6. (bmj.com)
  • Recombinant inbred (RI) strains of mice are an important resource used to map and analyze complex traits. (nervenet.org)
  • The final consensus maps are based on 1578 microsatellite loci and these maps have a cumulative length of approximately 1400 cM after adjustment for recombination frequencies of RI strains. (nervenet.org)
  • Genomes of individuals strains typically incorporate 45-55 recombinations between parental chromosomes. (nervenet.org)
  • We provide two-locus correlograms that can be used to detect and correct for non-syntenic association and to reduce error rates in QTL mapping studies that exploit RI strains. (nervenet.org)
  • Recombinant inbred (RI) strains have been used to map a wide range of Mendelian loci and quantitative traits (Taylor, 1989). (nervenet.org)
  • Recently, RI strains have also been used to map QTLs that that are responsible for biometric variation in the architecture of the mouse CNS (Belknap et al. (nervenet.org)
  • A third advantage of RI strains is that genotypes generated by different groups using a variety of methods can be pooled to generate high-density linkage maps. (nervenet.org)
  • One reason is that a single-locus test for QTL within a large LD block is very likely boosted by multiple QTL within the LD block whose effects are much smaller. (frontiersin.org)
  • She and co-researchers found significant concordance among mouse, human and rat hypertension QTL, 4 between mouse and human HDL cholesterol QTL, 6 between rat and human kidney disease QTL, 7 between mouse and human atherosclerosis QTL, 8 and among various species for osteoporosis, inflammatory bowel disease, type II diabetes and asthma QTL. (jax.org)
  • Joint mouse-human phenome-wide association to test gene function and disease risk. (genenetwork.org)
  • Several lncRNAs are involved in the carcinogenesis, disease progression, or metastasis of human cancers (e.g. (biomedcentral.com)
  • Allelic variation at VNTRs may play an important general role in human disease. (ox.ac.uk)
  • Here we show that three of these SNPs, mapping to chromosome 10p15 (rs4750316), 12q13 (rs1678542) and 22q13 (rs3218253), are also associated (trend P = 4 x 10(-5), P = 4 x 10(-4) and P = 4 x 10(-4), respectively) in a validation study of 4,106 individuals with rheumatoid arthritis and an expanded reference group of 11,238 subjects, confirming them as true susceptibility loci in individuals of European ancestry. (ox.ac.uk)
  • Additionally, SNP assays are more amenable to multiplexing and are easier to automate, and over 6 million validated human SNPs have been stored in public databases to date. (biomedcentral.com)
  • Structural and functional partitioning of bread wheat chromosome 3B. (genomeweb.com)
  • 2007 Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. (caspase1inhibitor.com)
  • conducted a linkage analysis in a large yeast Saccharomyces cerevisiae cross with high statistical power to map functional quantitative trait loci (QTL) and found that nearly all the additive genetic contribution can be explained by the detected QTL. (frontiersin.org)
  • This commentary is raised to emphasize the trade-off between resolution and statistical power in mapping functional loci. (frontiersin.org)
  • LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification. (lu.se)
  • Quantitative trait locus (QTL) mapping locates and estimates the effect of genetic loci that regulate quantitative traits. (jax.org)
  • We have adopted a PCR-based, DNA pooling method for mice with 'extreme' phenotypes (small testes versus normal-sized testes) to identify a candidate linkage to the Ter locus. (jax.org)
  • Linkage Analysis Using Co-Phenotypes in the BRIGHT Study Reveals Novel Potential Susceptibility Loci for Hypertension. (brightstudy.ac.uk)
  • Using either a single affected subject per family or all affected subjects, evidence for excess transmission was found by the Transmission Disequilibrium Test for rs2056202, rs2292813, and a two-locus G*G haplotype. (neurotransmitter.net)
  • Expression complexity of the Otx2 locus: transcriptional, post-transcriptional and translational regulation of Otx2 mRNA isoforms control specification and maintenance of forebrain and midbrain regional identities. (cnr.it)
  • 4, 5 Four QTLs identified as pulmonary adenoma susceptibility (Pas) loci 1-4 have been mapped, respectively, to mouse chromosomes 6, 17, 19, and 9. (bmj.com)
  • Structural characterization of amyloid fibrils from the human parathyroid hormone. (univ-paris5.fr)
  • As a result, loci that segregate in RI sets can often be mapped with impressive precisions without genotyping. (nervenet.org)
  • Note to the Reader Please cite this work as: Williams RW, Gu J, Qi S, Lu L (2001) The genetic structure of recombinant inbred mice: High-resolution consensus maps for complex trait analysis. (nervenet.org)
  • That similarity has become all the more evident in the past 15 years as comparative genomics has demonstrated that the location of mouse and other model animal QTL can predict the location of homologous QTL in humans. (jax.org)
  • Two independent mapping approaches confirmed this evidence for Ter linkage near D18Mit62 on mouse chromosome 18, and suggest a possible human homologue on chromosome 5q. (jax.org)
  • AAV type 2 wild-type and vector-mediated genomic integration profiles in human diploid fibroblasts analyzed by 3rd generation PacBio DNA sequencing. (genomeweb.com)
  • Example of impact of genomic background on mean arterial pressure (MAP) responses to a high‐salt diet. (comprehensivephysiology.com)
  • Interchromosomal interactions: A genomic love story of kissing chromosomes. (broadinstitute.org)
  • This phenomenon was first revealed between laboratory rat and human hypertension QTL. (jax.org)
  • Chromosome 2p shows significant linkage to anti-hypertensive response in the British Genetics of Hypertension (BRIGHT) study. (brightstudy.ac.uk)
  • MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing. (genomeweb.com)
  • After sequencing 799 1-kilobase regulatory (H3K4me3) regions within these loci in 568 individuals, we observed accurate imputation for 89% of common variants. (ox.ac.uk)
  • Chromosome analysis is essential to exclude trisomy 13, which Meckel-Gruber syndrome mimics. (medscape.com)
  • The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. (nih.gov)
  • Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. (medscape.com)
  • Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes. (nih.gov)
  • Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3. (nih.gov)
  • CEMB-Punjab University Biopharmaceutical group has developed indigenous patented technology for the commercial production of recombinant human therapeutics proteins like interferon, peg-interferon, filgrastim and interleukins for hepatitis and cancer treatments. (edu.pk)
  • C) The transgenically labeled human 231 Luc+ breast cancer cells were orthotopically implanted in the MFP (see dashed lines) of SS IL2R γ and SS.BN3 IL2R γ rats. (comprehensivephysiology.com)
  • We've screened more than 1,275 cancer cell lines as part of the Cancer Dependency Map (DepMap). (broadinstitute.org)
  • Resolving the Pathogenesis of Anaplastic Wilms Tumors through Spatial Mapping of Cancer Cell Evolution. (lu.se)
  • Proteogenomics decodes the evolution of human ipsilateral breast cancer. (cancercentrum.se)
  • 4, 5 The process involves use of many evenly spaced polymorphic DNA markers to create landmarks across each chromosome. (bmj.com)
  • A set of 490 markers that were typed in all constituent RI sets were used as anchor loci to assemble high-resolution framework maps. (nervenet.org)
  • Two markers were randomly selected from each of the 16 yeast chromosomes. (frontiersin.org)
  • Overview of all the structural information available in the PDB for UniProt: Q13459 (Human Unconventional myosin-IXb (MYO9B)) at the PDBe-KB. (wikipedia.org)
  • Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)
  • Garcia-Diaz, M., K. Bebenek, J. M. Krahn, L. C. Pedersen, and T. A. Kunkel, 2006 Structural analysis of strand misalignment throughout DNA synthesis by a human DNA RORγ Modulator manufacturer polymerase. (caspase1inhibitor.com)
  • Isolation and identification of the structural organization of the human homeobox gene family (HOX Complex). (cnr.it)
  • Most QTL have been mapped in model organisms such as the mouse and the rat. (jax.org)
  • Physical maps of the mouse and human immunoglobulin-like loci. (nih.gov)
  • In Systems Genetics , Methods in Molecular Biology 1488:75-120 [An updated primer in using GeneNetwork for molecular analysis of mouse and human cohorts. (genenetwork.org)
  • (A) Amino acid sequence of RNases T2 from human, mouse, rabbit, fruit fly, and classical swine fever virus showing the wide evolutionary conservation of these enzymes. (frontiersin.org)
  • There is not a single pharmaceutical company in Pakistan that has the cGMP infrastructure and expertise to produce "purified recombinant human proteins" for therapeutic use. (edu.pk)
  • Compared to human population studies, an intercross creates large linkage disequilibrium (LD) blocks that greatly enhance statistical power but also reduce QTL mapping resolution. (frontiersin.org)
  • These data are now in GeneNetwork (Species = Human, Group = Retina). (genenetwork.org)
  • Little is known about inherited susceptibility to spontaneous germ cells tumours in humans or other species. (jax.org)
  • These findings are reminiscent of studies of another erythrocyte specific glycolytic enzyme, Pyruvate Kinase (PKLR), which mutational inactivation protects humans and mice against malaria through impairment of glycolysis and ATP production in erythrocytes. (bvsalud.org)
  • With the approach of linkage analysis in large families, two ARRP loci have so far been discovered: 1q31-q32.1 (8,9) and 6p, distal to RDS-peripherin (10). (molvis.org)
  • Localization and abundance analysis of human lncRNAs at single-cell and single-molecule resolution. (broadinstitute.org)
  • The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. (nih.gov)
  • Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. (nih.gov)
  • Expression analysis of the human Hox Complex in teratocarcinoma cells (N-tera2/D1) upon treatment with retinoic acid and the definition of temporal colinearity concept. (cnr.it)
  • Recently the human cardiac myosin binding protein-C (MyBP-C) gene was mapped to chromosome 11p11.2 (ref. 8), making this gene a good candidate for the fourth locus, CMH4 (ref. 5). (nih.gov)