A scan for human-specific relaxation of negative selection reveals unexpected Polymorphism in Proteasome Genes

Mehmet Somel; Melissa A. Wilson  Sayres; Gregory Jordan; Emilia Huerta-Sanchez; Matteo Fumagalli; Anna Ferrer-Admetlla; Rasmus Nielsen

doi:10.1093/molbev/mst098

A scan for human-specific relaxation of negative selection reveals unexpected Polymorphism in Proteasome Genes

Mehmet Somel, Melissa A. Wilson Sayres, Gregory Jordan, Emilia Huerta-Sanchez, Matteo Fumagalli, Anna Ferrer-Admetlla, Rasmus Nielsen

12 Citations (Scopus)

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.

Original language	English
Journal	Molecular Biology and Evolution
Volume	30
Issue number	8
Pages (from-to)	1808-1815
Number of pages	8
ISSN	0737-4038
DOIs	https://doi.org/10.1093/molbev/mst098
Publication status	Published - 2013
Externally published	Yes

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10.1093/molbev/mst098

http://mbe.oxfordjournals.org/content/30/8/1808.abstract

Cite this

@article{40605327e68e47519448aea2b35160b3,

title = "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.",

author = "Mehmet Somel and Sayres, {Melissa A. Wilson} and Gregory Jordan and Emilia Huerta-Sanchez and Matteo Fumagalli and Anna Ferrer-Admetlla and Rasmus Nielsen",

year = "2013",

doi = "10.1093/molbev/mst098",

language = "English",

volume = "30",

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TY - JOUR

T1 - A scan for human-specific relaxation of negative selection reveals unexpected Polymorphism in Proteasome Genes

AU - Somel, Mehmet

AU - Sayres, Melissa A. Wilson

AU - Jordan, Gregory

AU - Huerta-Sanchez, Emilia

AU - Fumagalli, Matteo

AU - Ferrer-Admetlla, Anna

AU - Nielsen, Rasmus

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

U2 - 10.1093/molbev/mst098

DO - 10.1093/molbev/mst098

M3 - Journal article

C2 - 23699470

SN - 0737-4038

VL - 30

SP - 1808

EP - 1815

JO - Molecular Biology and Evolution

JF - Molecular Biology and Evolution

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