Fine-scale signatures of molecular evolution reconcile models of indel-associated mutation.

ABSTRACT: Genomic structural alterations that vary within species, known as large copy number variants, represent an unanticipated and abundant source of genetic diversity that associates with variation in gene expression and susceptibility to disease. Even short insertions and deletions (indels) can exert important effects on genomes by locally increasing the mutation rate, with multiple mechanisms proposed to account for this pattern. To better understand how indels promote genome evolution, we demonstrate that the single nucleotide mutation rate is elevated in the vicinity of indels, with a resolution of tens of base pairs, for the two closely related nematode species Caenorhabditis remanei and C. sp. 23. In addition to indels being clustered with single nucleotide polymorphisms and fixed differe

SUBMITTER: Jovelin R 

PROVIDER: S-EPMC3673634 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature