Differential relationship of DNA replication timing to different forms of human mutation and variation.

ABSTRACT: Human genetic variation is distributed nonrandomly across the genome, though the principles governing its distribution are only partially known. DNA replication creates opportunities for mutation, and the timing of DNA replication correlates with the density of SNPs across the human genome. To enable deeper investigation of how DNA replication timing relates to human mutation and variation, we generated a high-resolution map of the human genome's replication timing program and analyzed its relationship to point mutations, copy number variations, and the meiotic recombination hotspots utilized by males and females. DNA replication timing associated with point mutations far more strongly than predicted from earlier analyses and showed a stronger relationship to transversion than transition m

SUBMITTER: Koren A 

PROVIDER: S-EPMC3516607 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature