Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

摘要: Human genetic variation is distributed nonrandomly across the genome, though principles governing its distribution are only partially known. DNA replication creates opportunities for mutation, and timing of correlates with density SNPs human genome. To enable deeper investigation how relates to mutation variation, we generated a high-resolution map genome’s program analyzed relationship point mutations, copy number variations, meiotic recombination hotspots utilized by males females. associated mutations far more strongly than predicted from earlier analyses showed stronger transversion transition mutations. Structural arising recombination-based mechanisms used extensively females were enriched in early-replicating parts these relationships appeared relate genomic causative sequence features. These results indicate differential sex-specific different forms recombination.