A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

doi:10.1038/s41467-017-01939-w

GSTDTAP > 资源环境科学

DOI	10.1038/s41467-017-01939-w
	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
	Adhikari, Kaustubh 1,2; Mendoza-Revilla, Javier 1,2,3; Sohail, Anood 4; Fuentes-Guajardo, Macarena 1,2,5; Lampert, Jodie 6; Chacon-Duque, Juan Camilo 1,2; Hurtado, Malena 3; Villegas, Valeria 3; Granja, Vanessa 3; Acuna-Alonzo, Victor 1,2,7; Jaramillo, Claudia 8; Arias, William 8; Barquera Lozano, Rodrigo 7,9; Everardo, Paola 7; Gomez-Valdes, Jorge 7; Villamil-Ramirez, Hugo 10; Silva de Cerqueira, Caio C.11; Hunemeier, Tabita 11; Ramallo, Virginia 11,12; Schuler-Faccini, Lavinia 11; Salzano, Francisco M.11; Gonzalez-Jose, Rolando 12; Bortolini, Maria-Catira 11; Canizales-Quinteros, Samuel 10; Gallo, Carla 3; Poletti, Giovanni 3; Bedoya, Gabriel 8; Rothhammer, Francisco 13,14; Tobin, Desmond J.15,16; Fumagalli, Matteo 17; Balding, David 1,2,18,19; Ruiz-Linares, Andres 20,20,21,22,23
	2019-01-21
发表期刊	NATURE COMMUNICATIONS
ISSN	2041-1723
出版年	2019
卷号	10
文章类型	Article
语种	英语
国家	England; Peru; Chile; Mexico; Colombia; Germany; Brazil; Argentina; Ireland; Australia; Peoples R China; France
英文摘要	We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.
领域	资源环境
收录类别	SCI-E
WOS记录号	WOS:000456164800015
WOS关键词	GENOME-WIDE ASSOCIATION ; MERCAPTOPYRUVATE SULFURTRANSFERASE ; POSITIVE SELECTION ; POLYMORPHISMS ; EUROPEANS ; LOCI ; POPULATION ; ADAPTATION ; ANCESTRY ; COLOR
WOS类目	Multidisciplinary Sciences
WOS研究方向	Science & Technology - Other Topics
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引用统计
文献类型	期刊论文
条目标识符	http://119.78.100.173/C666/handle/2XK7JSWQ/203573
专题	资源环境科学
作者单位	1.UCL, Dept Genet Evolut & Environm, London WC1E 6BT, England; 2.UCL, UCL Genet Inst, London WC1E 6BT, England; 3.Univ Peruana Cayetano Heredia, Fac Ciencias & Filosofia, Labs Invest & Desarrollo, Lima 31, Peru; 4.Univ Cambridge, Dept Genet, Cambridge CB2 3EH, England; 5.Univ Tarapaca, Fac Ciencias Salud, Dept Tecnol Med, Arica 1000000, Chile; 6.Univ Leicester, Dept Genet & Genome Biol, Leicester LE1 7RH, Leics, England; 7.Natl Inst Anthropol & Hist, Mexico City 4510, DF, Mexico; 8.Univ Antioquia, GENMOL Genet Mol, Medellin 5001000, Colombia; 9.Max Planck Inst Sci Human Hist, Dept Archaeogenet, D-07745 Jena, Germany; 10.UNAM Inst Nacl Med Genom, Fac Quim, Unidad Genom Poblac Aplicada Salud, Mexico City 4510, DF, Mexico; 11.Univ Fed Rio Grande do Sul, Dept Genet, BR-91501970 Porto Alegre, RS, Brazil; 12.Consejo Nacl Invest Cient & Tecn, Ctr Nacl Patagon, Inst Patagon Ciencias Sociales & Humanas, U9129ACD, Puerto Madryn, Argentina; 13.Univ Tarapaca, Inst Alta Invest, Arica 1000000, Chile; 14.Univ Chile, Fac Med, ICBM, Programa Genet Humana, Santiago 8320000, Chile; 15.Univ Bradford, Fac Life Sci, Ctr Skin Sci, Bradford BD7 1DP, W Yorkshire, England; 16.Univ Coll Dublin, Charles Inst Dermatol, Dublin D4, Ireland; 17.Imperial Coll London, Dept Life Sci, Silwood Pk Campus, Ascot SL5 7PY, Berks, England; 18.Univ Melbourne, Sch Biosci, Melbourne Integrat Genom, Melbourne, Vic 3010, Australia; 19.Univ Melbourne, Sch Math & Stat, Melbourne, Vic 3010, Australia; 20.Fudan Univ, Minist Educ, Key Lab Contemporary Anthropol, Shanghai 200438, Peoples R China; 21.Fudan Univ, Collaborat Innovat Ctr Genet & Dev, Sch Life Sci, Shanghai 200438, Peoples R China; 22.Fudan Univ, Human Phenome Inst, Shanghai 200438, Peoples R China; 23.Aix Marseille Univ, CNRS, EFS, ADES, F-13005 Marseille, France
推荐引用方式 GB/T 7714	Adhikari, Kaustubh,Mendoza-Revilla, Javier,Sohail, Anood,et al. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia[J]. NATURE COMMUNICATIONS,2019,10.
APA	Adhikari, Kaustubh.,Mendoza-Revilla, Javier.,Sohail, Anood.,Fuentes-Guajardo, Macarena.,Lampert, Jodie.,...&Ruiz-Linares, Andres.(2019).A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.NATURE COMMUNICATIONS,10.
MLA	Adhikari, Kaustubh,et al."A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia".NATURE COMMUNICATIONS 10(2019).