Adaptive evolution of loci covarying with the human African Pygmy phenotype

Adaptive evolution of loci covarying with the human African Pygmy phenotype

This article is published with open access at Springerlink.com.-- This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.

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Main Authors: Mendizabal, Isabel, Marigorta, Urko M., Lao, Oscar, Comas, David
Other Authors: Eusko Jaurlaritza
Format: artículo biblioteca
Published: Springer 2012-08
Online Access:http://hdl.handle.net/10261/111327
http://dx.doi.org/10.13039/501100004837
http://dx.doi.org/10.13039/501100002809
http://dx.doi.org/10.13039/501100001828
http://dx.doi.org/10.13039/501100003086
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spelling dig-ibe-es-10261-1113272021-12-28T16:09:47Z Adaptive evolution of loci covarying with the human African Pygmy phenotype Mendizabal, Isabel Marigorta, Urko M. Lao, Oscar Comas, David Eusko Jaurlaritza Universidad Pompeu Fabra Ministerio de Ciencia e Innovación (España) Generalitat de Catalunya Netherlands Forensic Institute Erasmus University Rotterdam Netherlands Organization for Scientific Research Netherlands Genomics Initiative Forensic Genomics Consortium Netherlands This article is published with open access at Springerlink.com.-- This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited. African Pygmies are hunter-gatherer populations from the equatorial rainforest that present the lowest height averages among humans. The biological basis and the putative adaptive role of the short stature of Pygmy populations has been one of the most intriguing topics for human biologists in the last century, which still remains elusive. Worldwide convergent evolution of the Pygmy size suggests the presence of strong selective pressures on the phenotype. We developed a novel approach to survey the genetic architecture of phenotypes and applied it to study the genomic covariation between allele frequencies and height measurements among Pygmy and non-Pygmy populations. Among the regions that were most associated with the phenotype, we identified a significant excess of genes with pivotal roles in bone homeostasis, such as PPPT3B and the height associated SUPT3H-RUNX2. We hypothesize that skeletal remodeling could be a key biological process underlying the Pygmy phenotype. In addition, we showed that these regions have most likely evolved under positive selection. These results constitute the first genetic hint of adaptive evolution in the African Pygmy phenotype, which is consistent with the independent emergence of the Pygmy height in other continents with similar environments. © 2012 Springer-Verlag. IM was supported by a PhD fellowship by the Basque Government (Hezkuntza, Unibertsitate eta Ikerketa Saila, Eusko Jaurlaritza, BFI107.4); UMM was supported by a PhD fellowship from Universitat Pompeu Fabra. This work was partially supported by the Spanish Ministry of Science and Innovation (Grant CGL2010-14944/BOS), Direcció General de Recerca, Generalitat de Catalunya (2009SGR-1101) and by the Netherlands Forensic Institute (NFI), the Erasmus MC University Medical Center Rotterdam, and the Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO) within the framework of the Forensic Genomics Consortium Netherlands (FGCN). Peer Reviewed 2015-02-26T10:09:14Z 2015-02-26T10:09:14Z 2012-08 2015-02-26T10:09:14Z artículo http://purl.org/coar/resource_type/c_6501 doi: 10.1007/s00439-012-1157-3 issn: 0340-6717 e-issn: 1432-1203 Human Genetics 131(8): 1305-1317 (2012) http://hdl.handle.net/10261/111327 10.1007/s00439-012-1157-3 http://dx.doi.org/10.13039/501100004837 http://dx.doi.org/10.13039/501100002809 http://dx.doi.org/10.13039/501100001828 http://dx.doi.org/10.13039/501100003086 22407027 Publisher's version http://dx.doi.org/10.1007/s00439-012-1157-3 Sí open Springer
institution IBE ES
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country España
countrycode ES
component Bibliográfico
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databasecode dig-ibe-es
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libraryname Biblioteca del IBE España
description This article is published with open access at Springerlink.com.-- This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
author2 Eusko Jaurlaritza
author_facet Eusko Jaurlaritza
Mendizabal, Isabel
Marigorta, Urko M.
Lao, Oscar
Comas, David
format artículo
author Mendizabal, Isabel
Marigorta, Urko M.
Lao, Oscar
Comas, David
spellingShingle Mendizabal, Isabel
Marigorta, Urko M.
Lao, Oscar
Comas, David
Adaptive evolution of loci covarying with the human African Pygmy phenotype
author_sort Mendizabal, Isabel
title Adaptive evolution of loci covarying with the human African Pygmy phenotype
title_short Adaptive evolution of loci covarying with the human African Pygmy phenotype
title_full Adaptive evolution of loci covarying with the human African Pygmy phenotype
title_fullStr Adaptive evolution of loci covarying with the human African Pygmy phenotype
title_full_unstemmed Adaptive evolution of loci covarying with the human African Pygmy phenotype
title_sort adaptive evolution of loci covarying with the human african pygmy phenotype
publisher Springer
publishDate 2012-08
url http://hdl.handle.net/10261/111327
http://dx.doi.org/10.13039/501100004837
http://dx.doi.org/10.13039/501100002809
http://dx.doi.org/10.13039/501100001828
http://dx.doi.org/10.13039/501100003086
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AT marigortaurkom adaptiveevolutionoflocicovaryingwiththehumanafricanpygmyphenotype
AT laooscar adaptiveevolutionoflocicovaryingwiththehumanafricanpygmyphenotype
AT comasdavid adaptiveevolutionoflocicovaryingwiththehumanafricanpygmyphenotype
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