Human SNP variability and mutation rate are higher in regions of high recombination.
Understanding the co-variation of nucleotide diversity and local recombination rates is important both for the mapping of disease-associated loci and in understanding the causes of sequence evolution. It is known that single nucleotide polymorphisms (SNPs) around protein coding genes show higher diversity in regions of high recombination. Here, we find that this correlation holds for SNPs across the entire human genome, the great majority of which are not near exons or control elements. Contrasting with results from coding regions, we provide evidence that the higher nucleotide diversity in regions of high recombination is most likely due, at least in part, to a higher mutation rate. One possible explanation for this is that recombination is mutagenic.
Lercher
Martin J
MJ
Dept of Biology and Biochemistry, University of Bath, BA2 7AY., Bath, UK.
Hurst
Laurence D
LD
D000818:Animals; D005075:Biological Evolution; D014644:Genetic Variation; D006801:Humans; D008957:Models, Genetic; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic; D012377:Rodentia / Q000235:genetics