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.
Highlights
Meiotic recombination is essential for cell division and is a key process that generates genetic diversity
Meiotic recombination is essential for the formation of human gametes and is a key process that generates genetic diversity
We used genotypes from high-density single nucleotide polymorphism (SNP) markers of 2,315 individuals and their children from two Caucasian samples in a genome-wide association study to identify genetic variants that influence the number of meiotic recombination events per gamete
Summary
Meiotic recombination is essential for cell division and is a key process that generates genetic diversity. It provides daughter cells with allelic compositions that differ from those of their parents. Errors in meiotic recombination lead to chromosomal abnormalities including nondisjunction; cellular processes must ensure proper meiotic recombinations [6,7]. Proteins such as those involved in double-strand DNA breaks are known to be involved in recombination; regulatory processes and mechanisms by which DNA breaks in meioses resolve into crossovers remain unknown [8,9,10]. By treating recombination rate as a quantitative trait, we can screen the genome for DNA variants that influence this process without knowing a priori the regulatory mechanisms
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