Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate

A Kong, G Thorleifsson, H Stefansson, G Masson… - Science, 2008 - science.org
Science, 2008science.org
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 …
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.
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