The signature of long-standing balancing selection at the human defensin beta-1 promoter.

ABSTRACT:

Background

Defensins, small endogenous peptides with antimicrobial activity, are pivotal components of the innate immune response. A large cluster of defensin genes is located on human chromosome 8p; among them the beta defensin 1 (DEFB1) promoterhas been extensively studied since discovery that specific polymorphisms and haplotypes associate with asthma and atopy, susceptibility to severe sepsis, as well as HIV and Candida infection predisposition.

Results

Here, we characterize the sequence variation and haplotype structure of the DEFB1 promoter region in six human populations. In all of them, we observed high levels of nucleotide variation, an excess of intermediate-frequency alleles, reduced population differentiation and a genealogy with common haplotypes separated by de

SUBMITTER: Cagliani R 

PROVIDER: S-EPMC2592704 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature