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https://hdl.handle.net/10495/8477| Título : | A genome-wide association study identifies multiple loci for variation in human ear morphology |
| Autor : | Jaramillo Alzate, Claudia Milena Ruiz Linares, Andrés Arias Pérez, William Hernán Rosique Gracia, Javier Bedoya Berrío, Gabriel de Jesús Adhikari, Kaustubh Headon, Denis Balding, David Reales, Guillermo Smith, Andrew J. P. Konka, Esra Palmen, Jutta Quinto Sánchez, Mirsha Acuña Alonzo, Víctor Fuentes, Macarena Pizarro, María 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 Cátira Canizales Quinteros, Samuel Rothhammer, Francisco Calderón, Rosario Cheeseman, Michael Bhutta, Mahmood F. Humphries, Steve E. González José, Rolando |
| metadata.dc.subject.*: | Indios Norteamericanos o Nativos de Alaska American Indians or Alaska Natives Cell Line, Tumor Línea Celular Tumoral Ear Auricle Pabellón Auricular Edar Receptor Receptor Edar Genome-Wide Association Study Estudio de Asociación del Genoma Completo Genotype Genotipo Polymorphism, Single Nucleotide Polimorfismo de Nucleótido Simple T-Box Domain Proteins Proteínas de Dominio T Box White People |
| Fecha de publicación : | 2015 |
| Editorial : | Nature Research |
| Citación : | Adhikari, K., Reales, G., Smith, A. J. P., Konka, E., Palmen, J., Quinto Sánchez, M., … Ruiz Linares, A. (2015). A genome-wide association study identifies multiple loci for variation in human ear morphology. Nature Communications, 6, 1–10. DOI: http://doi.org/10.1038/ncomms8500 |
| Resumen : | ABSTRACT: Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 10 8 to 3 10 14). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1. |
| metadata.dc.identifier.eissn: | 2041-1723 |
| metadata.dc.identifier.doi: | 10.1038/ncomms8500 |
| Aparece en las colecciones: | Artículos de Revista en Ciencias Sociales |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| RealesGuillermo_2015_GenomeWideAssociation.pdf | Artículo de investigación | 3.07 MB | Adobe PDF | Visualizar/Abrir |
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