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
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/99811

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repository_id_str 3498
network_name_str CONICET Digital (CONICET)
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 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
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str 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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