Adaptive evolution of loci covarying with the human African Pygmy phenotype

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• dc.contributor.author Mendizábal Eceizabarrena, Isabel, 1981-ca
• dc.contributor.author Marigorta, Urko M.ca
• dc.contributor.author Lao Grueso, Oscar, 1976-ca
• dc.contributor.author Comas, David, 1969-ca
• dc.date.accessioned 2015-12-09T17:02:48Z
• dc.date.available 2015-12-09T17:02:48Z
• dc.date.issued 2012
• dc.description.abstract 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.ca
• dc.format.mimetype application/pdfca
• dc.identifier.citation Mendizabal I, Marigorta UM, Lao O, Comas D. Adaptive evolution of loci covarying with the human African Pygmy phenotype. Human genetics. 2012;131(8):1305-17. DOI: 10.1007/s00439-012-1157-3ca
• dc.identifier.doi http://dx.doi.org/10.1007/s00439-012-1157-3
• dc.identifier.issn 0340-6717
• dc.identifier.uri http://hdl.handle.net/10230/25361
• dc.language.iso engca
• dc.publisher Springerca
• dc.relation.ispartof Human genetics. 2012;131(8):1305-17
• dc.rights © 2013 Mendizabal et al.; licensee Springer. 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.ca
• dc.rights.accessRights info:eu-repo/semantics/openAccessca
• dc.rights.uri https://creativecommons.org/licenses/by-nc/4.0/
• dc.subject.other Evolució molecularca
• dc.subject.other Adaptació (Fisiologia)ca
• dc.title Adaptive evolution of loci covarying with the human African Pygmy phenotypeca
• dc.type info:eu-repo/semantics/articleca
• dc.type.version info:eu-repo/semantics/publishedVersionca