Abstract：
:An adaptive variant of the human Ectodysplasin receptor, EDARV370A, is one of the strongest candidates of recent positive selection from genome-wide scans. We have modeled EDAR370A in mice and characterized its phenotype and evolutionary origins in humans. Our computational analysis suggests the allele arose in central China approximately 30,000 years ago. Although EDAR370A has been associated with increased scalp hair thickness and changed tooth morphology in humans, its direct biological significance and potential adaptive role remain unclear. We generated a knockin mouse model and find that, as in humans, hair thickness is increased in EDAR370A mice. We identify new biological targets affected by the mutation, including mammary and eccrine glands. Building on these results, we find that EDAR370A is associated with an increased number of active eccrine glands in the Han Chinese. This interdisciplinary approach yields unique insight into the generation of adaptive variation among modern humans.
journal_name
Celljournal_title
Cellauthors
Kamberov YG,Wang S,Tan J,Gerbault P,Wark A,Tan L,Yang Y,Li S,Tang K,Chen H,Powell A,Itan Y,Fuller D,Lohmueller J,Mao J,Schachar A,Paymer M,Hostetter E,Byrne E,Burnett M,McMahon AP,Thomas MG,Lieberman DE,Jindoi
10.1016/j.cell.2013.01.016subject
Has Abstractpub_date
2013-02-14 00:00:00pages
691-702issue
4eissn
0092-8674issn
1097-4172pii
S0092-8674(13)00067-6journal_volume
152pub_type
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