A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
- 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
- Año de publicación
- 2019
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- 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.
Fil: Adhikari, Kaustubh. Colegio Universitario de Londres; Reino Unido
Fil: Mendoza Revilla, Javier. Universidad Peruana Cayetano Heredia; Perú. Colegio Universitario de Londres; Reino Unido
Fil: Sohail, Anood. University of Cambridge; Reino Unido
Fil: Fuentes Guajardo, Macarena. Colegio Universitario de Londres; Reino Unido. Universidad de Tarapacá de Arica; Chile
Fil: Lampert, Jodie. University of Leicester; Reino Unido
Fil: Chacón Duque, Juan Camilo. Colegio Universitario de Londres; Reino Unido
Fil: Hurtado, Malena. Universidad Peruana Cayetano Heredia; Perú
Fil: Villegas, Valeria. Universidad Peruana Cayetano Heredia; Perú
Fil: Granja, Vanessa. Universidad Peruana Cayetano Heredia; Perú
Fil: Acuña Alonzo, Victor. Instituto Nacional de Antropología E Historia; México. Colegio Universitario de Londres; Reino Unido
Fil: Jaramillo, Claudia. Universidad de Antioquia; Colombia
Fil: Arias, William. Universidad de Antioquia; Colombia
Fil: Lozano, Rodrigo Barquera. Instituto Nacional de Antropología E Historia; México. Max Planck Institute For The Science Of Human History; Alemania
Fil: Everardo, Paola. Instituto Nacional de Antropología E Historia; México
Fil: Gómez Valdés, Jorge. Instituto Nacional de Antropología E Historia; México
Fil: Villamil-Ramírez, Hugo. Instituto Nacional de Medicina Genómica; México
Fil: Silva de Cerqueira, Caio C.. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Hünemeier, Tábita. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina
Fil: Schuler Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Salzano, Francisco M.. Universidade Federal do Rio Grande do Sul; Brasil
Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina
Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Canizales Quinteros, Samuel. Instituto Nacional de Medicina Genómica; México
Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú
Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú
Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia
Fil: Rothhammer, Francisco. Universidad de Tarapacá de Arica; Chile. Universidad de Chile; Chile
Fil: Tobin, Desmond J.. University College Dublin; Irlanda. University Of Bradford; Reino Unido
Fil: Fumagalli, Matteo. Imperial College London; Reino Unido
Fil: Balding, David. University of Melbourne; Australia. Colegio Universitario de Londres; Reino Unido
Fil: Ruiz-Linares, Andres. Fudan University; China - Materia
-
LATIN AMERICANS
GWAS
SKIN PIGMENTATION
ADMIXTURE - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/99811
Ver los metadatos del registro completo
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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 Técnicas2025-09-29T09:37:23Zoai: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:34982025-09-29 09:37:23.612CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
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 |
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 |
topic |
LATIN AMERICANS GWAS SKIN PIGMENTATION ADMIXTURE |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1 |
dc.description.none.fl_txt_mv |
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. Fil: Adhikari, Kaustubh. Colegio Universitario de Londres; Reino Unido Fil: Mendoza Revilla, Javier. Universidad Peruana Cayetano Heredia; Perú. Colegio Universitario de Londres; Reino Unido Fil: Sohail, Anood. University of Cambridge; Reino Unido Fil: Fuentes Guajardo, Macarena. Colegio Universitario de Londres; Reino Unido. Universidad de Tarapacá de Arica; Chile Fil: Lampert, Jodie. University of Leicester; Reino Unido Fil: Chacón Duque, Juan Camilo. Colegio Universitario de Londres; Reino Unido Fil: Hurtado, Malena. Universidad Peruana Cayetano Heredia; Perú Fil: Villegas, Valeria. Universidad Peruana Cayetano Heredia; Perú Fil: Granja, Vanessa. Universidad Peruana Cayetano Heredia; Perú Fil: Acuña Alonzo, Victor. Instituto Nacional de Antropología E Historia; México. Colegio Universitario de Londres; Reino Unido Fil: Jaramillo, Claudia. Universidad de Antioquia; Colombia Fil: Arias, William. Universidad de Antioquia; Colombia Fil: Lozano, Rodrigo Barquera. Instituto Nacional de Antropología E Historia; México. Max Planck Institute For The Science Of Human History; Alemania Fil: Everardo, Paola. Instituto Nacional de Antropología E Historia; México Fil: Gómez Valdés, Jorge. Instituto Nacional de Antropología E Historia; México Fil: Villamil-Ramírez, Hugo. Instituto Nacional de Medicina Genómica; México Fil: Silva de Cerqueira, Caio C.. Universidade Federal do Rio Grande do Sul; Brasil Fil: Hünemeier, Tábita. Universidade Federal do Rio Grande do Sul; Brasil Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Schuler Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; Brasil Fil: Salzano, Francisco M.. Universidade Federal do Rio Grande do Sul; Brasil Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil Fil: Canizales Quinteros, Samuel. Instituto Nacional de Medicina Genómica; México Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia Fil: Rothhammer, Francisco. Universidad de Tarapacá de Arica; Chile. Universidad de Chile; Chile Fil: Tobin, Desmond J.. University College Dublin; Irlanda. University Of Bradford; Reino Unido Fil: Fumagalli, Matteo. Imperial College London; Reino Unido Fil: Balding, David. University of Melbourne; Australia. Colegio Universitario de Londres; Reino Unido Fil: Ruiz-Linares, Andres. Fudan University; China |
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 |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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 |
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1844613177256443904 |
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13.070432 |