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- Title
Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups.
- Authors
Ireland, James; Carlton, Victoria E. H.; Falkowski, Matthew; Moorhead, Martin; Tran, Karen; Useche, Francisco; Hardenbol, Paul; Erbilgin, Ayca; Fitzgerald, Ron; Willis, Thomas D.; Faham, Malek
- 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.
- Subjects
GENETIC polymorphisms; GENETIC disorders; FAMILIAL diseases; DISEASES; ETHNIC groups; GENETICS
- Publication
Human Genetics, 2006, Vol 119, Issue 1/2, p75
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s00439-005-0105-x