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https://hdl.handle.net/10495/41126| Título : | A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia |
| Autor : | Bedoya Berrío, Gabriel de Jesús Arias Pérez, William Hernán Jaramillo Alzate, Claudia Milena Ruíz Linares, Andrés Mendoza Revilla, Javier Sohail, Anood Fuentes Guajardo, Macarena Lampert, Jodie Chacón Duque, Juan Camilo Hurtado, Malena Villegas, Valeria Granja, Vanessa Acuña Alonzo, Víctor Barquera Lozano, Rodrigo Everardo, Paola Gómez Valdés, Jorge Villamil Ramírez, Hugo Silva de Cerqueira, Caio C. Hunemeier, Tábita Ramallo, Virginia Schuler Faccini, Lavinia Salzano, Francisco M. González José, Rolando Bortolini, Maria Cátira Canizales Quinteros, Samuel Gallo, Carla Poletti, Giovanni Rothhammer, Francisco Tobin, Desmond J. Fumagalli, Matteo Balding, David Adhikari, Kaustubh |
| metadata.dc.subject.*: | Biological Evolution Evolución Biológica Epistasis, Genetic Epistasis Genética Gene Expression Expresión Génica Gene Frequency Frecuencia de los Genes Genetics, Population Genética de Población Genome, Human Genoma Humano Genome-Wide Association Study Estudio de Asociación del Genoma Completo Guanine Nucleotide Exchange Factors Factores de Intercambio de Guanina Nucleótido Membrane Proteins Proteínas de la Membrana Membrane Transport Proteins Proteínas de Transporte de Membrana Polymorphism, Single Nucleotide Polimorfismo de Nucleótido Simple Quantitative Trait Loci Sitios de Carácter Cuantitativo Receptor, Metabotropic Glutamate 5 Receptor del Glutamato Metabotropico 5 Skin Pigmentation Pigmentación de la Piel Ubiquitin-Protein Ligases Ubiquitina-Proteína Ligasas https://id.nlm.nih.gov/mesh/D005075 https://id.nlm.nih.gov/mesh/D004843 https://id.nlm.nih.gov/mesh/D015870 https://id.nlm.nih.gov/mesh/D005787 https://id.nlm.nih.gov/mesh/D005828 https://id.nlm.nih.gov/mesh/D015894 https://id.nlm.nih.gov/mesh/D055106 https://id.nlm.nih.gov/mesh/D020662 https://id.nlm.nih.gov/mesh/D008565 https://id.nlm.nih.gov/mesh/D026901 https://id.nlm.nih.gov/mesh/D020641 https://id.nlm.nih.gov/mesh/D040641 https://id.nlm.nih.gov/mesh/D064529 https://id.nlm.nih.gov/mesh/D012880 https://id.nlm.nih.gov/mesh/D044767 |
| Fecha de publicación : | 2019 |
| Editorial : | Nature Research |
| Citación : | Adhikari K, Mendoza-Revilla J, Sohail A, Fuentes-Guajardo M, Lampert J, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Acuña-Alonzo V, Jaramillo C, Arias W, Lozano RB, Everardo P, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hunemeier T, Ramallo V, Schuler-Faccini L, Salzano FM, Gonzalez-José R, Bortolini MC, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Tobin DJ, Fumagalli M, Balding D, Ruiz-Linares A. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia. Nat Commun. 2019 Jan 21;10(1):358. doi: 10.1038/s41467-018-08147-0. |
| Resumen : | 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. |
| metadata.dc.identifier.eissn: | 2041-1723 |
| metadata.dc.identifier.doi: | 10.1038/s41467-018-08147-0 |
| Aparece en las colecciones: | Artículos de Revista en Ciencias Exactas y Naturales |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| BedoyaGabriel_2019_GWAS_Highlights_Evolution.pdf | Artículo de investigación | 3.68 MB | Adobe PDF | Visualizar/Abrir |
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