de Valles-Ibáñez Guillem, Hernandez-Rodriguez Jessica, Prado-Martinez Javier, Luisi Pierre, Marquès-Bonet Tomàs, Casals Ferran
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.
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.
Genome Biol Evol. 2016 Mar 26;8(3):871-7. doi: 10.1093/gbe/evw040.
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.
功能丧失（LoF）基因变异预计会破坏基因功能，因此预计会大幅降低个体的生存能力。了解濒危物种中LoF变异的遗传负担，对于更好地理解种群数量下降对物种生存能力的影响具有重要意义。在本研究中，我们基于79个个体的全基因组测序数据，估计了六个大猩猩种群中LoF多态性变异的数量。我们的结果表明，尽管每个个体的功能变异数量受有效种群大小的影响，但具有剧烈表型效应的变异数量在不同物种间非常相似。我们推测，对于那些具有高选择系数的变异，有效种群大小的差异不足以影响自然选择去除它们的效率。我们还描述了大多数CpG LoF突变在物种间是共享的，并且嗅觉受体基因处LoF变异的积累与人类和其他灵长类物种中该基因的假基因化一致。
