| Literature DB >> 18239089 |
Augustine Kong1, Gudmar Thorleifsson, Hreinn Stefansson, Gisli Masson, Agnar Helgason, Daniel F Gudbjartsson, Gudrun M Jonsdottir, Sigurjon A Gudjonsson, Sverrir Sverrisson, Theodora Thorlacius, Aslaug Jonasdottir, Gudmundur A Hardarson, Stefan T Palsson, Michael L Frigge, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Kari Stefansson.
Abstract
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.Entities:
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Year: 2008 PMID： 18239089 DOI： 10.1126/science.1152422
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728