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Positive Selection in East Asians for an EDAR Allele that Enhances NF-κB Activation

Stajich, Jason E., Bryk, Jarek, Hardouin, Emilie, Pugach, Irina, Hughes, David, Strotmann, Rainer, Stoneking, Mark and Myles, Sean (2008) Positive Selection in East Asians for an EDAR Allele that Enhances NF-κB Activation. PLoS ONE, 3 (5). e2209. ISSN 1932-6203

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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.

Item Type: Article
Subjects: Q Science > Q Science (General)
Q Science > QH Natural history
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Related URLs:
Depositing User: Sara Taylor
Date Deposited: 10 Sep 2015 11:24
Last Modified: 04 Nov 2015 20:34


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