Detection of mutations in the DNA polymerase δ gene of human sporadic colorectal cancers and colon cancer cell lines

International Journal of Cancer

Volumn 80, Issue 6, 1999, Pages 919-929

  Flohr, Thomas ^a   Dai, Jia Chun ^a   Büttner, Jens ^a   Popanda, Odilia ^a   Hagmüller, Egbert ^b   Thielmann, Heinz Walter ^a  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b Surgical Department Kreiskrankenhaus am Plattenwald   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA DIRECTED DNA POLYMERASE DELTA;

ARTICLE; CANCER CELL CULTURE; CLINICAL ARTICLE; COLON CARCINOGENESIS; COLON CARCINOMA; COLORECTAL CARCINOMA; DELETION MUTANT; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUTATION RATE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA ANALYSIS; SEQUENCE ANALYSIS; SILENT GENE; STRUCTURE ACTIVITY RELATION; TUMOR SUPPRESSOR GENE;

EID: 0033559182     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0215(19990315)80:6<919::AID-IJC19>3.0.CO;2-U     Document Type: Article

References (30)

1. BEARD, W.A., OSHEROFF, W.P., PRASAD, R., SAWAYA, M.R., JAJU, M., WOOD, T.G., KRAUT, J., KUNKEL, T.A. and WILSON, S.H., Enzyme-DNA interactions required for efficient nucleotide incorporation and discrimination in human DNA polymerase β. J. biol. Chem., 271, 12141-12144 (1996).
2. BÉROUD, C. and SOUSSI, T., APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res., 24, 121-124 (1996).
3. BHATTACHARYYA, N. and BANERJEE, S., A variant of DNA polymerase β acts as a dominant negative mutant. Proc. nat. Acad. Sci. (Wash.), 94, 10324-10329 (1997).
4. BHATTACHARYYA, N.P., SKANDALIS, A., GANESH, A., GRODEN, J. and MEUTH, M., Mutator phenotypes in human colorectal carcinoma cell lines. Proc. nat. Acad. Sci. (Wash.), 91, 6319-6323 (1994).
5. CHANG, L.-S., ZHAO, L., ZHU, L., CHEN, M.-L. and LEE, M.Y.W.T., Structure of the gene for the catalytic subunit of human DNA polymerase δ (POLD1). Genomics, 28, 411-419 (1995).
6. CHIRGWIN, J.M., PRZYBYLA, A.E., MACDONALD, R.J. and RUTTER, W.J., Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry, 18, 5294-5299 (1979).
7. CHUNG, D.W., ZHANG, J., TAN, C.-K., DAVIE, E.W., SO, A.G. and DOWNEY, K.M., Primary structure of the catalytic subunit of human DNA polymerase δ and chromosomal location of the gene. Proc. nat. Acad. Sci. (Wash.), 88, 11197-11201 (1991).
8. DA COSTA, L.T., LIU, B., EL-DEIRY, W.S., HAMILTON, S.R., KINZLER, K.W., VOGELSTEIN, B., MARKOWITZ, S., WILLSON, J.K.V., DE LA CHAPELLE, A., DOWNEY, K.M. and SO, A.G., Polymerase δ variants in RER colorectal tumours. Nature (Genet.), 9, 10-11 (1995).
9. DOBASHI, Y., SHUIN, T., TSURUGA, H., UEMURA, H., TORIGOE, S. and KUBOTA, Y., DNA polymerase β gene mutation in human prostate cancer. Cancer Res., 54, 2827-2829 (1994).
10. FOX, G., POPANDA, O. and THIELMANN, H.W., Evidence for reduced copying fidelity of DNA polymerases α, δ, and ∈ from Novikoff hepatoma cells. J. Cancer Res. clin. Oncol., 123, 659-668 (1997).
11. GLAAB, W.E. and TINDALL, K.R., Mutation rate at the hprt locus in human cancer cell lines with specific mismatch repair-gene defects. Carcinogenesis, 18, 1-8 (1997).
12. HINDGES, R. and HÜBSCHER, U., DNA polymerase δ, an essential enzyme for DNA transactions. Biol. Chem., 378, 345-362 (1997).
13. KOZAK, M., An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs, Nucleic Acids Res., 15, 8125-8148 (1987).
14. LEACH, F.S. and 34 OTHERS, Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell, 75, 1215-1225 (1993).
15. LOEB, L.A., Cancer cells exhibit a mutator phenotype. Adv. Cancer Res., 72, 25-56 (1998).
16. LOEB, L.A., Mutator phenotype may be required for multistage carcinogenesis. Cancer Res., 51, 3075-3079 (1991).
17. MATSUZAKI, J., DOBASHI, Y., MIYAMOTO, H., IKEDA, I., FUJINAMI, K., SHUIN, T. and KUBOTA, Y., DNA polymerase β gene mutations in human bladder cancer. Mol. Carcinogenesis, 15, 38-43 (1996).
18. NAKAMURA, Y., The adenomatous polyposis coli gene and human cancers. Cancer Res. clin. Oncol., 121, 529-534 (1995).
19. NOWELL, P.C., Mechanisms of tumor progression. Cancer Res., 46, 2203-2207, (1986).
20. PAPADOPOULOS, N., NICOLAIDES, N.C., LIU, B., PARSONS, R., LENGAUER, C., PALOMBO, F., D'ARRIGO, A., MARKOWITZ, S., WILLSON, J.K.V., KINZLER, K.W., JIRICNY, J. and VOGELSTEIN, B., Mutations of GTBP in genetically unstable cells. Science, 268, 1915-1917 (1995).
21. POPANDA, O., FOX, G. and THIELMANN, H.W., DNA polymerases α, β, and ∈ of Novikoff hepatoma cells differ from those of normal rat liver in physicochemical and catalytic properties. J. mol. Med., 73, 259-268 (1995).
22. POWELL, S.M., ZILZ, N., BEAZER-BARCLAY, Y., BRYAN, T.M., HAMILTON, S.R., THIBODEAU, S.N., VOGELSTEIN, B. and KINZLER, K.W., APC mutations occur early during colorectal tumorigenesis. Nature (Lond.), 359, 235-237 (1992).
23. SHEFFIELD, V.C., BECK, J.S., KWITEK, A.E., SANDSTROM, D.W. and STONE, E.M., The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics, 16, 325-332 (1993).
24. SIMON, M., GIOT, L. and FAYE, G., The 3′ to 5′ exonuclease activity located in the DNA polymerase δ subunit of Saccharomyces cerevisiae is required for accurate replication. EMBO J., 10, 2165-2170 (1991).
25. UMAR, A., KOI, M., RISINGER, J.I., GLAAB, W.E., TINDALL, K.R., KOLODNER, R.D., BOLAND, C.R., BARRETT, J.C., and KUNKEL, T.A., Correction of hypermutability, N-methyl-N′-nitro-N-nitrosoguanidine resistance, and defective DNA mismatch repair by introducing chromosome 2 into human tumor cells with mutations in MSH2 and MSH6. Cancer Res., 57, 3949-3955 (1997).
26. VOGELSTEIN, B., FEARON, E.R., HAMILTON, S.R., KERN, S.E., PREISINGER, A.C., LEPPERT, M., NAKAMURA, Y., WHITE, R., SMITS, A.M.M., and BOS, J.L., Genetic alterations during colorectal-tumor development. New Engl. J. Med., 319, 525-532 (1988).
27. WANG, L., PATEL, U., GHOSH, L. and BANERJEE, S., DNA polymerase β mutations in human colorectal cancer. Cancer Res., 52, 4824-4827 (1992).
28. WANG, T.S.-F., Cellular DNA polymerases. In: M.L. De Pamphilis (ed.), DNA replication in eukaryotic cells, pp. 461-493, Cold Spring Harbor Laboratory Press, Cold Spring Harbor (1996).
29. YANG, C.-L., CHANG, L.-S., ZHANG, P., HAO, H., ZHU, L., TOOMEY, N.L. and LEE, M.Y.W.T., Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase δ. Nucleic Acids Res., 20, 735-745 (1992).
30. ZHANG, J., CHUNG, D.W., TAN, C.-K., DOWNEY, K.M., DAVIE, E.W. and SO, A.G., Primary structure of the catalytic subunit of calf thymus DNA polymerase δ: sequence similarities with other DNA polymerases. Biochemistry, 30, 11742-11750 (1991).