Adaptive, convergent origins of the pygmy phenotype in African rainforest hunter-gatherers.

ABSTRACT: The evolutionary history of the human pygmy phenotype (small body size), a characteristic of African and Southeast Asian rainforest hunter-gatherers, is largely unknown. Here we use a genome-wide admixture mapping analysis to identify 16 genomic regions that are significantly associated with the pygmy phenotype in the Batwa, a rainforest hunter-gatherer population from Uganda (east central Africa). The identified genomic regions have multiple attributes that provide supporting evidence of genuine association with the pygmy phenotype, including enrichments for SNPs previously associated with stature variation in Europeans and for genes with growth hormone receptor and regulation functions. To test adaptive evolutionary hypotheses, we computed the haplotype-based integrated haplotype score (

SUBMITTER: Perry GH 

PROVIDER: S-EPMC4156716 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature