A scan for human-specific relaxation of negative selection reveals unexpected polymorphism in proteasome genes.

Abstract:

:Environmental or genomic changes during evolution can relax negative selection pressure on specific loci, permitting high frequency polymorphisms at previously conserved sites. Here, we jointly analyze population genomic and comparative genomic data to search for functional processes showing relaxed negative selection specifically in the human lineage, whereas remaining evolutionarily conserved in other mammals. Consistent with previous studies, we find that olfactory receptor genes display such a signature of relaxation in humans. Intriguingly, proteasome genes also show a prominent signal of human-specific relaxation: multiple proteasome subunits, including four members of the catalytic core particle, contain high frequency nonsynonymous polymorphisms at sites conserved across mammals. Chimpanzee proteasome genes do not display a similar trend. Human proteasome genes also bear no evidence of recent positive or balancing selection. These results suggest human-specific relaxation of negative selection in proteasome subunits; the exact biological causes, however, remain unknown.

journal_name

Mol Biol Evol

authors

Somel M,Wilson Sayres MA,Jordan G,Huerta-Sanchez E,Fumagalli M,Ferrer-Admetlla A,Nielsen R

doi

10.1093/molbev/mst098

subject

Has Abstract

pub_date

2013-08-01 00:00:00

pages

1808-15

issue

8

eissn

0737-4038

issn

1537-1719

pii

mst098

journal_volume

30

pub_type

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