L1 recombination-associated deletions generate human genomic variation.

ABSTRACT: Mobile elements have created structural variation in the human genome through their de novo insertions and post-insertional genomic rearrangements. L1 elements are a type of long interspersed element (LINE) that is dispersed at high copy numbers within most mammalian genomes. To determine the magnitude of L1 recombination-associated deletions (L1RADs), we computationally extracted L1RAD candidates by comparing the human and chimpanzee genomes and verified each of the L1RAD events by using wet-bench analyses. Through these analyses, we identified 73 human-specific L1RAD events that occurred subsequent to the divergence of the human and chimpanzee lineages. Despite their low frequency, the L1RAD events deleted approximately 450 kb of the human genome. One L1RAD event generated a large deleti

SUBMITTER: Han K 

PROVIDER: S-EPMC2614767 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature