Repair-mediated duplication by capture of proximal chromosomal DNA has shaped vertebrate genome evolution.

ABSTRACT: DNA double-strand breaks (DSBs) are a common form of cellular damage that can lead to cell death if not repaired promptly. Experimental systems have shown that DSB repair in eukaryotic cells is often imperfect and may result in the insertion of extra chromosomal DNA or the duplication of existing DNA at the breakpoint. These events are thought to be a source of genomic instability and human diseases, but it is unclear whether they have contributed significantly to genome evolution. Here we developed an innovative computational pipeline that takes advantage of the repetitive structure of genomes to detect repair-mediated duplication events (RDs) that occurred in the germline and created insertions of at least 50 bp of genomic DNA. Using this pipeline we identified over 1,000 probable RDs in

SUBMITTER: Pace JK 

PROVIDER: S-EPMC2671141 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature