Variation in human recombination rates and its genetic determinants.

ABSTRACT:

Background

Despite the fundamental role of crossing-over in the pairing and segregation of chromosomes during human meiosis, the rates and placements of events vary markedly among individuals. Characterizing this variation and identifying its determinants are essential steps in our understanding of the human recombination process and its evolution.

Study design/results

Using three large sets of European-American pedigrees, we examined variation in five recombination phenotypes that capture distinct aspects of crossing-over patterns. We found that the mean recombination rate in males and females and the historical hotspot usage are significantly heritable and are uncorrelated with one another. We then conducted a genome-wide association study in order to identify loci that in

SUBMITTER: Fledel-Alon A 

PROVIDER: S-EPMC3117798 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature