dc.contributor.author | Adhikari, K. | |
dc.contributor.author | Mendoza-Revilla, J. | |
dc.contributor.author | Sohail, A. | |
dc.contributor.author | Fuentes-Guajardo, M. | |
dc.contributor.author | Lampert, J. | |
dc.contributor.author | Chacón-Duque, J.C. | |
dc.contributor.author | Hurtado, M. | |
dc.contributor.author | Villegas, V. | |
dc.contributor.author | Granja, V. | |
dc.contributor.author | Acuña-Alonzo, V. | |
dc.contributor.author | Jaramillo, C. | |
dc.contributor.author | Arias, W. | |
dc.contributor.author | Lozano, R.B. | |
dc.contributor.author | Everardo, P. | |
dc.contributor.author | Gómez-Valdés, J. | |
dc.contributor.author | Villamil-Ramírez, H. | |
dc.contributor.author | Silva de Cerqueira, C.C. | |
dc.contributor.author | Hunemeier, T. | |
dc.contributor.author | Ramallo, V. | |
dc.contributor.author | Schuler-Faccini, L. | |
dc.contributor.author | Salzano, F.M. | |
dc.contributor.author | Gonzalez-José, R. | |
dc.contributor.author | Bortolini, M.-C. | |
dc.contributor.author | Canizales-Quinteros, S. | |
dc.contributor.author | Gallo López-Aliaga, Carla Maria | |
dc.contributor.author | Poletti, G. | |
dc.contributor.author | Bedoya, G. | |
dc.contributor.author | Rothhammer, F. | |
dc.contributor.author | Tobin, D.J. | |
dc.contributor.author | Fumagalli, M. | |
dc.contributor.author | Balding, D. | |
dc.contributor.author | Ruiz-Linares, A. | |
dc.date.accessioned | 2019-12-06T21:02:56Z | |
dc.date.available | 2019-12-06T21:02:56Z | |
dc.date.issued | 2019 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12866/7500 | |
dc.description.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. | 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 | allele | en_US |
dc.subject | Alleles | en_US |
dc.subject | amino acid substitution | en_US |
dc.subject | Article | en_US |
dc.subject | Asian continental ancestry group | en_US |
dc.subject | Asian Continental Ancestry Group | en_US |
dc.subject | binding site | en_US |
dc.subject | Biological Evolution | en_US |
dc.subject | carrier protein | en_US |
dc.subject | Caucasian | en_US |
dc.subject | chromosome 1q | en_US |
dc.subject | chromosome 20q | en_US |
dc.subject | chromosome 22q | en_US |
dc.subject | controlled study | en_US |
dc.subject | convergent evolution | en_US |
dc.subject | epistasis | en_US |
dc.subject | Epistasis, Genetic | en_US |
dc.subject | ethnic group | en_US |
dc.subject | Ethnic Groups | en_US |
dc.subject | European Continental Ancestry Group | en_US |
dc.subject | evolution | en_US |
dc.subject | exon | en_US |
dc.subject | eye color | en_US |
dc.subject | Eye Color | en_US |
dc.subject | female | en_US |
dc.subject | Female | en_US |
dc.subject | gene expression | en_US |
dc.subject | Gene Expression | en_US |
dc.subject | gene frequency | en_US |
dc.subject | Gene Frequency | en_US |
dc.subject | gene linkage disequilibrium | en_US |
dc.subject | gene locus | en_US |
dc.subject | genetic association | en_US |
dc.subject | genetics | en_US |
dc.subject | Genetics, Population | en_US |
dc.subject | genome-wide association study | en_US |
dc.subject | Genome-Wide Association Study | en_US |
dc.subject | Genome, Human | en_US |
dc.subject | GRM5 protein, human | en_US |
dc.subject | guanine nucleotide exchange factor | en_US |
dc.subject | Guanine Nucleotide Exchange Factors | en_US |
dc.subject | hair root | en_US |
dc.subject | HERC2 protein, human | en_US |
dc.subject | human | en_US |
dc.subject | human cell | en_US |
dc.subject | human experiment | en_US |
dc.subject | human genome | en_US |
dc.subject | human tissue | en_US |
dc.subject | Humans | en_US |
dc.subject | immunohistochemistry | en_US |
dc.subject | intron | en_US |
dc.subject | Latin America | en_US |
dc.subject | Latin American medicine | en_US |
dc.subject | male | en_US |
dc.subject | Male | en_US |
dc.subject | medical photography | en_US |
dc.subject | melanin | en_US |
dc.subject | melanocyte | en_US |
dc.subject | membrane protein | en_US |
dc.subject | Membrane Proteins | en_US |
dc.subject | Membrane Transport Proteins | en_US |
dc.subject | metabotropic receptor 5 | en_US |
dc.subject | MFSD12 protein, human | en_US |
dc.subject | normal human | en_US |
dc.subject | OCA2 protein, human | en_US |
dc.subject | phenotype | en_US |
dc.subject | phenotypic variation | en_US |
dc.subject | Polymorphism, Single Nucleotide | en_US |
dc.subject | population genetics | en_US |
dc.subject | Quantitative Trait Loci | en_US |
dc.subject | quantitative trait locus | en_US |
dc.subject | Receptor, Metabotropic Glutamate 5 | en_US |
dc.subject | single nucleotide polymorphism | en_US |
dc.subject | skin color | en_US |
dc.subject | skin pigmentation | en_US |
dc.subject | Skin Pigmentation | en_US |
dc.subject | solar radiation | en_US |
dc.subject | South and Central America | en_US |
dc.subject | transcription factor EMX2 | en_US |
dc.subject | transcription factor YY1 | en_US |
dc.title | A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia | en_US |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | https://doi.org/10.1038/s41467-018-08147-0 | |
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 |
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