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Genetic Architecture of Skin and Eye Color in an African-European Admixed Population
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نویسنده
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beleza s. ,johnson n.a. ,candille s.i. ,absher d.m. ,coram m.a. ,lopes j. ,campos j. ,araújo i.i. ,anderson t.m. ,vilhjálmsson b.j. ,nordborg m. ,correia e silva a. ,shriver m.d. ,rocha j. ,barsh g.s. ,tang h.
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منبع
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plos genetics - 2013 - دوره : 9 - شماره : 3
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چکیده
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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. © 2013 beleza et al.
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آدرس
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department of genetics,stanford university school of medicine,stanford,ca,united states,instituto de patologia e imunologia molecular da universidade do porto (ipatimup),porto, Portugal, department of statistics,stanford university,stanford,ca, United States, department of genetics,stanford university school of medicine,stanford,ca, United States, hudsonalpha institute for biotechnology,huntsville,al, United States, department of health research and policy,stanford university school of medicine,stanford,ca, United States, instituto de patologia e imunologia molecular da universidade do porto (ipatimup),porto,portugal,centro de investigação em biodiversidade e recursos genéticos (cibio),vairão,portugal,universidade de cabo verde (uni-cv),praia,santiago, Cape Verde, instituto de patologia e imunologia molecular da universidade do porto (ipatimup),porto, Portugal, universidade de cabo verde (uni-cv),praia,santiago, Cape Verde, department of genetics,stanford university school of medicine,stanford,ca, United States, gregor mendel institute,austrian academy of sciences,vienna, Austria, gregor mendel institute,austrian academy of sciences,vienna, Austria, universidade de cabo verde (uni-cv),praia,santiago, Cape Verde, department of anthropology,the pennsylvania state university,university park,pa, United States, instituto de patologia e imunologia molecular da universidade do porto (ipatimup),porto,portugal,centro de investigação em biodiversidade e recursos genéticos (cibio),vairão,portugal,departamento de biologia,faculdade de ciências da universidade do porto,porto, Portugal, department of genetics,stanford university school of medicine,stanford,ca,united states,hudsonalpha institute for biotechnology,huntsville,al, United States, department of genetics,stanford university school of medicine,stanford,ca, United States
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Authors
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