A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

Autores: Adhikari, Kaustubh; Fontanil, Tania; Cal, Santiago; Mendoza Revilla, Javier; Fuentes Guajardo, Macarena; Chacón Duque, Juan Camilo; Al Saadi, Farah; Johansson, Jeanette A.; Quinto Sanchez, Mirsha Emmanuel; Acuña Alonzo, Victor; Jaramillo, Claudia; Arias, William; Barquera Lozano, Rodrigo; Macín Pérez, Gastón; Gómez Valdés, Jorge; Villamil Ramírez, Hugo; Hunemeier, Tábita; Ramallo, Virginia; Silva de Cerqueira, Caio Cesar; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Gallo, Carla; Poletti, Giovanni; Schuler Faccini, Lavinia; Salzano, Francisco M.; Bortolini, Maria Catira; Canizales Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; González José, Rolando; Headon, Denis; López Otín, Carlos; Tobin, Desmond J.; Balding, David; Ruiz Linares, Andrés
Año de publicación: 2016
Idioma: inglés
Tipo de recurso: artículo
Estado: versión publicada
Descripción: We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10-8 to 3 × 10-119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.
Fil: Adhikari, Kaustubh. University College London; Reino Unido
Fil: Fontanil, Tania. Universidad de Oviedo; España
Fil: Cal, Santiago. Universidad de Oviedo; España
Fil: Mendoza Revilla, Javier. University College London; Reino Unido. Universidad Peruana Cayetano Heredia; Perú
Fil: Fuentes Guajardo, Macarena. University College London; Reino Unido. Universidad de Tarapacá; Chile
Fil: Chacón Duque, Juan Camilo. University College London; Reino Unido
Fil: Al Saadi, Farah. University College London; Reino Unido
Fil: Johansson, Jeanette A.. University of Edinburgh; Reino Unido
Fil: Quinto Sanchez, Mirsha Emmanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina
Fil: Acuña Alonzo, Victor. University College London; Reino Unido. Instituto Nacional de Antropología E Historia; México
Fil: Jaramillo, Claudia. Universidad de Antioquia; Colombia
Fil: Arias, William. Universidad de Antioquia; Colombia
Fil: Barquera Lozano, Rodrigo. Instituto Nacional de Antropología E Historia; México. Universidad Nacional Autónoma de México; México
Fil: Macín Pérez, Gastón. Instituto Nacional de Antropología E Historia; México. Universidad Nacional Autónoma de México; México
Fil: Gómez Valdés, Jorge. Universidad Nacional Autónoma de México; México
Fil: Villamil Ramírez, Hugo. Universidad Nacional Autónoma de México; México
Fil: Hunemeier, Tábita. Universidade Federal do Rio Grande do Sul; Brasil. Universidade de Sao Paulo; Brasil
Fil: Ramallo, Virginia. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina
Fil: Silva de Cerqueira, Caio Cesar. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina
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: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú
Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú
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: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; México
Fil: Rothhammer, Francisco. Universidad de Tarapacá; Chile
Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia
Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina
Fil: Headon, Denis. University of Edinburgh; Reino Unido
Fil: López Otín, Carlos. Universidad de Oviedo; España
Fil: Tobin, Desmond J.. University of Bradford; Reino Unido
Fil: Balding, David. University College London; Reino Unido. University of Melbourne; Australia
Fil: Ruiz Linares, Andrés. University College London; Reino Unido
Materia: genome-wide association studies
population genetics
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:11336/39187

Acceder

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repository_id_str	3498
network_name_str	CONICET Digital (CONICET)
spelling	A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair featuresAdhikari, KaustubhFontanil, TaniaCal, SantiagoMendoza Revilla, JavierFuentes Guajardo, MacarenaChacón Duque, Juan CamiloAl Saadi, FarahJohansson, Jeanette A.Quinto Sanchez, Mirsha EmmanuelAcuña Alonzo, VictorJaramillo, ClaudiaArias, WilliamBarquera Lozano, RodrigoMacín Pérez, GastónGómez Valdés, JorgeVillamil Ramírez, HugoHunemeier, TábitaRamallo, VirginiaSilva de Cerqueira, Caio CesarHurtado, MalenaVillegas, ValeriaGranja, VanessaGallo, CarlaPoletti, GiovanniSchuler Faccini, LaviniaSalzano, Francisco M.Bortolini, Maria CatiraCanizales Quinteros, SamuelRothhammer, FranciscoBedoya, GabrielGonzález José, RolandoHeadon, DenisLópez Otín, CarlosTobin, Desmond J.Balding, DavidRuiz Linares, Andrésgenome-wide association studiespopulation geneticshttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10-8 to 3 × 10-119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.Fil: Adhikari, Kaustubh. University College London; Reino UnidoFil: Fontanil, Tania. Universidad de Oviedo; EspañaFil: Cal, Santiago. Universidad de Oviedo; EspañaFil: Mendoza Revilla, Javier. University College London; Reino Unido. Universidad Peruana Cayetano Heredia; PerúFil: Fuentes Guajardo, Macarena. University College London; Reino Unido. Universidad de Tarapacá; ChileFil: Chacón Duque, Juan Camilo. University College London; Reino UnidoFil: Al Saadi, Farah. University College London; Reino UnidoFil: Johansson, Jeanette A.. University of Edinburgh; Reino UnidoFil: Quinto Sanchez, Mirsha Emmanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; ArgentinaFil: Acuña Alonzo, Victor. University College London; Reino Unido. Instituto Nacional de Antropología E Historia; MéxicoFil: Jaramillo, Claudia. Universidad de Antioquia; ColombiaFil: Arias, William. Universidad de Antioquia; ColombiaFil: Barquera Lozano, Rodrigo. Instituto Nacional de Antropología E Historia; México. Universidad Nacional Autónoma de México; MéxicoFil: Macín Pérez, Gastón. Instituto Nacional de Antropología E Historia; México. Universidad Nacional Autónoma de México; MéxicoFil: Gómez Valdés, Jorge. Universidad Nacional Autónoma de México; MéxicoFil: Villamil Ramírez, Hugo. Universidad Nacional Autónoma de México; MéxicoFil: Hunemeier, Tábita. Universidade Federal do Rio Grande do Sul; Brasil. Universidade de Sao Paulo; BrasilFil: Ramallo, Virginia. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; ArgentinaFil: Silva de Cerqueira, Caio Cesar. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; ArgentinaFil: Hurtado, Malena. Universidad Peruana Cayetano Heredia; PerúFil: Villegas, Valeria. Universidad Peruana Cayetano Heredia; PerúFil: Granja, Vanessa. Universidad Peruana Cayetano Heredia; PerúFil: Gallo, Carla. Universidad Peruana Cayetano Heredia; PerúFil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; PerúFil: Schuler Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; BrasilFil: Salzano, Francisco M.. Universidade Federal do Rio Grande do Sul; BrasilFil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; BrasilFil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; MéxicoFil: Rothhammer, Francisco. Universidad de Tarapacá; ChileFil: Bedoya, Gabriel. Universidad de Antioquia; ColombiaFil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; ArgentinaFil: Headon, Denis. University of Edinburgh; Reino UnidoFil: López Otín, Carlos. Universidad de Oviedo; EspañaFil: Tobin, Desmond J.. University of Bradford; Reino UnidoFil: Balding, David. University College London; Reino Unido. University of Melbourne; AustraliaFil: Ruiz Linares, Andrés. University College London; Reino UnidoNature2016-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/39187Adhikari, Kaustubh; Fontanil, Tania; Cal, Santiago; Mendoza Revilla, Javier; Fuentes Guajardo, Macarena; et al.; A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features; Nature; Nature Communications; 7; 3-2016; 1-122041-1723CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1038/ncomms10815info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/ncomms10815info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T14:41:18Zoai:ri.conicet.gov.ar:11336/39187instacron: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:34982025-10-15 14:41:18.785CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv	A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
title	A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
spellingShingle	A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features Adhikari, Kaustubh genome-wide association studies population genetics
title_short	A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
title_full	A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
title_fullStr	A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
title_full_unstemmed	A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
title_sort	A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
dc.creator.none.fl_str_mv	Adhikari, Kaustubh Fontanil, Tania Cal, Santiago Mendoza Revilla, Javier Fuentes Guajardo, Macarena Chacón Duque, Juan Camilo Al Saadi, Farah Johansson, Jeanette A. Quinto Sanchez, Mirsha Emmanuel Acuña Alonzo, Victor Jaramillo, Claudia Arias, William Barquera Lozano, Rodrigo Macín Pérez, Gastón Gómez Valdés, Jorge Villamil Ramírez, Hugo Hunemeier, Tábita Ramallo, Virginia Silva de Cerqueira, Caio Cesar Hurtado, Malena Villegas, Valeria Granja, Vanessa Gallo, Carla Poletti, Giovanni Schuler Faccini, Lavinia Salzano, Francisco M. Bortolini, Maria Catira Canizales Quinteros, Samuel Rothhammer, Francisco Bedoya, Gabriel González José, Rolando Headon, Denis López Otín, Carlos Tobin, Desmond J. Balding, David Ruiz Linares, Andrés
author	Adhikari, Kaustubh
author_facet	Adhikari, Kaustubh Fontanil, Tania Cal, Santiago Mendoza Revilla, Javier Fuentes Guajardo, Macarena Chacón Duque, Juan Camilo Al Saadi, Farah Johansson, Jeanette A. Quinto Sanchez, Mirsha Emmanuel Acuña Alonzo, Victor Jaramillo, Claudia Arias, William Barquera Lozano, Rodrigo Macín Pérez, Gastón Gómez Valdés, Jorge Villamil Ramírez, Hugo Hunemeier, Tábita Ramallo, Virginia Silva de Cerqueira, Caio Cesar Hurtado, Malena Villegas, Valeria Granja, Vanessa Gallo, Carla Poletti, Giovanni Schuler Faccini, Lavinia Salzano, Francisco M. Bortolini, Maria Catira Canizales Quinteros, Samuel Rothhammer, Francisco Bedoya, Gabriel González José, Rolando Headon, Denis López Otín, Carlos Tobin, Desmond J. Balding, David Ruiz Linares, Andrés
author_role	author
author2	Fontanil, Tania Cal, Santiago Mendoza Revilla, Javier Fuentes Guajardo, Macarena Chacón Duque, Juan Camilo Al Saadi, Farah Johansson, Jeanette A. Quinto Sanchez, Mirsha Emmanuel Acuña Alonzo, Victor Jaramillo, Claudia Arias, William Barquera Lozano, Rodrigo Macín Pérez, Gastón Gómez Valdés, Jorge Villamil Ramírez, Hugo Hunemeier, Tábita Ramallo, Virginia Silva de Cerqueira, Caio Cesar Hurtado, Malena Villegas, Valeria Granja, Vanessa Gallo, Carla Poletti, Giovanni Schuler Faccini, Lavinia Salzano, Francisco M. Bortolini, Maria Catira Canizales Quinteros, Samuel Rothhammer, Francisco Bedoya, Gabriel González José, Rolando Headon, Denis López Otín, Carlos Tobin, Desmond J. Balding, David Ruiz Linares, Andrés
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 author author author author
dc.subject.none.fl_str_mv	genome-wide association studies population genetics
topic	genome-wide association studies population genetics
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 over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10-8 to 3 × 10-119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair. Fil: Adhikari, Kaustubh. University College London; Reino Unido Fil: Fontanil, Tania. Universidad de Oviedo; España Fil: Cal, Santiago. Universidad de Oviedo; España Fil: Mendoza Revilla, Javier. University College London; Reino Unido. Universidad Peruana Cayetano Heredia; Perú Fil: Fuentes Guajardo, Macarena. University College London; Reino Unido. Universidad de Tarapacá; Chile Fil: Chacón Duque, Juan Camilo. University College London; Reino Unido Fil: Al Saadi, Farah. University College London; Reino Unido Fil: Johansson, Jeanette A.. University of Edinburgh; Reino Unido Fil: Quinto Sanchez, Mirsha Emmanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Acuña Alonzo, Victor. University College London; Reino Unido. Instituto Nacional de Antropología E Historia; México Fil: Jaramillo, Claudia. Universidad de Antioquia; Colombia Fil: Arias, William. Universidad de Antioquia; Colombia Fil: Barquera Lozano, Rodrigo. Instituto Nacional de Antropología E Historia; México. Universidad Nacional Autónoma de México; México Fil: Macín Pérez, Gastón. Instituto Nacional de Antropología E Historia; México. Universidad Nacional Autónoma de México; México Fil: Gómez Valdés, Jorge. Universidad Nacional Autónoma de México; México Fil: Villamil Ramírez, Hugo. Universidad Nacional Autónoma de México; México Fil: Hunemeier, Tábita. Universidade Federal do Rio Grande do Sul; Brasil. Universidade de Sao Paulo; Brasil Fil: Ramallo, Virginia. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Silva de Cerqueira, Caio Cesar. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina 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: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú 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: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil Fil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; México Fil: Rothhammer, Francisco. Universidad de Tarapacá; Chile Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Headon, Denis. University of Edinburgh; Reino Unido Fil: López Otín, Carlos. Universidad de Oviedo; España Fil: Tobin, Desmond J.. University of Bradford; Reino Unido Fil: Balding, David. University College London; Reino Unido. University of Melbourne; Australia Fil: Ruiz Linares, Andrés. University College London; Reino Unido
description	We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10-8 to 3 × 10-119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.
publishDate	2016
dc.date.none.fl_str_mv	2016-03
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/11336/39187 Adhikari, Kaustubh; Fontanil, Tania; Cal, Santiago; Mendoza Revilla, Javier; Fuentes Guajardo, Macarena; et al.; A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features; Nature; Nature Communications; 7; 3-2016; 1-12 2041-1723 CONICET Digital CONICET
url	http://hdl.handle.net/11336/39187
identifier_str_mv	Adhikari, Kaustubh; Fontanil, Tania; Cal, Santiago; Mendoza Revilla, Javier; Fuentes Guajardo, Macarena; et al.; A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features; Nature; Nature Communications; 7; 3-2016; 1-12 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/ncomms10815 info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/ncomms10815
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eu_rights_str_mv	openAccess
rights_invalid_str_mv	https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
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dc.publisher.none.fl_str_mv	Nature
publisher.none.fl_str_mv	Nature
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repository.mail.fl_str_mv	dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

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