Human mutation rate associated with DNA replication timing.

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.

SUBMITTER: Stamatoyannopoulos JA 

PROVIDER: S-EPMC2914101 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature