Ancient polymorphism and functional variation in the primate MHC-DQA1 5' cis-regulatory region.

ABSTRACT: Precise regulation of MHC gene expression is critical to vertebrate immune surveillance and response. Polymorphisms in the 5' proximal promoter region of the human class II gene HLA-DQA1 have been shown to influence its transcriptional regulation and may contribute to the pathogenesis of autoimmune diseases. We investigated the evolutionary history of this cis-regulatory region by sequencing the DQA1 5' proximal promoter region in eight nonhuman primate species. We observed unexpectedly high levels of sequence variation and multiple strong signatures of balancing selection in this region. Specifically, the considerable DQA1 promoter region diversity was characterized by abundant shared (or trans-species) polymorphism and a pronounced lack of fixed differences between species. The majority

SUBMITTER: Loisel DA 

PROVIDER: S-EPMC1637582 | biostudies-literature | 2006 Oct

REPOSITORIES: biostudies-literature