Directional and balancing selection in human beta-defensins.

ABSTRACT:

Background

In primates, infection is an important force driving gene evolution, and this is reflected in the importance of infectious disease in human morbidity today. The beta-defensins are key components of the innate immune system, with antimicrobial and cell signalling roles, but also reproductive functions. Here we examine evolution of beta-defensins in catarrhine primates and variation within different human populations.

Results

We show that five beta-defensin genes that do not show copy number variation in humans show evidence of positive selection in catarrhine primates, and identify specific codons that have been under selective pressure. Direct haplotyping of DEFB127 in humans suggests long-term balancing selection: there are two highly diverged haplotype clades ca

SUBMITTER: Hollox EJ 

PROVIDER: S-EPMC2373304 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature