Genetic load of loss-of-function polymorphic variants in great apes
Mostra el registre complet Registre parcial de l'ítem
- dc.contributor.author de Valles-Ibáñez, Guillemca
- dc.contributor.author Hernández Rodríguez, Jéssica, 1983-ca
- dc.contributor.author Prado Martínez, Javier, 1987-ca
- dc.contributor.author Luisi, Pierre, 1985-ca
- dc.contributor.author Marquès i Bonet, Tomàs, 1975-ca
- dc.contributor.author Casals López, Ferranca
- dc.date.accessioned 2016-05-13T17:41:57Z
- dc.date.available 2016-05-13T17:41:57Z
- dc.date.issued 2016
- dc.description.abstract Loss of function (LoF) genetic variants are predicted to disrupt gene function, and are therefore expected to substantially reduce individual's viability. Knowing the genetic burden of LoF variants in endangered species is of interest for a better understanding of the effects of declining population sizes on species viability. In this study, we have estimated the number of LoF polymorphic variants in six great ape populations, based on whole-genome sequencing data in 79 individuals. Our results show that although the number of functional variants per individual is conditioned by the effective population size, the number of variants with a drastic phenotypic effect is very similar across species. We hypothesize that for those variants with high selection coefficients, differences in effective population size are not important enough to affect the efficiency of natural selection to remove them. We also describe that mostly CpG LoF mutations are shared across species, and an accumulation of LoF variants at olfactory receptor genes in agreement with its pseudogenization in humans and other primate species.ca
- dc.description.sponsorship The authors thank funding to F.C. by grant SAF2012-35025 from the Ministerio de Economía y Competitividad (Spain) and FEDER and by Direcció General de Recerca, Generalitat de Catalunya (2014SGR-866). T.M.B. is supported by EMBO YIP 2013, MINECO BFU2011-28549, BFU2014-55090-P (FEDER), BFU2015-7116-ERC and BFU2015-6215-ERC (www.mecd.gob.es), NIH U01 MH106874 grant and Fundació Zoo Barcelona.
- dc.format.mimetype application/pdfca
- dc.identifier.citation de Valles-Ibáñez G, Hernandez-Rodriguez J, Prado-Martinez J, Luisi P, Marquès-Bonet T, Casals F. Genetic load of loss-of-function polymorphic variants in great apes. Genome biology and evolution. 2016; 2(1): 871-8777. DOI 10.1093/gbe/evw040ca
- dc.identifier.doi http://dx.doi.org/10.1093/gbe/evw040
- dc.identifier.issn 1759-6653
- dc.identifier.uri http://hdl.handle.net/10230/26284
- dc.language.iso engca
- dc.publisher Oxford University Pressca
- dc.relation.ispartof Genome biology and evolution. 2016; 2(1): 871-877
- dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2011-28549
- dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/BFU2014-55090-P
- dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/BFU2015-7116-ERC
- dc.rights © The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution./nThis is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited.ca
- dc.rights.accessRights info:eu-repo/semantics/openAccessca
- dc.rights.uri http://creativecommons.org/licenses/by-nc/4.0/ca
- dc.subject.keyword Great apes diversity
- dc.subject.keyword Comparative genomics
- dc.subject.keyword Genetic load
- dc.subject.keyword Loss of function
- dc.subject.other Goril·lesca
- dc.subject.other Genètica animalca
- dc.title Genetic load of loss-of-function polymorphic variants in great apesca
- dc.type info:eu-repo/semantics/articleca
- dc.type.version info:eu-repo/semantics/publishedVersionca