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

被引：148

作者：

Kong, Augustine ^{[1
]}

Thorleifsson, Gudmar ^{[1
]}

Stefansson, Hreinn ^{[1
]}

Masson, Gisli ^{[1
]}

Helgason, Agnar ^{[1
]}

Gudbjartsson, Daniel F. ^{[1
]}

Jonsdottir, Gudrun M. ^{[1
]}

Gudjonsson, Sigurjon A. ^{[1
]}

Sverrisson, Sverrir ^{[1
]}

Thorlacius, Theodora ^{[1
]}

Jonasdottir, Aslaug ^{[1
]}

Hardarson, Gudmundur A. ^{[1
]}

Palsson, Stefan T. ^{[1
]}

Frigge, Michael L. ^{[1
]}

Gulcher, Jeffrey R. ^{[1
]}

Thorsteinsdottir, Unnur ^{[1
]}

Stefansson, Kari ^{[1
]}

机构：

[1] deCODE Genet Inc, IS-101 Reykjavik, Iceland

来源：

SCIENCE | 2008年 / 319卷 / 5868期

关键词：

D O I：

10.1126/science.1152422

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：1398 / 1401

页数：4

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