title: Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
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.
authors.affiliation: deCODE Genetics Inc, 101 Reykjavik, Iceland. kong@decode.is
authors.forename: Augustine
authors.initials: A
authors.lastname: Kong
authors.forename: Gudmar
authors.initials: G
authors.lastname: Thorleifsson
authors.forename: Hreinn
authors.initials: H
authors.lastname: Stefansson
authors.forename: Gisli
authors.initials: G
authors.lastname: Masson
authors.forename: Agnar
authors.initials: A
authors.lastname: Helgason
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Gudbjartsson
authors.forename: Gudrun M
authors.initials: GM
authors.lastname: Jonsdottir
authors.forename: Sigurjon A
authors.initials: SA
authors.lastname: Gudjonsson
authors.forename: Sverrir
authors.initials: S
authors.lastname: Sverrisson
authors.forename: Theodora
authors.initials: T
authors.lastname: Thorlacius
authors.forename: Aslaug
authors.initials: A
authors.lastname: Jonasdottir
authors.forename: Gudmundur A
authors.initials: GA
authors.lastname: Hardarson
authors.forename: Stefan T
authors.initials: ST
authors.lastname: Palsson
authors.forename: Michael L
authors.initials: ML
authors.lastname: Frigge
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Gulcher
authors.forename: Unnur
authors.initials: U
authors.lastname: Thorsteinsdottir
authors.forename: Kari
authors.initials: K
authors.lastname: Stefansson
mesh_terms: D000483:Alleles; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005220:Fathers; D005260:Female; D015894:Genome, Human; D006239:Haplotypes; D006801:Humans; D008025:Ligases; D015810:Linkage Disequilibrium; D008297:Male; D008540:Meiosis; D008969:Molecular Sequence Data; D009035:Mothers; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic; D012727:Sex Characteristics; D013573:Synaptonemal Complex / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; D008025:Ligases; C527435:RNF212 protein, human