ArticleHeredity2013
Population-specific recombination sites within the human MHC region.
Article in Heredity, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Tumor Necrosis Factor (TNF) -308G>A, Nitric Oxide Synthase 3 (NOS3) +894G>T Polymorphisms and Migraine Risk: A Meta-Analysis.PloS one · 2015Pooled it
- Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank.eLife · 2024Article
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- A Comprehensive Review ofPharmaceuticals (Basel, Switzerland) · 2021Review
- HLA-DQB1 6672G>C (rs113332494) is associated with clozapine-induced neutropenia and agranulocytosis in individuals of European ancestry.Translational psychiatry · 2021Article
- Haplotype Shuffling and Dimorphic Transposable Elements in the Human Extended Major Histocompatibility Complex Class II Region.Frontiers in genetics · 2021Article
- Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank.medRxiv : the preprint server for health sciences · 2020Article
- The Genetic Mechanisms Driving Diversification of theFrontiers in immunology · 2020Review
- SNP-Density Crossover Maps of Polymorphic Transposable Elements and HLA Genes Within MHC Class I Haplotype Blocks and Junction.Frontiers in genetics · 2020Article
- HLA Correlations with Clinical Phenotypes and Risk of Metabolic Comorbidities in Singapore Chinese Psoriasis Patients.Molecular diagnosis & therapy · 2019Observational
- MHC haplotype diversity in Icelandic horses determined by polymorphic microsatellites.Genes and immunity · 2019Article
- Single haplotype admixture models using large scale HLA genotype frequencies to reproduce human admixture.Immunogenetics · 2019Article
- LDSplitDB: a database for studies of meiotic recombination hotspots in MHC using human genomic data.BMC medical genomics · 2018Article
- Hidden genomic MHC disparity between HLA-matched sibling pairs in hematopoietic stem cell transplantation.Scientific reports · 2018Article
- The evolution of the major histocompatibility complex in upstream versus downstream river populations of the longnose dace.Ecology and evolution · 2017Article
- Conserved 33-kb haplotype in the MHC class III region regulates chronic arthritis.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Intrahaplotypic Variants Differentiate Complex Linkage Disequilibrium within Human MHC Haplotypes.Scientific reports · 2015Article
- Differential recombination dynamics within the MHC of macaque species.Immunogenetics · 2014Article
- The immunodominant influenza A virus M158-66 cytotoxic T lymphocyte epitope exhibits degenerate class I major histocompatibility complex restriction in humans.Journal of virology · 2014Article
- Building pharmacogenetics into a pharmacovigilance program in Singapore: using serious skin rash as a pilot study.The pharmacogenomics journal · 2014Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic rearrangement by recombination is one of the major driving forces for genome evolution, and recombination is known to occur in non-random, discreet recombination sites within the genome. Mapping of recombination sites has proved to be difficult, particularly, in the human MHC region that is complicated by both population variation and highly polymorphic HLA genes. To overcome these problems, HLA-typed individuals from three representative populations: Asian, European and African were used to generate phased HLA haplotypes. Extended haplotype homozygosity (EHH) plots constructed from the phased haplotype data revealed discreet EHH drops corresponding to recombination events and these signatures were observed to be different for each population. Surprisingly, the majority of recombination sites detected are unique to each population, rather than being common. Unique recombination sites account for 56.8% (21/37 of total sites) in the Asian cohort, 50.0% (15/30 sites) in Europeans and 63.2% (24/38 sites) in Africans. Validation carried out at a known sperm typing recombination site of 45 kb (HLA-F-telomeric) showed that EHH was an efficient method to narrow the recombination region to 826 bp, and this was further refined to 660 bp by resequencing. This approach significantly enhanced mapping of the genomic architecture within the human MHC, and will be useful in studies to identify disease risk genes.
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