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Genetic analysis of variation in human meiotic recombination

Chowdhury, R and Bois, PRJ and Feingold, E and Sherman, SL and Cheung, VG (2009) Genetic analysis of variation in human meiotic recombination. PLoS Genetics, 5 (9). ISSN 1553-7390

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Abstract

The number of recombination events per meiosis varies extensively among individuals. This recombination phenotype differs between female and male, and also among individuals of each gender. In this study, we used high-density SNP genotypes of over 2,300 individuals and their offspring in two datasets to characterize recombination landscape and to map the genetic variants that contribute to variation in recombination phenotypes. We found six genetic loci that are associated with recombination phenotypes. Two of these (RNF212 and an inversion on chromosome 17q21.31) were previously reported in the Icelandic population, and this is the first replication in any other population. Of the four newly identified loci (KIAA1462, PDZK1, UGCG, NUB1), results from expression studies provide support for their roles in meiosis. Each of the variants that we identified explains only a small fraction of the individual variation in recombination. Notably, we found different sequence variants associated with female and male recombination phenotypes, suggesting that they are regulated by different genes. Characterization of genetic variants that influence natural variation in meiotic recombination will lead to a better understanding of normal meiotic events as well as of non-disjunction, the primary cause of pregnancy loss. © 2009 Chowdhury et al.

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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Chowdhury, R
Bois, PRJ
Feingold, Efeingold@pitt.eduFEINGOLD
Sherman, SL
Cheung, VG
Contributors:
ContributionContributors NameEmailPitt UsernameORCID
EditorCopenhaver, Gregory P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Date: 1 September 2009
Date Type: Publication
Journal or Publication Title: PLoS Genetics
Volume: 5
Number: 9
DOI or Unique Handle: 10.1371/journal.pgen.1000648
Schools and Programs: School of Public Health > Biostatistics
School of Public Health > Human Genetics
Refereed: Yes
ISSN: 1553-7390
MeSH Headings: Autistic Disorder--genetics; Female; Gene Expression Regulation; Genetic Markers; Genetic Variation; Genome, Human--genetics; Genome-Wide Association Study; Humans; Male; Meiosis--genetics; Myocardium--metabolism; Phenotype; Quantitative Trait Loci--genetics; Recombination, Genetic; Reproducibility of Results
Other ID: NLM PMC2730532
PubMed Central ID: PMC2730532
PubMed ID: 19763160
Date Deposited: 03 Aug 2012 16:13
Last Modified: 04 Feb 2019 19:55
URI: http://d-scholarship.pitt.edu/id/eprint/13274

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