Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication




Journal article



Publication Date





94 - 100


Animals, Evolution, Molecular, Genetic Variation, Homeodomain Proteins, Humans, Intracellular Signaling Peptides and Proteins, Mutation, Pan troglodytes, Polymorphism, Genetic, Proteins, R-SNARE Proteins, Recombination, Genetic, Short Stature Homeobox Protein, Transcription Factors