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PMID: 18239089 Published · ppublish English Journal Article

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

Science (New York, N.Y.) ·Vol. 319 ·No. 5868 ·2008-03-07 ·Pages 1398-401

Kong A, Thorleifsson G, Stefansson H, Masson G, Helgason A, Gudbjartsson DF, Jonsdottir GM, Gudjonsson SA, Sverrisson S, Thorlacius T, Jonasdottir A, Hardarson GA, Palsson ST, Frigge ML, Gulcher JR, Thorsteinsdottir U, Stefansson K

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.

MeSH Terms
Alleles Chromosomes, Human, Pair 4/genetics Fathers Female Genome, Human Haplotypes Humans Ligases Linkage Disequilibrium Male Meiosis Molecular Sequence Data Mothers Polymorphism, Single Nucleotide Recombination, Genetic Sex Characteristics Synaptonemal Complex/metabolism Ubiquitin-Protein Ligases/genetics
Chemicals
Ubiquitin-Protein Ligases Ligases RNF212 protein, human
Authors & Affiliations
17 authors, click to expand affiliations / ORCID
Kong Augustine
deCODE Genetics Inc, 101 Reykjavik, Iceland. [email protected]
Thorleifsson Gudmar
Stefansson Hreinn
Masson Gisli
Helgason Agnar
Gudbjartsson Daniel F
Jonsdottir Gudrun M
Gudjonsson Sigurjon A
Sverrisson Sverrir
Thorlacius Theodora
Jonasdottir Aslaug
Hardarson Gudmundur A
Palsson Stefan T
Frigge Michael L
Gulcher Jeffrey R
Thorsteinsdottir Unnur
Stefansson Kari
Article Info
Journal
Science (New York, N.Y.)
Abbr.
Science
ISSN
1095-9203
Published
2008-03-07
Epub
2008-00-31
Pages
1398-401
Language
English
Region
United States
NLM ID
0404511
Subset
IM
Databases
GENBANK
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