Genetic architecture of skin and eye color in an African-European admixed population
| Autor: | Magnus Nordborg, Hua Tang, Jailson Rodrigues Lopes, Marc Coram, Gregory S. Barsh, Mark D. Shriver, Joana Campos, Devin Absher, Jorge Rocha, Isabel Inês Araújo, Tovi M. Anderson, António Correia e Silva, Sandra Beleza, Nicholas A. Johnson, Bjarni J. Vilhjálmsson, Sophie I. Candille |
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| Rok vydání: | 2012 |
| Předmět: |
Evolutionary Genetics
Cancer Research Heredity lcsh:QH426-470 genetic structures Genotype Population Population genetics Black People Genome-wide association study Skin Pigmentation SLC24A5 Polymorphism Single Nucleotide White People Cape verde 03 medical and health sciences 0302 clinical medicine Eye color Cabo Verde Genetics Genome-Wide Association Studies Humans education Hair Color Molecular Biology Biology Genetics (clinical) Ecology Evolution Behavior and Systematics 030304 developmental biology 0303 health sciences education.field_of_study Evolutionary Biology biology Eye Color Human Genetics Heritability Genetic architecture lcsh:Genetics Haplotypes Albinism Oculocutaneous biology.protein 030217 neurology & neurosurgery Research Article |
| Zdroj: | PLoS Genetics PLoS Genetics, Vol 9, Iss 3, p e1003372 (2013) |
| ISSN: | 1553-7404 |
| Popis: | Variation in human skin and eye color is substantial and especially apparent in admixed populations, yet the underlying genetic architecture is poorly understood because most genome-wide studies are based on individuals of European ancestry. We study pigmentary variation in 699 individuals from Cape Verde, where extensive West African/European admixture has given rise to a broad range in trait values and genomic ancestry proportions. We develop and apply a new approach for measuring eye color, and identify two major loci (HERC2[OCA2] P = 2.3×10−62, SLC24A5 P = 9.6×10−9) that account for both blue versus brown eye color and varying intensities of brown eye color. We identify four major loci (SLC24A5 P = 5.4×10−27, TYR P = 1.1×10−9, APBA2[OCA2] P = 1.5×10−8, SLC45A2 P = 6×10−9) for skin color that together account for 35% of the total variance, but the genetic component with the largest effect (∼44%) is average genomic ancestry. Our results suggest that adjacent cis-acting regulatory loci for OCA2 explain the relationship between skin and eye color, and point to an underlying genetic architecture in which several genes of moderate effect act together with many genes of small effect to explain ∼70% of the estimated heritability. Author Summary Differences in skin and eye color are some of the most obvious traits that underlie human diversity, yet most of our knowledge regarding the genetic basis for these traits is based on the limited range of variation represented by individuals of European ancestry. We have studied a unique population in Cape Verde, an archipelago located off the West African coast, in which extensive mixing between individuals of Portuguese and West African ancestry has given rise to a broad range of phenotypes and ancestral genome proportions. Our results help to explain how genes work together to control the full range of pigmentary phenotypic diversity, provide new insight into the evolution of these traits, and provide a model for understanding other types of quantitative variation in admixed populations. |
| Databáze: | OpenAIRE |
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