EDAR (ectodysplasin A receptor)
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A variant of the Ectodysplasin A Receptor (EDAR), 370A, has undergone recent positive selection. The variant is found predominantly in East Asian and Native American populations and nearly absent in individuals of European and African descent. Mouse models of 370A showed thicker hair, increased number of eccrine glands, reduced mammary fat pad size, and increased mammary gland branch density. Additionally 370A has been associated with increased scalp hair thickness and tooth morphology in humans. Timing estimates show that the allele likely arose ~300,000 years ago and reached fixation within East Asian populations by ~10,700 years ago, prior to the population of the Americas.
Modeling recent human evolution in mice by expression of a selected EDAR variant., , Cell, 2013 Feb 14, Volume 152, Issue 4, p.691-702, (2013)
A composite of multiple signals distinguishes causal variants in regions of positive selection., , Science, 2010 Feb 12, Volume 327, Issue 5967, p.883-6, (2010)
Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation., , PLoS One, 2008, Volume 3, Issue 5, p.e2209, (2008)
Genome-wide detection and characterization of positive selection in human populations., , Nature, 2007 Oct 18, Volume 449, Issue 7164, p.913-8, (2007)