Extreme population differentiation in a Human Zinc Transporter Explained by Positive Selection in Sub-Saharan African Populations

Extreme population differentiation in a Human Zinc Transporter Explained by Positive Selection in Sub-Saharan African Populations

Trabajo presentado en la XIII Jornada de Biologia Evolutiva, celebrada en Barcelona el 2 de julio de 2013.

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Main Authors: Engelken, Johannes, Carnero-Montoro, Elena, Pybus, Marc, Andrews, Glen K., Lalueza-Fox, Carles, Comas, David, Sekler, Israel, Rasilla, Marco de la, Rosas, Antonio, Stoneking, Mark, Valverde, Miguel A., Vicente Pérez, Rubén, Bosch, Elena
Format: comunicación de congreso biblioteca
Language:English
Published: 2013-07
Online Access:http://hdl.handle.net/10261/153757
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spelling dig-ibe-es-10261-1537572022-10-26T07:24:47Z Extreme population differentiation in a Human Zinc Transporter Explained by Positive Selection in Sub-Saharan African Populations Engelken, Johannes Carnero-Montoro, Elena Pybus, Marc Andrews, Glen K. Lalueza-Fox, Carles Comas, David Sekler, Israel Rasilla, Marco de la Rosas, Antonio Stoneking, Mark Valverde, Miguel A. Vicente Pérez, Rubén Bosch, Elena Trabajo presentado en la XIII Jornada de Biologia Evolutiva, celebrada en Barcelona el 2 de julio de 2013. Extreme differences in allele frequency between West Africans and Eurasians are observed for a non-synonymous polymorphism in a human zinc uptake transporter. However, there is no further evidence for a selective sweep around this gene. By interrogating allele frequencies in more than 100 diverse human populations and resequencing Neanderthal DNA, we have confirmed the ancestral state of this locus and found a strong geographical gradient for the derived allele with near fixation in West Africa. In extensive coalescent simulations, we show that the extreme allele frequency differences yet absence of a classical sweep signature can be explained by the effect of a local recombination hotspot, together with strong directional selection favoring this allele in Sub-Saharan Africans. Next, we examined the possible functional effect this substitution. Transient overexpression of the zinc transporter in HeLa cells revealed that the predominantly Sub-Saharan variant displayed significantly reduced surface protein expression, reduced basal levels of intracellular zinc and reduced zinc uptake, when compared with the ancestral variant. We speculate that reduced zinc uptake may act to starve certain pathogens from zinc, and hence may have been advantageous in Sub-Saharan Africa. Moreover, these functional results may indicate the existence of zinc homeostasis differences among modern human populations, which could be relevant for disease risk. No 2017-08-01T11:23:35Z 2017-08-01T11:23:35Z 2013-07 comunicación de congreso http://purl.org/coar/resource_type/c_5794 XIII Jornada de Biologia Evolutiva (2013) http://hdl.handle.net/10261/153757 en Sí none
institution IBE ES
collection DSpace
country España
countrycode ES
component Bibliográfico
access En linea
databasecode dig-ibe-es
tag biblioteca
region Europa del Sur
libraryname Biblioteca del IBE España
language English
description Trabajo presentado en la XIII Jornada de Biologia Evolutiva, celebrada en Barcelona el 2 de julio de 2013.
format comunicación de congreso
author Engelken, Johannes
Carnero-Montoro, Elena
Pybus, Marc
Andrews, Glen K.
Lalueza-Fox, Carles
Comas, David
Sekler, Israel
Rasilla, Marco de la
Rosas, Antonio
Stoneking, Mark
Valverde, Miguel A.
Vicente Pérez, Rubén
Bosch, Elena
spellingShingle Engelken, Johannes
Carnero-Montoro, Elena
Pybus, Marc
Andrews, Glen K.
Lalueza-Fox, Carles
Comas, David
Sekler, Israel
Rasilla, Marco de la
Rosas, Antonio
Stoneking, Mark
Valverde, Miguel A.
Vicente Pérez, Rubén
Bosch, Elena
Extreme population differentiation in a Human Zinc Transporter Explained by Positive Selection in Sub-Saharan African Populations
author_facet Engelken, Johannes
Carnero-Montoro, Elena
Pybus, Marc
Andrews, Glen K.
Lalueza-Fox, Carles
Comas, David
Sekler, Israel
Rasilla, Marco de la
Rosas, Antonio
Stoneking, Mark
Valverde, Miguel A.
Vicente Pérez, Rubén
Bosch, Elena
author_sort Engelken, Johannes
title Extreme population differentiation in a Human Zinc Transporter Explained by Positive Selection in Sub-Saharan African Populations
title_short Extreme population differentiation in a Human Zinc Transporter Explained by Positive Selection in Sub-Saharan African Populations
title_full Extreme population differentiation in a Human Zinc Transporter Explained by Positive Selection in Sub-Saharan African Populations
title_fullStr Extreme population differentiation in a Human Zinc Transporter Explained by Positive Selection in Sub-Saharan African Populations
title_full_unstemmed Extreme population differentiation in a Human Zinc Transporter Explained by Positive Selection in Sub-Saharan African Populations
title_sort extreme population differentiation in a human zinc transporter explained by positive selection in sub-saharan african populations
publishDate 2013-07
url http://hdl.handle.net/10261/153757
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