Population genomic analysis of ALMS1 in humans reveals a surprisingly complex evolutionary history.

ABSTRACT: Mutations in the human gene ALMS1 result in Alström Syndrome, which presents with early childhood obesity and insulin resistance leading to Type 2 diabetes. Previous genomewide scans for selection in the HapMap data based on linkage disequilibrium and population structure suggest that ALMS1 was subject to recent positive selection. Through a detailed population genomic analysis of existing genomewide data sets and new resequencing data obtained in geographically diverse populations, we find that the signature of selection at ALMS1 is considerably more complex than what would be expected for an idealized model of a selective sweep acting on a newly arisen advantageous mutation. Specifically, we observed three highly divergent and globally dispersed haplogroups, two of which carry a set of s

SUBMITTER: Scheinfeldt LB 

PROVIDER: S-EPMC2734137 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature