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dc.contributor.authorValles-Ibáñez, Guillem dees_ES
dc.contributor.authorHernández-Rodríguez, Jessicaes_ES
dc.contributor.authorPrado-Martinez, Javieres_ES
dc.contributor.authorLuisi, Pierrees_ES
dc.contributor.authorMarqués-Bonet, Tomàses_ES
dc.contributor.authorCasals, Ferranes_ES
dc.date.accessioned2017-06-19T11:55:58Z-
dc.date.available2017-06-19T11:55:58Z-
dc.date.issued2016-03-
dc.identifier.citationGenome Biology and Evolution 8(3): 871-877 (2016)es_ES
dc.identifier.issn1759-6653-
dc.identifier.urihttp://hdl.handle.net/10261/151655-
dc.description.abstractLoss 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.es_ES
dc.description.sponsorshipThe 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 Fundacio Zoo Barcelona.es_ES
dc.language.isoenges_ES
dc.publisherOxford University Presses_ES
dc.relationMINECO/ICTI2013-2016/BFU2014-55090-Pes_ES
dc.relationMINECO/ICTI2013-2016/BFU2015-7116-ERCes_ES
dc.relationMINECO/ICTI2013-2016/BFU2015-6215-ERCes_ES
dc.relation.isversionofPublisher's versiones_ES
dc.rightsopenAccesses_ES
dc.subjectLoss of functiones_ES
dc.subjectGreat apes diversityes_ES
dc.subjectGenetic loades_ES
dc.subjectComparative genomicses_ES
dc.titleGenetic Load of Loss-of-Function Polymorphic Variants in Great Apeses_ES
dc.typeartículoes_ES
dc.identifier.doi10.1093/gbe/evw040-
dc.description.peerreviewedPeer reviewedes_ES
dc.relation.publisherversionhttps://doi.org/10.1093/gbe/evw040es_ES
dc.rights.licensehttp://creativecommons.org/licenses/by-nc/4.0/es_ES
dc.contributor.funderMinisterio de Economía y Competitividad (España)es_ES
dc.contributor.funderEuropean Commissiones_ES
dc.contributor.funderGeneralitat de Catalunyaes_ES
dc.contributor.funderEMBOes_ES
dc.contributor.funderNational Institutes of Health (US)es_ES
dc.contributor.funderZoo de Barcelonaes_ES
dc.contributor.funderEuropean Research Counciles_ES
dc.relation.csices_ES
oprm.item.hasRevisionno ko 0 false*
dc.identifier.funderhttp://dx.doi.org/10.13039/501100003329es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100000780es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100002809es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100003043es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/100000002es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100000781es_ES
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