PUBLICATION
Loci associated with skin pigmentation identified in African populations
- Authors
- Crawford, N.G., Kelly, D.E., Hansen, M.E.B., Beltrame, M.H., Fan, S., Bowman, S.L., Jewett, E., Ranciaro, A., Thompson, S., Lo, Y., Pfeifer, S.P., Jensen, J.D., Campbell, M.C., Beggs, W., Hormozdiari, F., Mpoloka, S.W., Mokone, G.G., Nyambo, T., Wolde Meskel, D., Belay, G., Haut, J., Rothschild, H., Zon, L., Zhou, Y., Kovacs, M.A., Xu, M., Zhang, T., Bishop, K., Sinclair, J., Rivas, C., Elliot, E., Choi, J., Li, S.A., Hicks, B., Burgess, S., Abnet, C., Watkins-Chow, D.E., Oceana, E., Song, Y.S., Eskin, E., Brown, K.M., Marks, M.S., Loftus, S.K., Pavan, W.J., Yeager, M., Chanock, S., Tishkoff, S.
- ID
- ZDB-PUB-171016-10
- Date
- 2017
- Source
- Science (New York, N.Y.) 358(6365): (Journal)
- Registered Authors
- Abnet, Christian, Burgess, Shawn, Zhou, Yi, Zon, Leonard I.
- Keywords
- none
- MeSH Terms
-
- Africa, Eastern
- Animals
- Antiporters/genetics
- Black People/genetics*
- DNA-Binding Proteins/genetics
- Ethnicity/genetics
- Evolution, Molecular*
- Gene Flow*
- Genetic Loci*
- Genome, Human
- Genome-Wide Association Study
- Humans
- Melanins/biosynthesis
- Melanins/genetics*
- Melanins/metabolism
- Melanocytes/metabolism
- Membrane Proteins/genetics
- Mice
- Polymorphism, Single Nucleotide
- Radiation Exposure
- Skin Pigmentation/genetics*
- Suppression, Genetic
- Ultraviolet Rays
- PubMed
- 29025994 Full text @ Science
Citation
Crawford, N.G., Kelly, D.E., Hansen, M.E.B., Beltrame, M.H., Fan, S., Bowman, S.L., Jewett, E., Ranciaro, A., Thompson, S., Lo, Y., Pfeifer, S.P., Jensen, J.D., Campbell, M.C., Beggs, W., Hormozdiari, F., Mpoloka, S.W., Mokone, G.G., Nyambo, T., Wolde Meskel, D., Belay, G., Haut, J., Rothschild, H., Zon, L., Zhou, Y., Kovacs, M.A., Xu, M., Zhang, T., Bishop, K., Sinclair, J., Rivas, C., Elliot, E., Choi, J., Li, S.A., Hicks, B., Burgess, S., Abnet, C., Watkins-Chow, D.E., Oceana, E., Song, Y.S., Eskin, E., Brown, K.M., Marks, M.S., Loftus, S.K., Pavan, W.J., Yeager, M., Chanock, S., Tishkoff, S. (2017) Loci associated with skin pigmentation identified in African populations. Science (New York, N.Y.). 358(6365).
Abstract
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 South 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 ultraviolet response genes under selection in Eurasians.
Errata / Notes
This article is corrected by ZDB-PUB-220906-191 .
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping