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 effecti

SUBMITTER: de Valles-Ibanez G 

PROVIDER: S-EPMC4824148 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature