Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation.

Genome-wide scans for positive selection in humans provide a promising approach to establish links between genetic variants and adaptive phenotypes. From this approach, lists of hundreds of candidate genomic regions for positive selection have been assembled. These candidate regions are expected to...

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Autores principales:	Jarosław Bryk, Emilie Hardouin, Irina Pugach, David Hughes, Rainer Strotmann, Mark Stoneking, Sean Myles
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2008
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/b73b97f3bf4141c58bbe4b2d63ae4cc4
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spelling	oai:doaj.org-article:b73b97f3bf4141c58bbe4b2d63ae4cc42021-11-25T06:12:24ZPositive selection in East Asians for an EDAR allele that enhances NF-kappaB activation.1932-620310.1371/journal.pone.0002209https://doaj.org/article/b73b97f3bf4141c58bbe4b2d63ae4cc42008-05-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18493316/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Genome-wide scans for positive selection in humans provide a promising approach to establish links between genetic variants and adaptive phenotypes. From this approach, lists of hundreds of candidate genomic regions for positive selection have been assembled. These candidate regions are expected to contain variants that contribute to adaptive phenotypes, but few of these regions have been associated with phenotypic effects. Here we present evidence that a derived nonsynonymous substitution (370A) in EDAR, a gene involved in ectodermal development, was driven to high frequency in East Asia by positive selection prior to 10,000 years ago. With an in vitro transfection assay, we demonstrate that 370A enhances NF-kappaB activity. Our results suggest that 370A is a positively selected functional genetic variant that underlies an adaptive human phenotype.Jarosław BrykEmilie HardouinIrina PugachDavid HughesRainer StrotmannMark StonekingSean MylesPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 3, Iss 5, p e2209 (2008)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Jarosław Bryk Emilie Hardouin Irina Pugach David Hughes Rainer Strotmann Mark Stoneking Sean Myles Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation.
description	Genome-wide scans for positive selection in humans provide a promising approach to establish links between genetic variants and adaptive phenotypes. From this approach, lists of hundreds of candidate genomic regions for positive selection have been assembled. These candidate regions are expected to contain variants that contribute to adaptive phenotypes, but few of these regions have been associated with phenotypic effects. Here we present evidence that a derived nonsynonymous substitution (370A) in EDAR, a gene involved in ectodermal development, was driven to high frequency in East Asia by positive selection prior to 10,000 years ago. With an in vitro transfection assay, we demonstrate that 370A enhances NF-kappaB activity. Our results suggest that 370A is a positively selected functional genetic variant that underlies an adaptive human phenotype.
format	article
author	Jarosław Bryk Emilie Hardouin Irina Pugach David Hughes Rainer Strotmann Mark Stoneking Sean Myles
author_facet	Jarosław Bryk Emilie Hardouin Irina Pugach David Hughes Rainer Strotmann Mark Stoneking Sean Myles
author_sort	Jarosław Bryk
title	Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation.
title_short	Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation.
title_full	Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation.
title_fullStr	Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation.
title_full_unstemmed	Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation.
title_sort	positive selection in east asians for an edar allele that enhances nf-kappab activation.
publisher	Public Library of Science (PLoS)
publishDate	2008
url	https://doaj.org/article/b73b97f3bf4141c58bbe4b2d63ae4cc4
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Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation.

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