Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups.
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.
Ireland
James
J
Affymetrix, ParAllele BioScience, 7300 Shoreline Blvd, South San Francisco, CA 94080, USA.
Carlton
Victoria E H
VE
Falkowski
Matthew
M
Moorhead
Martin
M
Tran
Karen
K
Useche
Francisco
F
Hardenbol
Paul
P
Erbilgin
Ayca
A
Fitzgerald
Ron
R
Willis
Thomas D
TD
Faham
Malek
M
D000818:Animals; D044466:Asian People / Q000235:genetics*; D044383:Black People / Q000235:genetics*; D030541:Databases, Genetic; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011323:Primates / Q000235:genetics; D012641:Selection, Genetic; D044465:White People / Q000235:genetics*