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 Evoljournal_title
Molecular biology and evolutionauthors
Somel M,Wilson Sayres MA,Jordan G,Huerta-Sanchez E,Fumagalli M,Ferrer-Admetlla A,Nielsen Rdoi
10.1093/molbev/mst098subject
Has Abstractpub_date
2013-08-01 00:00:00pages
1808-15issue
8eissn
0737-4038issn
1537-1719pii
mst098journal_volume
30pub_type
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