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

@article{citeulike:2486816, 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. 10.1126/science.1152422}, author = {Kong, Augustine and Thorleifsson, Gudmar and Stefansson, Hreinn and Masson, Gisli and Helgason, Agnar and Gudbjartsson, Daniel F. and Jonsdottir, Gudrun M. and Gudjonsson, Sigurjon A. and Sverrisson, Sverrir and Thorlacius, Theodora and Jonasdottir, Aslaug and Hardarson, Gudmundur A. and Palsson, Stefan T. and Frigge, Michael L. and Gulcher, Jeffrey R. and Thorsteinsdottir, Unnur and Stefansson, Kari }, citeulike-article-id = {2486816}, doi = {http://dx.doi.org/10.1126/science.1152422}, journal = {Science}, keywords = {popgen, recombination}, month = {March}, number = {5868}, pages = {1398--1401}, posted-at = {2008-03-07 19:35:30}, priority = {2}, title = {Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate}, url = {http://dx.doi.org/10.1126/science.1152422}, volume = {319}, year = {2008} }

TY - JOUR ID - citeulike:2486816 L3 - citeulike-article-id:2486816 TI - Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate JF - Science VL - 319 IS - 5868 SP - 1398 EP - 1401 N2 - 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. 10.1126/science.1152422 KW - popgen KW - recombination AU - Kong, Augustine AU - Thorleifsson, Gudmar AU - Stefansson, Hreinn AU - Masson, Gisli AU - Helgason, Agnar AU - Gudbjartsson, Daniel AU - Jonsdottir, Gudrun AU - Gudjonsson, Sigurjon AU - Sverrisson, Sverrir AU - Thorlacius, Theodora AU - Jonasdottir, Aslaug AU - Hardarson, Gudmundur AU - Palsson, Stefan AU - Frigge, Michael AU - Gulcher, Jeffrey AU - Thorsteinsdottir, Unnur AU - Stefansson, Kari PY - 2008/03/07/ UR - http://dx.doi.org/10.1126/science.1152422 ER -