A scan for human-specific relaxation of negative selection reveals unexpected polymorphism in proteasome genes
作者： Mehmet Somel , Melissa A. Wilson Sayres , Gregory Jordan , Emilia Huerta-Sanchez , Matteo Fumagalli
关键词: Biology 、 Proteasome 、 Human genome 、 Genetics 、 Balancing selection 、 Gene 、 Nonsynonymous substitution 、 Genome 、 Population 、 Negative selection
摘要: 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 and comparative data to search for functional processes showing relaxed specifically in the human lineage, whereas remaining evolutionarily other mammals. Consistent with previous studies, find that olfactory receptor genes display such a signature of relaxation humans. Intriguingly, proteasome also show prominent signal human-specific relaxation: multiple subunits, including four members catalytic core particle, contain nonsynonymous sites across Chimpanzee do not similar trend. Human bear no evidence recent positive balancing selection. These results suggest subunits; exact biological causes, however, remain unknown.
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