title: Genetic Load of Loss-of-Function Polymorphic Variants in Great Apes.
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.
authors.affiliation: Institut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain.
authors.forename: Guillem
authors.initials: G
authors.lastname: de Valles-Ibáñez
authors.affiliation: Institut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain.
authors.forename: Jessica
authors.initials: J
authors.lastname: Hernandez-Rodriguez
authors.affiliation: Institut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain Present address: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
authors.forename: Javier
authors.initials: J
authors.lastname: Prado-Martinez
authors.affiliation: Institut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain.
authors.forename: Pierre
authors.initials: P
authors.lastname: Luisi
authors.affiliation: Institut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain Centre Nacional d'Análisi Genómica (CNAG), Parc Científic de Barcelona, Barcelona, Catalonia, Spain Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Catalonia, Spain.
authors.forename: Tomàs
authors.initials: T
authors.lastname: Marquès-Bonet
authors.affiliation: Servei de Genòmica, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain ferran.casals@upf.edu.
authors.forename: Ferran
authors.initials: F
authors.lastname: Casals
mesh_terms: D000818:Animals; D019143:Evolution, Molecular; D040741:Genetic Load; D014644:Genetic Variation / Q000235:genetics*; D015894:Genome, Human; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012641:Selection, Genetic / Q000235:genetics*
keywords: Great apes diversity; comparative genomics; genetic load; loss of function