Ancestral haplotypes: conserved population MHC haplotypes
Genetic Markers * Haplotypes* * Humans * Major Histocompatibility Complex* * Polymorphism, Genetic * Recombination, Genetic * ...
Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa
Genetic Predisposition to Disease * Genetic Therapy * Genome, Human * Homologous Recombination / genetics * Humans ... and the ability to edit the genome bring the possibility to provide definitive genetic therapy through corrected autologous ...
A neutral theory predicts multigenic aging and increased concentrations of deleterious mutations on the mitochondrial and Y...
Population genetic forces have molded the constitution of the human genome over evolutionary time, and some of the most ... Population genetic forces have molded the constitution of the human genome over evolutionary time, and some of the most ...
Genomic plasticity and rapid host switching can promote the evolution of generalism: a case study in the zoonotic pathogen...
... allowing selection to act on genes that have evolved in multiple genetic backgrounds. This can lead to ecological ... Recombination, Genetic * Selection, Genetic Grants and funding * WT_/Wellcome Trust/United Kingdom ... We then show how these predictions change in a multi-host system, with low levels of recombination, consistent with real r/m ... Here we develop a stochastic evolutionary model and show how genetic transfer of host segregating alleles, distributed as ...
X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene...
Ambiguous diagnosis can complicate genetic counselling and attempts to refine the gene location in Xq28. Marked skewing of X- ... The results indicate that no recombination between the disease locus and Xq28 loci has occurred and suggest that mosaicism is ... Ambiguous diagnosis can complicate genetic counselling and attempts to refine the gene location in Xq28. Marked skewing of X- ...
Linkage disequilibrium in the human genome
Recombination, Genetic / genetics * Reproducibility of Results * Selection, Genetic * Time Factors * United States ...
Involvement of Brca2 in DNA repair
Recombination, Genetic / physiology * Transcription Factors / genetics* * Tumor Suppressor Protein p53 / genetics * VDJ ... and genetic instability reminiscent of Bloom syndrome and Fanconi anemia. ...
Local Variation in Recombination Rates of the Honey Bee ( Apis mellifera) Genome among Samples from Six Disparate Populations
Although it is well-established that honey bees have a high recombination rate with about 20 cM/Mbp, the proximate and ultimate ... Meiotic recombination is an essential component of eukaryotic sexual reproduction but its frequency varies within and between ... Keywords: Genome evolution; crossover; genetic diversity; intra-specific variability; meiotic recombination. Grants and funding ... Local Variation in Recombination Rates of the Honey Bee ( Apis mellifera) Genome among Samples from Six Disparate Populations ...
About PAR: the distinct evolutionary dynamics of the pseudoautosomal region
Recombination, Genetic * Sex Characteristics * Sex Chromosomes / genetics* Grants and funding * BB/E020909/1/BB_/Biotechnology ...
AceView: gene:him-8, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView.
ecwm98p134] Genetic and Molecular Analysis of Meiosis *[wbg15.4p34] Sma-9 a Novel Gene in TGFb Signaling; Something Strange ... wbg16.5p20] Mapping useful GFP insertions; - evidence for local suppression of recombination *[wm2001p474] him-8 and him-5 ... wm91p165] Genetic and Molecular Analysis of dpy(y130), a Gene Essential for the Hermapbrodite Mode of Dosage Compensation *[ ... wbg8.2p11] screening for recombination-defective mutants. *[wbg9.1p69] another random walk along the sex determination pathway ...
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion...
... duplication are the reciprocal products of homologous recombination events between misaligned flanking CMT1A-REP repeats on ... patches of proximal or distal repeat specific DNA sequence indicating potential gene conversion during the exchange of genetic ... Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion ... A 1.7-kb hotspot for homologous recombination was previously identified wherein the relative risk of an exchange event is 50 ...
A locus for autosomal dominant 'pure' hereditary spastic paraplegia maps to chromosome 19q13
Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, ... Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, ... Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers ...
A gene for Meckel syndrome maps to chromosome 11q13
Our observation gives support to the clinical and genetic heterogeneity of MKS. ... maximum LOD score 4.41 at recombination fraction .01). Most interestingly, the affected fetuses of southern Tunisian ancestry ... we have recently excluded the chromosome 17 region and have suggested a genetic heterogeneity. In the present study, we report ...
The genomic basis of evolutionary differentiation among honey bees
The genetic basis of the evolutionary diversification of honey bees remains largely unknown. Here, we provide a genome-wide ... The genetic basis of the evolutionary diversification of honey bees remains largely unknown. Here, we provide a genome-wide ... and a rapidly evolving DNA repair pathway associated with high recombination rates in all Apis species. Diversification within ... Positive selection patterns across Apis reveal a trade-off between maintaining genome stability and generating genetic ...
The impact of host metapopulation structure on the population genetics of colonizing bacteria
We study the consequences of migration in terms of shared genetic variation and show by simulation that the previously used ... These inter-host transmission dynamics combine with basic evolutionary parameters such as rates of mutation and recombination, ... A stochastic neutral model incorporating heightened local transmission has been previously shown to fit closely with genetic ... population size and selection, to shape the genetic diversity within bacterial populations. Whilst many studies have focused on ...
GSM6053268: 00077E96CF; Rattus norvegicus; RNA-Seq - SRA - NCBI
The purpose of this study was to identify 30 genetic loci underlying elevated IOP using HS rats. Both male and female HS rats ( ... This 27 population is ideal for genome-wide association studies (GWAS) due to the accumulated recombinations 28 among well- ... Due to its 24 complex, multifactorial nature, genetic predisposition is not completely understood thus, there is an urgent 25 ... Elevated intraocular pressure (IOP) is influenced by environmental and genetic factors. It is associated with 23 multiple ...
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation...
... and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using ... Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation ... Interpretation: Genetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH ... The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for ...
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and...
By analysis of genetic recombinations, one of these mutations identified in a large family allowed us to refine the ... and we provide new tools for the genetic analysis of patients with familial hypertrophic cardiomyopathy. ... localization of the MYL2 gene on the genetic map, in an interval of 6 cM containing six informative microsatellite markers. In ...
VPREB1 V-set pre-B cell surrogate light chain 1 [Homo sapiens (human)] - Gene - NCBI
VPREB1 focal deletions are common in B-ALL and occur independent of V(D)J light chain recombination. Focal deletions of VPREB1 ... Title: New genetic associations detected in a host response study to hepatitis B vaccine. ... Find tests for this gene in the NIH Genetic Testing Registry (GTR) ...
Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci
A comprehensive dissection of the genetic etiology of UC needs to assess the contribution of rare genetic variants including ... Break-point mapping of the deleted region suggested non-allelic homologous recombination as the mechanism underlying its ...
No signal of deleterious mutation accumulation in conserved gene sequences of extant asexual hexapods
Loss of sex and recombination is generally assumed to impede the effectiveness of purifying selection and to result in the ... Loss of sex and recombination is generally assumed to impede the effectiveness of purifying selection and to result in the ... Selection, Genetic * Silent Mutation * Species Specificity Associated data * Dryad/10.5061/dryad.5501rv4 ...
A yeast-endonuclease-generated DNA break induces antigenic switching in Trypanosoma brucei
VSG switching is thought to occur predominantly through gene conversion, a form of homologous recombination initiated by a DNA ... Models, Genetic* * Polymerase Chain Reaction * Saccharomyces cerevisiae / enzymology * Saccharomyces cerevisiae / genetics * ...
Mishiba K[au] - Search Results - PubMed
Genetic engineering of eggplant accumulating β-carotene in fruit. Mishiba KI, Nishida K, Inoue N, Fujiwara T, Teranishi S, ... CRISPR/Cas9-mediated homologous recombination in tobacco. Hirohata A, Sato I, Kaino K, Iwata Y, Koizumi N, Mishiba KI. Hirohata ...
Arabidopsis homologues of the histone chaperone ASF1 are crucial for chromatin replication and cell proliferation in plant...
1 State Key Laboratory of Genetic Engineering, Department of Biochemistry, Institute of Plant Biology, School of Life Sciences ... PARP1 and PARP2 as well as several genes of the homologous recombination (HR) pathway but not genes of the non-homologous end ...
ERCC6 ERCC excision repair 6, chromatin remodeling factor [Homo sapiens (human)] - Gene - NCBI
Genetic Association of ERCC6 rs2228526 Polymorphism with the Risk of Cancer: Evidence from a Meta-Analysis. Title: Genetic ... involved_in positive regulation of double-strand break repair via homologous recombination IMP Inferred from Mutant Phenotype. ... Genetic Association of ERCC6 rs2228526 Polymorphism with the Risk of Cancer: Evidence from a Meta-Analysis. Lin X, et al. ... Title: Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and ...
PubMed (Bookshelf cited) for id: 10819 - Search Results - PubMed
Human RecQ helicases in DNA repair, recombination, and replication. Croteau DL, Popuri V, Opresko PL, Bohr VA. Croteau DL, et ... The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic ...
NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase [Homo sapiens (human)] - Gene - NCBI
The Yin and Yang of the MMS21-SMC5/6 SUMO ligase complex in homologous recombination. Potts PR. DNA Repair (Amst), 2009 Apr 5. ... Find tests for this gene in the NIH Genetic Testing Registry (GTR) ... involved_in double-strand break repair via homologous recombination IBA Inferred from Biological aspect of Ancestor. more info ... involved_in double-strand break repair via homologous recombination IMP Inferred from Mutant Phenotype. more info ...
Hoang T[au] - Search Results - PubMed
Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids. ... Multiomic analysis of homologous recombination-deficient end-stage high-grade serous ovarian cancer. Burdett NL, Willis MO, ...
ZNF672 zinc finger protein 672 [Homo sapiens (human)] - Gene - NCBI
UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair. Huang Q, et al. FASEB J, ... Find tests for this gene in the NIH Genetic Testing Registry (GTR) ...
DDX60 DExD/H-box helicase 60 [Homo sapiens (human)] - Gene - NCBI
Dob10; Superfamily II RNA helicase [Replication, recombination and repair]. * XM_024454133.2 → XP_024309901.1 probable ATP- ... Find tests for this gene in the NIH Genetic Testing Registry (GTR) ... Dob10; Superfamily II RNA helicase [Replication, recombination and repair]. * XM_011532104.4 → XP_011530406.1 probable ATP- ...