Sequence variants in the RNF212 gene associate with genome-wide recombination rate

The genome- wide recombination rate varies between individuals, but the mechanism controlling this variation in humans has remained elusive. A genome- wide search identified sequence variants in the 4p16.3 region correlated with recombination rate in both males and females. These variants are located in the RNF212 gene, a putative ortholog of the ZHP- 3 gene that is essential for recombinations and chiasma formation in Caenorhabditis elegans. It is noteworthy that the haplotype formed by two single- nucleotide polymorphisms ( SNPs) associated with the highest recombination rate in males is associated with a low recombination rate in females. Consequently, if the frequency of the haplotype changes, the average recombination rate will increase for one sex and decrease for the other, but the sex- averaged recombination rate of the population can stay relatively constant.