Scientific Publications

Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant.

Publication TypeJournal Article
AuthorsKamberov, 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, Jin L., Tabin CJ, Morgan BA, and Sabeti PC
AbstractAn 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. PAPERFLICK:
Year of Publication2013
JournalCell
Volume152
Issue4
Pages691-702
Date Published (YYYY/MM/DD)2013/02/14
ISSN Number0092-8674
DOI10.1016/j.cell.2013.01.016
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/23415220?dopt=Abstract