OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans

Contemporary variation in skin pigmentation is the result of hundreds of thousands years of human evolution in new and changing environments. Previous studies have identified several genes involved in skin pigmentation differences among African, Asian, and European populations. However, none have ex...

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Autores principales: Quillen, Ellen E., Bauchet, Marc, Bigham, Abigail W., Delgado Burbano, Miguel Eduardo, Faust, Franz X., Klimentidis, Yann C., Mao, Xianyun, Stoneking, Mark, Shriver, Mark D.
Formato: Articulo
Lenguaje:Inglés
Publicado: 2011
Materias:
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/145296
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id I19-R120-10915-145296
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Biología
Antropología
Skin pigmentation
Single Nucleotide polymorphism array
Pigmentation gene
Extended haplotype homozygosity
Core haplotype
spellingShingle Biología
Antropología
Skin pigmentation
Single Nucleotide polymorphism array
Pigmentation gene
Extended haplotype homozygosity
Core haplotype
Quillen, Ellen E.
Bauchet, Marc
Bigham, Abigail W.
Delgado Burbano, Miguel Eduardo
Faust, Franz X.
Klimentidis, Yann C.
Mao, Xianyun
Stoneking, Mark
Shriver, Mark D.
OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
topic_facet Biología
Antropología
Skin pigmentation
Single Nucleotide polymorphism array
Pigmentation gene
Extended haplotype homozygosity
Core haplotype
description Contemporary variation in skin pigmentation is the result of hundreds of thousands years of human evolution in new and changing environments. Previous studies have identified several genes involved in skin pigmentation differences among African, Asian, and European populations. However, none have examined skin pigmentation variation among Indigenous American populations, creating a critical gap in our understanding of skin pigmentation variation. This study investigates signatures of selection at 76 pigmentation candidate genes that may contribute to skin pigmentation differences between Indigenous Americans and Europeans. Analysis was performed on two samples of Indigenous Americans genotyped on genome-wide SNP arrays. Using four tests for natural selection—locus-specific branch length (LSBL), ratio of heterozygosities (lnRH), Tajima’s D difference, and extended haplotype homozygosity (EHH)—we identified 14 selection-nominated candidate genes (SNCGs). SNPs in each of the SNCGs were tested for association with skin pigmentation in 515 admixed Indigenous American and European individuals from regions of the Americas with high ground-level ultraviolet radiation. In addition to SLC24A5 and SLC45A2, genes previously associated with European/non-European differences in skin pigmentation, OPRM1 and EGFR were associated with variation in skin pigmentation in New World populations for the first time.
format Articulo
Articulo
author Quillen, Ellen E.
Bauchet, Marc
Bigham, Abigail W.
Delgado Burbano, Miguel Eduardo
Faust, Franz X.
Klimentidis, Yann C.
Mao, Xianyun
Stoneking, Mark
Shriver, Mark D.
author_facet Quillen, Ellen E.
Bauchet, Marc
Bigham, Abigail W.
Delgado Burbano, Miguel Eduardo
Faust, Franz X.
Klimentidis, Yann C.
Mao, Xianyun
Stoneking, Mark
Shriver, Mark D.
author_sort Quillen, Ellen E.
title OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
title_short OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
title_full OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
title_fullStr OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
title_full_unstemmed OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
title_sort oprm1 and egfr contribute to skin pigmentation differences between indigenous americans and europeans
publishDate 2011
url http://sedici.unlp.edu.ar/handle/10915/145296
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