Genetic analysis of variation in human meiotic recombination.
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 dataset...
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Public Library of Science (PLoS)
2009-09-01
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| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000648&type=printable |
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| author | Reshmi Chowdhury Philippe R J Bois Eleanor Feingold Stephanie L Sherman Vivian G Cheung |
| author_facet | Reshmi Chowdhury Philippe R J Bois Eleanor Feingold Stephanie L Sherman Vivian G Cheung |
| author_sort | Reshmi Chowdhury |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3d41d96f680e47f4af4ec6de1c084ffc |
| institution | OA Journals |
| issn | 1553-7390 1553-7404 |
| language | English |
| publishDate | 2009-09-01 |
| publisher | Public Library of Science (PLoS) |
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| series | PLoS Genetics |
| spelling | doaj-art-3d41d96f680e47f4af4ec6de1c084ffc2025-08-20T02:32:19ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042009-09-0159e100064810.1371/journal.pgen.1000648Genetic analysis of variation in human meiotic recombination.Reshmi ChowdhuryPhilippe R J BoisEleanor FeingoldStephanie L ShermanVivian G CheungThe 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.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000648&type=printable |
| spellingShingle | Reshmi Chowdhury Philippe R J Bois Eleanor Feingold Stephanie L Sherman Vivian G Cheung Genetic analysis of variation in human meiotic recombination. PLoS Genetics |
| title | Genetic analysis of variation in human meiotic recombination. |
| title_full | Genetic analysis of variation in human meiotic recombination. |
| title_fullStr | Genetic analysis of variation in human meiotic recombination. |
| title_full_unstemmed | Genetic analysis of variation in human meiotic recombination. |
| title_short | Genetic analysis of variation in human meiotic recombination. |
| title_sort | genetic analysis of variation in human meiotic recombination |
| url | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000648&type=printable |
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