CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.

ABSTRACT: Copy number variation (CNV) in the human genome is of vital importance to human health and evolution of our species. However, much of the molecular basis of CNV mutagenesis remains to be elucidated. Considering the DNA replication model of 'fork stalling and template switching' for CNV formation, we hypothesized that replication fork progression could be important for CNV mutagenesis. However, molecular assays of replication fork progression at the genome level are technically challenging. Instead, we conducted an estimation of DNA replication dynamics, as the statistic R, using the readily available data of replication timing. Small R-values can reflect 'slowed' replication, which could result from less fork initiation, reduced fork speed or fork barriers. We generated genome-wide profile

SUBMITTER: Chen L 

PROVIDER: S-EPMC4381758 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature