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• W2462097907 abstract "Abstract Genome-wide analysis has observed an excess of coincident single nucleotide polymorphisms (coSNPs) at human-chimpanzee orthologous positions and suggested that this is due to cryptic variation in the mutation rate. While this phenomenon primarily corresponds with non-coding coSNPs, the situation in coding sequences remains unclear. Here we calculate the observed-to-expected ratio of coSNPs (coSNP O/E ) to estimate the prevalence of human-chimpanzee coSNPs and show that the excess of coSNPs is also present in coding regions. Intriguingly, coSNP O/E is much higher at zero-fold than at nonzero-fold degenerate sites; such a difference is due to an elevation of coSNP O/E at zero-fold degenerate sites, rather than a reduction at nonzero-fold degenerate ones. These trends are independent of chimpanzee subpopulation, population size, or sequencing techniques; and hold in broad generality across primates. We find that this discrepancy cannot fully explained by sequence contexts, shared ancestral polymorphisms, SNP density and recombination rate and that coSNP O/E in coding sequences is significantly influenced by purifying selection. We also show that selection and mutation rate affect coSNP O/E independently and coSNPs tend to be less damaging and more correlated with human diseases than non-coSNPs. These suggest that coSNPs may represent a “signature” during primate protein evolution." @default.
• W2462097907 created "2016-07-22" @default.
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• W2462097907 date "2016-06-03" @default.
• W2462097907 modified "2023-09-27" @default.
• W2462097907 title "Purifying selection shapes the coincident SNP distribution of primate coding sequences" @default.
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• W2462097907 doi "https://doi.org/10.1038/srep27272" @default.
• W2462097907 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4891680" @default.
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• W2462097907 hasPublicationYear "2016" @default.
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