Human polymorphism and human-chimpanzee divergence in pseudoautosomal region correlate with local recombination rate.
Previous studies have shown widespread correlation between nucleotide polymorphism and recombination rate, but the cause of this correlation is unresolved. One explanation is that recombination is associated with point mutations, potentially through mutagenic effects of meiotic crossover. This hypothesis predicts that regions of frequent recombination should show both elevated nucleotide diversity within a species and increased nucleotide divergence between species. Here we tested this hypothesis by studying the human short-arm pseudoautosomal region (PAR1), which recombines between X and Y chromosomes in men at a rate approximately 20 times the genome average. We sequenced dispersed intronic loci within PAR1 in a panel of humans and in the chimpanzee and directly measured sequence variation and recombination rate from these data. In line with previous reports, we saw a correlation between human polymorphism level and local recombination rate. Moreover, we also found a highly significant correlation between human-chimpanzee divergence and recombination rate. These results are consistent with the hypothesis that recombination is associated with point mutations, possibly because recombination is mutagenic.
Bussell
Jennifer J
JJ
Howard Hughes Medical Institute, Department of Human Genetics, University of Chicago, 920 East 58th Street, Chicago, IL 60637, USA.
Pearson
Nathaniel M
NM
Kanda
Ravinder
R
Filatov
Dmitry A
DA
Lahn
Bruce T
BT
D000818:Animals; D019143:Evolution, Molecular; D014644:Genetic Variation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation / Q000235:genetics*; D002679:Pan troglodytes / Q000235:genetics; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics; D050683:R-SNARE Proteins / Q000235:genetics; D011995:Recombination, Genetic; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors / Q000235:genetics
D018398:Homeodomain Proteins; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; D050683:R-SNARE Proteins; C106071:SHOX protein, human; C407225:SPRY3 protein, human; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors; C121241:VAMP7 protein, human