Mostrar el registro sencillo del ítem
dc.contributor.author | Adhikari, Kaustubh | |
dc.contributor.author | Reales, Guillermo | |
dc.contributor.author | Smith, Andrew J. P. | |
dc.contributor.author | Konka, Esra | |
dc.contributor.author | Palmen, Jutta | |
dc.contributor.author | Quinto-Sanchez, Mirsha | |
dc.contributor.author | Acuna-Alonzo, Victor | |
dc.contributor.author | Jaramillo, Claudia | |
dc.contributor.author | Arias, William | |
dc.contributor.author | Fuentes, Macarena | |
dc.contributor.author | Pizarro, Maria | |
dc.contributor.author | Barquera Lozano, Rodrigo | |
dc.contributor.author | Macin Perez, Gaston | |
dc.contributor.author | Gomez-Valdes, Jorge | |
dc.contributor.author | Villamil-Ramirez, Hugo | |
dc.contributor.author | Hunemeier, Tabita | |
dc.contributor.author | Ramallo, Virginia | |
dc.contributor.author | Silva de Cerqueira, Caio C. | |
dc.contributor.author | Hurtado, Malena | |
dc.contributor.author | Villegas, Valeria | |
dc.contributor.author | Granja, Vanessa | |
dc.contributor.author | Gallo López-Aliaga, Carla Maria | |
dc.contributor.author | Poletti, Giovanni | |
dc.contributor.author | Schuler-Faccini, Lavinia | |
dc.contributor.author | Salzano, Francisco M. | |
dc.contributor.author | Bortolini, Maria-Catira | |
dc.contributor.author | Canizales-Quinteros, Samuel | |
dc.contributor.author | Rothhammer, Francisco | |
dc.contributor.author | Bedoya, Gabriel | |
dc.contributor.author | Calderon, Rosario | |
dc.contributor.author | Rosique, Javier | |
dc.contributor.author | Cheeseman, Michael | |
dc.contributor.author | Bhutta, Mahmood F. | |
dc.contributor.author | Humphries, Steve E. | |
dc.contributor.author | Gonzalez-Jose, Rolando | |
dc.contributor.author | Headon, Denis | |
dc.contributor.author | Balding, David | |
dc.contributor.author | Ruiz-Linares, Andres | |
dc.date.accessioned | 2019-02-06T14:53:07Z | |
dc.date.available | 2019-02-06T14:53:07Z | |
dc.date.issued | 2015 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12866/5370 | |
dc.description.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 x 10(-8) to 3 x 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. | en_US |
dc.language.iso | eng | |
dc.publisher | Springer Nature | |
dc.relation.ispartofseries | Nature Communications | |
dc.rights | info:eu-repo/semantics/restrictedAccess | |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es | |
dc.subject | Adolescent | en_US |
dc.subject | Adult | en_US |
dc.subject | Female | en_US |
dc.subject | Humans | en_US |
dc.subject | Male | en_US |
dc.subject | Young Adult | en_US |
dc.subject | Latin America | en_US |
dc.subject | Animals | en_US |
dc.subject | Phenotype | en_US |
dc.subject | Genotype | en_US |
dc.subject | Genome-Wide Association Study | en_US |
dc.subject | Cell Line, Tumor | en_US |
dc.subject | American Native Continental Ancestry Group/genetics | en_US |
dc.subject | European Continental Ancestry Group/genetics | en_US |
dc.subject | Mice | en_US |
dc.subject | Edar Receptor/genetics | en_US |
dc.subject | Polymorphism, Single Nucleotide | en_US |
dc.subject | Ear Auricle/anatomy & histology/embryology | en_US |
dc.subject | Homeodomain Proteins/metabolism | en_US |
dc.subject | Morphogenesis/genetics | en_US |
dc.subject | T-Box Domain Proteins/genetics/metabolism | en_US |
dc.title | A genome-wide association study identifies multiple loci for variation in human ear morphology | en_US |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | https://doi.org/10.1038/ncomms8500 | |
dc.subject.ocde | https://purl.org/pe-repo/ocde/ford#1.06.03 | |
dc.subject.ocde | https://purl.org/pe-repo/ocde/ford#1.04.00 | |
dc.subject.ocde | https://purl.org/pe-repo/ocde/ford#1.03.00 | |
dc.relation.issn | 2041-1723 |
Ficheros | Tamaño | Formato | Ver |
---|---|---|---|
No hay ficheros asociados a este ítem. |