A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
Descripción del Articulo
J.M.-R. was supported by a doctoral scholarship from CONCYTEC-PERU (224–2014-FONDECYT).
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | artículo |
| Fecha de Publicación: | 2019 |
| Institución: | Consejo Nacional de Ciencia Tecnología e Innovación |
| Repositorio: | CONCYTEC-Institucional |
| Lenguaje: | inglés |
| OAI Identifier: | oai:repositorio.concytec.gob.pe:20.500.12390/487 |
| Enlace del recurso: | https://hdl.handle.net/20.500.12390/487 https://doi.org/10.1038/s41467-018-08147-0 |
| Nivel de acceso: | acceso abierto |
| Materia: | Melanin guanine nucleotide exchange factor amino acid substitution https://purl.org/pe-repo/ocde/ford#1.06.07 |
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| 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 K. Melanin guanine nucleotide exchange factor amino acid substitution https://purl.org/pe-repo/ocde/ford#1.06.07 |
| 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 |
| author |
Adhikari K. |
| author_facet |
Adhikari K. Mendoza-Revilla J. Sohail A. Fuentes-Guajardo M. Lampert J. Chacón-Duque J.C. Hurtado M. Villegas V. Granja V. Acuña-Alonzo V. Jaramillo C. Arias W. Lozano R.B. Everardo P. Gómez-Valdés J. Villamil-Ramírez H. Silva de Cerqueira C.C. Hunemeier T. Ramallo V. Schuler-Faccini L. Salzano F.M. Gonzalez-José R. Bortolini M.-C. Canizales-Quinteros S. Gallo C. Poletti G. Bedoya G. Rothhammer F. Tobin D.J. Fumagalli M. Balding D. Ruiz-Linares A. |
| author_role |
author |
| author2 |
Mendoza-Revilla J. Sohail A. Fuentes-Guajardo M. Lampert J. Chacón-Duque J.C. Hurtado M. Villegas V. Granja V. Acuña-Alonzo V. Jaramillo C. Arias W. Lozano R.B. Everardo P. Gómez-Valdés J. Villamil-Ramírez H. Silva de Cerqueira C.C. Hunemeier T. Ramallo V. Schuler-Faccini L. Salzano F.M. Gonzalez-José R. Bortolini M.-C. Canizales-Quinteros S. Gallo C. Poletti G. Bedoya G. Rothhammer F. Tobin D.J. Fumagalli M. Balding D. Ruiz-Linares A. |
| 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.contributor.author.fl_str_mv |
Adhikari K. Mendoza-Revilla J. Sohail A. Fuentes-Guajardo M. Lampert J. Chacón-Duque J.C. Hurtado M. Villegas V. Granja V. Acuña-Alonzo V. Jaramillo C. Arias W. Lozano R.B. Everardo P. Gómez-Valdés J. Villamil-Ramírez H. Silva de Cerqueira C.C. Hunemeier T. Ramallo V. Schuler-Faccini L. Salzano F.M. Gonzalez-José R. Bortolini M.-C. Canizales-Quinteros S. Gallo C. Poletti G. Bedoya G. Rothhammer F. Tobin D.J. Fumagalli M. Balding D. Ruiz-Linares A. |
| dc.subject.none.fl_str_mv |
Melanin |
| topic |
Melanin guanine nucleotide exchange factor amino acid substitution https://purl.org/pe-repo/ocde/ford#1.06.07 |
| dc.subject.es_PE.fl_str_mv |
guanine nucleotide exchange factor amino acid substitution |
| dc.subject.ocde.none.fl_str_mv |
https://purl.org/pe-repo/ocde/ford#1.06.07 |
| description |
J.M.-R. was supported by a doctoral scholarship from CONCYTEC-PERU (224–2014-FONDECYT). |
| publishDate |
2019 |
| dc.date.accessioned.none.fl_str_mv |
2024-05-30T23:13:38Z |
| dc.date.available.none.fl_str_mv |
2024-05-30T23:13:38Z |
| dc.date.issued.fl_str_mv |
2019 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.uri.none.fl_str_mv |
https://hdl.handle.net/20.500.12390/487 |
| dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.1038/s41467-018-08147-0 |
| dc.identifier.scopus.none.fl_str_mv |
2-s2.0-85060188734 |
| url |
https://hdl.handle.net/20.500.12390/487 https://doi.org/10.1038/s41467-018-08147-0 |
| identifier_str_mv |
2-s2.0-85060188734 |
| dc.language.iso.none.fl_str_mv |
eng |
| language |
eng |
| dc.relation.ispartof.none.fl_str_mv |
Nature Communications |
| dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess |
| dc.rights.uri.none.fl_str_mv |
https://creativecommons.org/licenses/by/4.0/ |
| eu_rights_str_mv |
openAccess |
| rights_invalid_str_mv |
https://creativecommons.org/licenses/by/4.0/ |
| dc.publisher.none.fl_str_mv |
Nature Publishing Group |
| publisher.none.fl_str_mv |
Nature Publishing Group |
| dc.source.none.fl_str_mv |
reponame:CONCYTEC-Institucional instname:Consejo Nacional de Ciencia Tecnología e Innovación instacron:CONCYTEC |
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Consejo Nacional de Ciencia Tecnología e Innovación |
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CONCYTEC |
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CONCYTEC |
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CONCYTEC-Institucional |
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CONCYTEC-Institucional |
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Repositorio Institucional CONCYTEC |
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repositorio@concytec.gob.pe |
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Publicationrp00552600rp00553600rp00546600rp00543600rp00545600rp00563600rp00537600rp00559600rp00551600rp00542600rp00554600rp00568600rp00555600rp00544600rp00557600rp00565600rp00564600rp00562600rp00560600rp00550600rp00566600rp00539600rp00561600rp00558600rp00547600rp00540600rp00538600rp00567600rp00548600rp00541600rp00549600rp00556600Adhikari K.Mendoza-Revilla J.Sohail A.Fuentes-Guajardo M.Lampert J.Chacón-Duque J.C.Hurtado M.Villegas V.Granja V.Acuña-Alonzo V.Jaramillo C.Arias W.Lozano R.B.Everardo P.Gómez-Valdés J.Villamil-Ramírez H.Silva de Cerqueira C.C.Hunemeier T.Ramallo V.Schuler-Faccini L.Salzano F.M.Gonzalez-José R.Bortolini M.-C.Canizales-Quinteros S.Gallo C.Poletti G.Bedoya G.Rothhammer F.Tobin D.J.Fumagalli M.Balding D.Ruiz-Linares A.2024-05-30T23:13:38Z2024-05-30T23:13:38Z2019https://hdl.handle.net/20.500.12390/487https://doi.org/10.1038/s41467-018-08147-02-s2.0-85060188734J.M.-R. was supported by a doctoral scholarship from CONCYTEC-PERU (224–2014-FONDECYT).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.Fondo Nacional de Desarrollo Científico y Tecnológico - FondecytengNature Publishing GroupNature Communicationsinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/4.0/Melaninguanine nucleotide exchange factor-1amino acid substitution-1https://purl.org/pe-repo/ocde/ford#1.06.07-1A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasiainfo:eu-repo/semantics/articlereponame:CONCYTEC-Institucionalinstname:Consejo Nacional de Ciencia Tecnología e Innovacióninstacron:CONCYTEC#PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE#20.500.12390/487oai:repositorio.concytec.gob.pe:20.500.12390/4872024-05-30 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xmlns="https://www.openaire.eu/cerif-profile/1.1/" id="a95a7bf5-c2f7-4216-8a0d-9875bae8156d"> <Type xmlns="https://www.openaire.eu/cerif-profile/vocab/COAR_Publication_Types">http://purl.org/coar/resource_type/c_1843</Type> <Language>eng</Language> <Title>A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia</Title> <PublishedIn> <Publication> <Title>Nature Communications</Title> </Publication> </PublishedIn> <PublicationDate>2019</PublicationDate> <DOI>https://doi.org/10.1038/s41467-018-08147-0</DOI> <SCP-Number>2-s2.0-85060188734</SCP-Number> <Authors> <Author> <DisplayName>Adhikari K.</DisplayName> <Person id="rp00552" /> <Affiliation> <OrgUnit> </OrgUnit> </Affiliation> </Author> <Author> <DisplayName>Mendoza-Revilla J.</DisplayName> <Person id="rp00553" /> <Affiliation> <OrgUnit> </OrgUnit> </Affiliation> </Author> <Author> <DisplayName>Sohail A.</DisplayName> <Person id="rp00546" /> <Affiliation> <OrgUnit> </OrgUnit> </Affiliation> 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<DisplayName>Poletti G.</DisplayName> <Person id="rp00540" /> <Affiliation> <OrgUnit> </OrgUnit> </Affiliation> </Author> <Author> <DisplayName>Bedoya G.</DisplayName> <Person id="rp00538" /> <Affiliation> <OrgUnit> </OrgUnit> </Affiliation> </Author> <Author> <DisplayName>Rothhammer F.</DisplayName> <Person id="rp00567" /> <Affiliation> <OrgUnit> </OrgUnit> </Affiliation> </Author> <Author> <DisplayName>Tobin D.J.</DisplayName> <Person id="rp00548" /> <Affiliation> <OrgUnit> </OrgUnit> </Affiliation> </Author> <Author> <DisplayName>Fumagalli M.</DisplayName> <Person id="rp00541" /> <Affiliation> <OrgUnit> </OrgUnit> </Affiliation> </Author> <Author> <DisplayName>Balding D.</DisplayName> <Person id="rp00549" /> <Affiliation> <OrgUnit> </OrgUnit> </Affiliation> </Author> <Author> <DisplayName>Ruiz-Linares A.</DisplayName> <Person id="rp00556" /> <Affiliation> <OrgUnit> </OrgUnit> </Affiliation> </Author> </Authors> <Editors> </Editors> <Publishers> <Publisher> <DisplayName>Nature Publishing Group</DisplayName> <OrgUnit /> </Publisher> </Publishers> <License>https://creativecommons.org/licenses/by/4.0/</License> <Keyword>Melanin</Keyword> <Keyword>guanine nucleotide exchange factor</Keyword> <Keyword>amino acid substitution</Keyword> <Abstract>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.</Abstract> <Access xmlns="http://purl.org/coar/access_right" > </Access> </Publication> -1 |
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Nota importante:
La información contenida en este registro es de entera responsabilidad de la institución que gestiona el repositorio institucional donde esta contenido este documento o set de datos. El CONCYTEC no se hace responsable por los contenidos (publicaciones y/o datos) accesibles a través del Repositorio Nacional Digital de Ciencia, Tecnología e Innovación de Acceso Abierto (ALICIA).
La información contenida en este registro es de entera responsabilidad de la institución que gestiona el repositorio institucional donde esta contenido este documento o set de datos. El CONCYTEC no se hace responsable por los contenidos (publicaciones y/o datos) accesibles a través del Repositorio Nacional Digital de Ciencia, Tecnología e Innovación de Acceso Abierto (ALICIA).
