Por favor, use este identificador para citar o enlazar este ítem:
https://hdl.handle.net/10495/34948| Título : | A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features |
| Autor : | Jaramillo Alzate, Claudia Milena 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 Acuña Alonzo, Victor Arias Pérez, William Hernán Barquera Lozano, Rodrigo Macín Pérez, Gastón Gómez Valdés, Jorge Villamil Ramírez, Hugo Hunemeier, Tábita Ramallo, Virginia Silva de Cerqueira, Caio C. Hurtado, Malena Villegas, Valeria Granja, Vanessa Gallo, Carla Poletti, Giovanni Schuler Faccini, Lavinia Salzano, Francisco M. Bortolini, Maria Cátira Canizales Quinteros, Samuel Rothhammer, Francisco Bedoya Berrío, Gabriel de Jesús González José, Rolando Headon, Denis López Otín, Carlos Tobin, Desmond J. Balding, David Ruiz Linares, Andrés |
| metadata.dc.subject.*: | Cara - fisiología Face - physiology Regulación de la Expresión Génica - fisiología Gene Expression Regulation - physiology Variación Genética Genetic Variation Estudio de Asociación del Genoma Completo Genome-Wide Association Study Cabello - crecimiento y desarrollo Hair - growth and development Grupos Raciales Racial Groups Cuero Cabelludo - fisiología Scalp - physiology |
| Fecha de publicación : | 2016 |
| Editorial : | Nature Research |
| Citación : | Adhikari K, Fontanil T, Cal S, Mendoza-Revilla J, Fuentes-Guajardo M, Chacón-Duque JC, Al-Saadi F, Johansson JA, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Gonzalez-José R, Headon D, López-Otín C, Tobin DJ, Balding D, Ruiz-Linares A. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun. 2016 Mar 1;7:10815. doi: 10.1038/ncomms10815. |
| Resumen : | ABSTRACT: 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. |
| metadata.dc.identifier.eissn: | 2041-1723 |
| metadata.dc.identifier.doi: | 10.1038/ncomms10815 |
| Aparece en las colecciones: | Artículos de Revista en Ciencias Exactas y Naturales |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| JaramilloClaudia_2016_AGenomeWide.pdf | Artículo de investigación | 2.29 MB | Adobe PDF | Visualizar/Abrir |
Este ítem está sujeto a una licencia Creative Commons Licencia Creative Commons
