Somatic mutations and single nucleotide polymorphisms of base excision repair genes involved in the repair of 8-hydroxyguanine in damaged DNA.
To elucidate the involvement of 8-hydroxyguanine (oh(8)G) repair genes in human lung carcinogenesis, 47 lung cancer cell lines and 55 primary lung cancers were examined for somatic mutations and genetic polymorphisms in all coding exons of the MYH and APEX genes, and exon 8 of the OGG1 gene by polymerase chain reaction-single strand conformation polymorphism analysis. In the MYH gene, one missense mutation was detected in a cell line, NCI-H157, whereas no mutations were detected in primary cancers. There were no mutations in the APEX and OGG1 genes in the cell lines or primary cancers. Ten single nucleotide polymorphisms (SNPs) were identified, and seven of them were accompanied by amino acid substitutions. Differences in the oh(8)G repair activities of MYH, APEX and OGG1 proteins due to somatic mutations and SNPs can be involved in human carcinogenesis.
Shinmura
K
K
Biology Division, National Cancer Center Research Institute, 1-1, Tsukiji 5-chome, Chuo-ku, 104-0045, Tokyo, Japan.
Yamaguchi
S
S
Saitoh
T
T
Kohno
T
T
Yokota
J
J
D019757:Carbon-Oxygen Lyases / Q000235:genetics*; D004249:DNA Damage; D045647:DNA Glycosylases; D004260:DNA Repair; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase; D043382:DNA-Formamidopyrimidine Glycosylase; D006147:Guanine / Q000031:analogs & derivatives* / Q000378:metabolism*; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D009154:Mutation; D009699:N-Glycosyl Hydrolases / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D014407:Tumor Cells, Cultured
D009687:Nuclear Proteins; C024829:8-hydroxyguanine; D006147:Guanine; D045647:DNA Glycosylases; D009699:N-Glycosyl Hydrolases; C061738:mutY adenine glycosylase; D043382:DNA-Formamidopyrimidine Glycosylase; D019757:Carbon-Oxygen Lyases; C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase