Human SNP variability and mutation rate are higher in regions of high recombination

M J Lercher, L D Hurst

Research output: Contribution to journalArticlepeer-review

263 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)337-340
Number of pages4
JournalTrends in Genetics
Volume18
Issue number7
Publication statusPublished - 2002

Fingerprint Dive into the research topics of 'Human SNP variability and mutation rate are higher in regions of high recombination'. Together they form a unique fingerprint.

Cite this