@article {315268,
	title = {Loci associated with skin pigmentation identified in African populations},
	journal = {Science},
	year = {2017},
	month = {2017/10/12},
	abstract = {<p>Despite the wide range of skin pigmentation in humans, little is known about its genetic basis in global populations. Examining ethnically diverse African genomes, we identify variants in or near SLC24A5, MFSD12, DDB1, TMEM138, OCA2 and HERC2 that are significantly associated with skin pigmentation. Genetic evidence indicates that the light pigmentation variant at SLC24A5 was introduced into East Africa by gene flow from non-Africans. At all other loci, variants associated with dark pigmentation in Africans are identical by descent in southern Asian and Australo-Melanesian populations. Functional analyses indicate that MFSD12 encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte-specific regulatory regions near DDB1/TMEM138 correlate with expression of UV response genes under selection in Eurasians.</p>
},
	doi = {10.1126/science.aan8433},
	url = {http://science.sciencemag.org/content/early/2017/10/11/science.aan8433},
	author = {Crawford, Nicholas G. and Kelly, Derek E. and Hansen, Matthew E. B. and Beltrame, Marcia H. and Fan, Shaohua and Bowman, Shanna L. and Jewett, Ethan and Ranciaro, Alessia and Thompson, Simon and Lo, Yancy and Pfeifer, Susanne P. and Jensen, Jeffrey D. and Campbell, Michael C. and Beggs, William and Hormozdiari, Farhad and Mpoloka, Sununguko Wata and Mokone, Gaonyadiwe George and Nyambo, Thomas and Wolde Meskel, Dawit and Belay, Gurja and Haut, Jake and Rothschild, Harriet and Zon, Leonard and Zhou, Yi and Kovacs, Michael A. and Xu, Mai and Zhang, Tongwu and Bishop, Kevin and Sinclair, Jason and Rivas, Cecilia and Elliot, Eugene and Choi, Jiyeon and Li, Shengchao A. and Hicks, Belynda and Burgess, Shawn and Abnet, Christian and Watkins-Chow, Dawn E. and Oceana, Elena and Song, Yun S. and Eskin, Eleazar and Brown, Kevin M. and Marks, Michael S. and Loftus, Stacie K. and Pavan, William J. and Yeager, Meredith and Chanock, Stephen and Tishkoff, Sarah}
}
