Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
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.
Kong
Augustine
A
deCODE Genetics Inc, 101 Reykjavik, Iceland. kong@decode.is
Thorleifsson
Gudmar
G
Stefansson
Hreinn
H
Masson
Gisli
G
Helgason
Agnar
A
Gudbjartsson
Daniel F
DF
Jonsdottir
Gudrun M
GM
Gudjonsson
Sigurjon A
SA
Sverrisson
Sverrir
S
Thorlacius
Theodora
T
Jonasdottir
Aslaug
A
Hardarson
Gudmundur A
GA
Palsson
Stefan T
ST
Frigge
Michael L
ML
Gulcher
Jeffrey R
JR
Thorsteinsdottir
Unnur
U
Stefansson
Kari
K
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*
D044767:Ubiquitin-Protein Ligases; D008025:Ligases; C527435:RNF212 protein, human