Genome-wide scans for positive selection in humans provide a promising approach to establish links between genetic variants and adaptive phenotypes. From this approach, lists of hundreds of candidate genomic regions for positive selection have been assembled. These candidate regions are expected to contain variants that contribute to adaptive phenotypes, but few of these regions have been associated with phenotypic effects. Here we present evidence that a derived nonsynonymous substitution (370A) in EDAR, a gene involved in ectodermal development, was driven to high frequency in East Asia by positive selection prior to 10,000 years ago. With an in vitro transfection assay, we demonstrate that 370A enhances NF-κB activity. Our results suggest that 370A is a positively selected functional genetic variant that underlies an adaptive human phenotype.
We’ve blogged about EDAR before; Could it be hair form?, EDAR controls hair thickness and EDAR and hair thickness. The story here is simple, before the populations ancestral to the Native Americans had left eastern Asia a mutation on the EDAR gene swept nearly to fixation among these populations. The derived SNP in particular is correlated with the thicker hair typical of East Asians and Native Americans. In other populations (Europeans, Africans, West and South Asians as well as Papuans and Melanesians) the SNP is in an ancestral state. The main twist in this study is that they used a molecular genetic technique to show that this derived state seems to upregulate the activity of NF-κB transcription factor.
For the record, I’m really skeptical that this selective sweep occurred because the human populations of late Ice Age eastern Asia developed a really strong attraction to thick luxuriant hair with full body. The paper is Open Access, read the whole thing. Since the most interesting figure is either too small or too large, I’ve resized it appropriately and placed it below the fold.
Labels: Population genetics