A macaque's-eye view of human insertions and deletions: differences in mechanisms.

ABSTRACT: Insertions and deletions (indels) cause numerous genetic diseases and lead to pronounced evolutionary differences among genomes. The macaque sequences provide an opportunity to gain insights into the mechanisms generating these mutations on a genome-wide scale by establishing the polarity of indels occurring in the human lineage since its divergence from the chimpanzee. Here we apply novel regression techniques and multiscale analyses to demonstrate an extensive regional indel rate variation stemming from local fluctuations in divergence, GC content, male and female recombination rates, proximity to telomeres, and other genomic factors. We find that both replication and, surprisingly, recombination are significantly associated with the occurrence of small indels. Intriguingly, the relative

SUBMITTER: Kvikstad EM 

PROVIDER: S-EPMC1976337 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature