General sessions (1A-01 - 3E-13)

2005 Genes & Genetic Systems  
Large-scale analysis of human SNPs with possible effects on gene function Using dbSNP and the gene structure of more than 21,000 human genes that were revealed in the annotation project of human fulllength cDNAs (H-Invitational), we examined the possible effects of genetic polymorphisms on gene function. We classified SNPs on human genes according to their effects on ORF, and identified synonymous SNP, nonsynonymous SNP, and nonsense SNPs causing premature termination codons. As a result, we
more » ... ected 25,422 nonsynonymous SNPs and 682 nonsense SNPs. The effects of nonsense SNPs would be serious if there are no other genes that can compensate the gene function. We thus examined the frequency of nonsynonymous SNPs and nonsense SNPs on genes with or without duplicate genes. The numbers of SNPs affecting ORF were about two-fold larger in genes with duplicates compared with those without duplicate genes (singleton genes). This supports the idea that duplicate genes contribute to the genetic robustness against mutations. The effects of ORF change for singleton genes may be more serious, as far as any other gene that can compensate its function does not exist.
doi:10.1266/ggs.80.444 fatcat:yec7vkgtjrbmllw2jgztcp5u2i