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

Adhikari, Kaustubh; Mendoza Revilla, Javier; Sohail, Anood; Fuentes Guajardo, Macarena; Lampert, Jodie; Chacón Duque, Juan Camilo; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Acuña Alonzo, Victor; Jaramillo, Claudia; Arias, William; Lozano, Rodrigo Barquera; Everardo, Paola; Gómez Valdés, Jorge; Villamil-Ramírez, Hugo; Silva de Cerqueira, Caio C.; Hünemeier, Tábita; Ramallo, Virginia; Schuler Faccini, Lavinia; Salzano, Francisco M.; González José, Rolando; Bortolini, Maria Catira; Canizales Quinteros, Samuel; Gallo, Carla; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Tobin, Desmond J.; Fumagalli, Matteo; Balding, David; Ruiz-Linares, Andres

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

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 22...

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Autores:	Adhikari, Kaustubh, Mendoza Revilla, Javier, Sohail, Anood, Fuentes Guajardo, Macarena, Lampert, Jodie, Chacón Duque, Juan Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo, Paola, Gómez Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hünemeier, Tábita, Ramallo, Virginia, Schuler Faccini, Lavinia, Salzano, Francisco M., González José, Rolando, Bortolini, Maria Catira, Canizales Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Tobin, Desmond J., Fumagalli, Matteo, Balding, David, Ruiz-Linares, Andres
Tipo de recurso:	artículo
Estado:	Versión publicada
Fecha de publicación:	2019
País:	Argentina
Institución:	Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:	CONICET Digital (CONICET)
Idioma:	inglés
OAI Identifier:	oai:ri.conicet.gov.ar:11336/99811
Acceso en línea:	http://hdl.handle.net/11336/99811
Access Level:	acceso abierto
Palabra clave:	LATIN AMERICANS GWAS SKIN PIGMENTATION ADMIXTURE https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1

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oai_identifier_str	oai:ri.conicet.gov.ar:11336/99811
network_acronym_str	AR
network_name_str	Argentina
repository_id_str
dc.title.none.fl_str_mv	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
title	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
spellingShingle	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia Adhikari, Kaustubh LATIN AMERICANS GWAS SKIN PIGMENTATION ADMIXTURE https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1
title_short	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
title_full	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
title_fullStr	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
title_full_unstemmed	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
title_sort	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
dc.creator.none.fl_str_mv	Adhikari, Kaustubh Mendoza Revilla, Javier Sohail, Anood Fuentes Guajardo, Macarena Lampert, Jodie Chacón Duque, Juan Camilo Hurtado, Malena Villegas, Valeria Granja, Vanessa Acuña Alonzo, Victor Jaramillo, Claudia Arias, William Lozano, Rodrigo Barquera Everardo, Paola Gómez Valdés, Jorge Villamil-Ramírez, Hugo Silva de Cerqueira, Caio C. Hünemeier, Tábita Ramallo, Virginia Schuler Faccini, Lavinia Salzano, Francisco M. González José, Rolando Bortolini, Maria Catira Canizales Quinteros, Samuel Gallo, Carla Poletti, Giovanni Bedoya, Gabriel Rothhammer, Francisco Tobin, Desmond J. Fumagalli, Matteo Balding, David Ruiz-Linares, Andres
author	Adhikari, Kaustubh
author_facet	Adhikari, Kaustubh Mendoza Revilla, Javier Sohail, Anood Fuentes Guajardo, Macarena Lampert, Jodie Chacón Duque, Juan Camilo Hurtado, Malena Villegas, Valeria Granja, Vanessa Acuña Alonzo, Victor Jaramillo, Claudia Arias, William Lozano, Rodrigo Barquera Everardo, Paola Gómez Valdés, Jorge Villamil-Ramírez, Hugo Silva de Cerqueira, Caio C. Hünemeier, Tábita Ramallo, Virginia Schuler Faccini, Lavinia Salzano, Francisco M. González José, Rolando Bortolini, Maria Catira Canizales Quinteros, Samuel Gallo, Carla Poletti, Giovanni Bedoya, Gabriel Rothhammer, Francisco Tobin, Desmond J. Fumagalli, Matteo Balding, David Ruiz-Linares, Andres
author_role	author
author2	Mendoza Revilla, Javier Sohail, Anood Fuentes Guajardo, Macarena Lampert, Jodie Chacón Duque, Juan Camilo Hurtado, Malena Villegas, Valeria Granja, Vanessa Acuña Alonzo, Victor Jaramillo, Claudia Arias, William Lozano, Rodrigo Barquera Everardo, Paola Gómez Valdés, Jorge Villamil-Ramírez, Hugo Silva de Cerqueira, Caio C. Hünemeier, Tábita Ramallo, Virginia Schuler Faccini, Lavinia Salzano, Francisco M. González José, Rolando Bortolini, Maria Catira Canizales Quinteros, Samuel Gallo, Carla Poletti, Giovanni Bedoya, Gabriel Rothhammer, Francisco Tobin, Desmond J. Fumagalli, Matteo Balding, David Ruiz-Linares, Andres
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	LATIN AMERICANS GWAS SKIN PIGMENTATION ADMIXTURE https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1
topic	LATIN AMERICANS GWAS SKIN PIGMENTATION ADMIXTURE https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1
description	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.
publishDate	2019
dc.date.none.fl_str_mv	2019-12
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	http://hdl.handle.net/11336/99811 Adhikari, Kaustubh; Mendoza Revilla, Javier; Sohail, Anood; Fuentes Guajardo, Macarena; Lampert, Jodie; et al.; A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia; Nature Publishing Group; Nature Communications; 10; 1; 12-2019; 1-16 2041-1723 CONICET Digital CONICET
url	http://hdl.handle.net/11336/99811
identifier_str_mv	Adhikari, Kaustubh; Mendoza Revilla, Javier; Sohail, Anood; Fuentes Guajardo, Macarena; Lampert, Jodie; et al.; A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia; Nature Publishing Group; Nature Communications; 10; 1; 12-2019; 1-16 2041-1723 CONICET Digital CONICET
dc.language.none.fl_str_mv	eng
language	eng
dc.relation.none.fl_str_mv	info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-018-08147-0 info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/s41467-018-08147-0
dc.rights.none.fl_str_mv	info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv	openAccess
rights_invalid_str_mv	https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv	application/pdf application/pdf application/pdf
dc.publisher.none.fl_str_mv	Nature Publishing Group
publisher.none.fl_str_mv	Nature Publishing Group
dc.source.none.fl_str_mv	reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str	Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str	CONICET Digital (CONICET)
collection	CONICET Digital (CONICET)
repository.name.fl_str_mv	CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv	dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_	1799194779221753856
spelling	A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in EurasiaAdhikari, KaustubhMendoza Revilla, JavierSohail, AnoodFuentes Guajardo, MacarenaLampert, JodieChacón Duque, Juan CamiloHurtado, MalenaVillegas, ValeriaGranja, VanessaAcuña Alonzo, VictorJaramillo, ClaudiaArias, WilliamLozano, Rodrigo BarqueraEverardo, PaolaGómez Valdés, JorgeVillamil-Ramírez, HugoSilva de Cerqueira, Caio C.Hünemeier, TábitaRamallo, VirginiaSchuler Faccini, LaviniaSalzano, Francisco M.González José, RolandoBortolini, Maria CatiraCanizales Quinteros, SamuelGallo, CarlaPoletti, GiovanniBedoya, GabrielRothhammer, FranciscoTobin, Desmond J.Fumagalli, MatteoBalding, DavidRuiz-Linares, AndresLATIN AMERICANSGWASSKIN PIGMENTATIONADMIXTUREhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1We 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.Fil: Adhikari, Kaustubh. Colegio Universitario de Londres; Reino UnidoFil: Mendoza Revilla, Javier. Universidad Peruana Cayetano Heredia; Perú. Colegio Universitario de Londres; Reino UnidoFil: Sohail, Anood. University of Cambridge; Reino UnidoFil: Fuentes Guajardo, Macarena. Colegio Universitario de Londres; Reino Unido. Universidad de Tarapacá de Arica; ChileFil: Lampert, Jodie. University of Leicester; Reino UnidoFil: Chacón Duque, Juan Camilo. Colegio Universitario de Londres; Reino UnidoFil: Hurtado, Malena. Universidad Peruana Cayetano Heredia; PerúFil: Villegas, Valeria. Universidad Peruana Cayetano Heredia; PerúFil: Granja, Vanessa. Universidad Peruana Cayetano Heredia; PerúFil: Acuña Alonzo, Victor. Instituto Nacional de Antropología E Historia; México. Colegio Universitario de Londres; Reino UnidoFil: Jaramillo, Claudia. Universidad de Antioquia; ColombiaFil: Arias, William. Universidad de Antioquia; ColombiaFil: Lozano, Rodrigo Barquera. Instituto Nacional de Antropología E Historia; México. Max Planck Institute For The Science Of Human History; AlemaniaFil: Everardo, Paola. Instituto Nacional de Antropología E Historia; MéxicoFil: Gómez Valdés, Jorge. Instituto Nacional de Antropología E Historia; MéxicoFil: Villamil-Ramírez, Hugo. Instituto Nacional de Medicina Genómica; MéxicoFil: Silva de Cerqueira, Caio C.. Universidade Federal do Rio Grande do Sul; BrasilFil: Hünemeier, Tábita. Universidade Federal do Rio Grande do Sul; BrasilFil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Schuler Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; BrasilFil: Salzano, Francisco M.. Universidade Federal do Rio Grande do Sul; BrasilFil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; BrasilFil: Canizales Quinteros, Samuel. Instituto Nacional de Medicina Genómica; MéxicoFil: Gallo, Carla. Universidad Peruana Cayetano Heredia; PerúFil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; PerúFil: Bedoya, Gabriel. Universidad de Antioquia; ColombiaFil: Rothhammer, Francisco. Universidad de Tarapacá de Arica; Chile. Universidad de Chile; ChileFil: Tobin, Desmond J.. University College Dublin; Irlanda. University Of Bradford; Reino UnidoFil: Fumagalli, Matteo. Imperial College London; Reino UnidoFil: Balding, David. University of Melbourne; Australia. Colegio Universitario de Londres; Reino UnidoFil: Ruiz-Linares, Andres. Fudan University; ChinaNature Publishing Group2019-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/99811Adhikari, Kaustubh; Mendoza Revilla, Javier; Sohail, Anood; Fuentes Guajardo, Macarena; Lampert, Jodie; et al.; A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia; Nature Publishing Group; Nature Communications; 10; 1; 12-2019; 1-162041-1723CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-018-08147-0info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/s41467-018-08147-0info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2024-05-08T13:36:12Zoai:ri.conicet.gov.ar:11336/99811instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982024-05-08 13:36:13.063CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
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A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

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