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Nat Genet. 2009 Apr;41(4):393-5. doi: 10.1038/ng.363. Epub 2009 Mar 15.

Human mutation rate associated with DNA replication timing.

Author information

1
Department of Genome Sciences and Medicine, University of Washington, Seattle, WA, USA. jstam@u.washington.edu

Abstract

Eukaryotic DNA replication is highly stratified, with different genomic regions shown to replicate at characteristic times during S phase. Here we observe that mutation rate, as reflected in recent evolutionary divergence and human nucleotide diversity, is markedly increased in later-replicating regions of the human genome. All classes of substitutions are affected, suggesting a generalized mechanism involving replication time-dependent DNA damage. This correlation between mutation rate and regionally stratified replication timing may have substantial evolutionary implications.

PMID:
19287383
PMCID:
PMC2914101
DOI:
10.1038/ng.363
[Indexed for MEDLINE]
Free PMC Article

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