Abstract
Single nucleotide polymorphisms (SNPs) that lead to non-synonymous changes in proteins may have functional effects and be subject to selection. Hence they are of particular interest in the study of genetic diseases. We have genotyped approximately 28,000 such SNPs in three ethnic populations (the HapMap plates) and ten primate species and analyzed these data for evidence of selection. We find SNPs predicted by PolyPhen to be damaging, have lower allele frequencies, and are particularly likely to be population-specific. We have also grouped SNPs by molecular function or biological process of the associated genes and find evidence that selection may be acting in concert on classes of genes.
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Acknowledgment
We thank S. Sunyaev and I. Adzhubey for providing the PolyPhen predictions for nsSNPs.
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James Ireland and Victoria E.H. Carlton contributed equally
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Ireland, J., Carlton, V.E., Falkowski, M. et al. Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups. Hum Genet 119, 75–83 (2006). https://doi.org/10.1007/s00439-005-0105-x
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DOI: https://doi.org/10.1007/s00439-005-0105-x