ArticleMolecular biology and evolution2013
A scan for human-specific relaxation of negative selection reveals unexpected polymorphism in proteasome genes.
Article in Molecular biology and evolution, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 27 citations in OpenAlex.
- Convergent reduction of olfactory genes and olfactory bulb size in mammalian species at altitude.Current biology : CB · 2025Article
- Relaxed selection in evolution of genes regulating limb development gives clue to variation in forelimb morphology of cetaceans and other mammals.Proceedings. Biological sciences · 2024Article
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- Contiguously hydrophobic sequences are functionally significant throughout the human exome.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories.Genome biology and evolution · 2020Article
- Evolutionary history and genetic diversity study of heat-shock protein 60 ofJournal of genetics · 2019Article
- The psoriasis-associated deletion of late cornified envelope genes LCE3B and LCE3C has been maintained under balancing selection since Human Denisovan divergence.BMC evolutionary biology · 2016Article
- Atopic Dermatitis Susceptibility Variants in Filaggrin Hitchhike Hornerin Selective Sweep.Genome biology and evolution · 2016Article
- Fifteen years of genomewide scans for selection: trends, lessons and unaddressed genetic sources of complication.Molecular ecology · 2016Review
- A comparison of human and mouse gene co-expression networks reveals conservation and divergence at the tissue, pathway and disease levels.BMC evolutionary biology · 2015Article
- Inferring Selective Constraint from Population Genomic Data Suggests Recent Regulatory Turnover in the Human Brain.Genome biology and evolution · 2015Article
- Inference of Evolutionary Forces Acting on Human Biological Pathways.Genome biology and evolution · 2015Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
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.
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