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Purging of highly deleterious mutations through severe bottlenecks in Alpine ibex.

Abstract：

:Human activity has caused dramatic population declines in many wild species. The resulting bottlenecks have a profound impact on the genetic makeup of a species with unknown consequences for health. A key genetic factor for species survival is the evolution of deleterious mutation load, but how bottleneck strength and mutation load interact lacks empirical evidence. We analyze 60 complete genomes of six ibex species and the domestic goat. We show that historic bottlenecks rather than the current conservation status predict levels of genome-wide variation. By analyzing the exceptionally well-characterized population bottlenecks of the once nearly extinct Alpine ibex, we find genomic evidence of concurrent purging of highly deleterious mutations but accumulation of mildly deleterious mutations. This suggests that recolonization bottlenecks induced both relaxed selection and purging, thus reshaping the landscape of deleterious mutation load. Our findings highlight that even populations of ~1000 individuals can accumulate mildly deleterious mutations. Conservation efforts should focus on preventing population declines below such levels to ensure long-term survival of species.

journal_name

Nat Commun

journal_title

Nature communications

authors

Grossen C,Guillaume F,Keller LF,Croll D

doi

10.1038/s41467-020-14803-1

subject

Has Abstract

pub_date

2020-02-21 00:00:00

pages

1001

issue

1

issn

2041-1723

pii

10.1038/s41467-020-14803-1

journal_volume

11

pub_type

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