Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations

Human Molecular Genetics

Volumn 11, Issue 23, 2002, Pages 2961-2967

  Oishi, Kimihiko ^a   Hofmann, Susanna ^a   Diaz, George A ^a   Brown, Tartania ^a   Manwani, Deepa ^a   Ng, Lily ^a   Young, Randy ^b   Vlassara, Helen ^a   Ioannou, Yiannis A ^a   Forrest, Douglas ^a   Gelb, Bruce D ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b LABORATORY CORPORATION OF AMERICA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GUANINE; MYH PROTEIN; ONCOPROTEIN; TYROSINE; UNCLASSIFIED DRUG;

ADENOMATOUS POLYP; ADULT; AGED; ALLELE; ARTICLE; BACTERIAL GENE; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; COLON ADENOMA; COLON POLYPOSIS; COLORECTAL CARCINOMA; DISEASE ASSOCIATION; EXCISION REPAIR; FUNGAL GENE; GENE MUTATION; GENE SEQUENCE; GERM LINE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INHERITANCE; MISSENSE MUTATION; PREDICTION; PRIORITY JOURNAL; RECTUM ADENOMA; SIBLING; SOMATIC MUTATION; UNITED KINGDOM;

ADENOMA; ALLELES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CODON; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; DNA, NEOPLASM; EXONS; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; N-GLYCOSYL HYDROLASES; NEOPLASMS, MULTIPLE PRIMARY; PHENOTYPE; POLYMERASE CHAIN REACTION;

BACTERIA (MICROORGANISMS);

EID: 0036848267     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Kinzler, K.W. and Vogelstein, B. (1996) Lessons from hereditary colorectal cancer. Cell, 87, 159-170.
2. Fearnhead, N.S., Britton, M.P. and Bodmer, W.F. (2001) The ABC of APC. Hum. Mol. Genet., 10, 721-733.
3. Peltomaki, P. (2001) Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum. Mol. Genet., 10, 735-740.
4. Lindahl, T. (1993) Instability and decay of the primary structure of DNA. Nature, 362, 709-715.
5. Ames, B.N. and Gold, L.S. (1991) Endogenous mutagens and the causes of aging and cancer. Mutat. Res., 250, 3-16.
6. Shibutani, S., Takeshita, M. and Grollman, A.P (1991) Insertion of specific bases during DNA synthesis past the oxidation-damaged base 8-oxodG. Nature, 349, 431-434.
7. Nghiem, Y., Cabrera, M., Cupples, C.G. and Miller, J.H. (1988) The MutY gene: A mutator locus in Eschericia coli that generates G:C to T:A transversions. Proc. Natl Acad. Sci. USA, 85, 2709-2713.
8. Michaels, M.L. and Miller, J.H. (1992) The GO system protects organisms from the mutagenic effect of the spontaneous lesion 8-hydroxyguanine (7,8-dihydro-8-oxoguanine). J. Bacteriol., 174, 6321-6325.
9. Moriya, M. and Grollman, A.P. (1993) Mutations in the MutY gene of Escherichia coli enhance the frequency of targeted G:C to T:A transversions induced by a single 9-oxoguanine residue in single-stranded DNA. Mol. Gen. Genet., 239, 72-76.
10. Thomas, D., Scot, A.D., Barbey, R., Padula, M. and Boiteux, S. (1997) Inactivation of OGG1 increases the incidence of G:C to T:A transversions in Saccharomyces cerevisiae: Evidence for endogenous oxidative damage to DNA in eukaryotic cells. Mol. Gen. Genet., 254, 171-178.
11. Roldan-Arjona, T., Wei, Y.F., Carter, K.C., Klungland, A., Anselmino, C., Wang, R.P., Augustus, M. and Lindahl, T. (1997) Molecular cloning and functional expression of a human cDNA encoding the antimutator enzyme 8-hydroxyguanine-DNA glycosylase. Proc. Natl Acad. Sci. USA, 94, 8016-8020.
12. Slupska, M.M., Baikalov, C., Luther, W.M., Chiang, J-H., Wei, Y-F. and Miller, J.H. (1996) Cloning and sequencing a human homolog (hMYH) of the Escherichia coli MutY gene whose function is required for the repair of oxidative DNA damage. J. Bacteriol., 178, 3885-3892.
13. Sakumi, K., Furuichi, M., Tsuzuki, T., Kakuma, T., Kawabata, S., Maki, H. and Sekiguchi, M. (1993) Cloning and expression of cDNA for a human enzyme that hydrolyzes 8-oxo-dGTP a mutagenic substrate for DNA-synthesis. J. Biol. Chem., 268, 23524-23530.
14. Parker, A., Gu, Y., Mahoney, W, Lee, S-H., Singh, K.K., Lu, A-L. (2001) Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long-patch DNA base excision repair. J. Biol. Chem., 276, 5547-5555.
15. Boldogh, I, Milligan, D., Soog Lee, M., Bassett, H., Lloyd, R.S. and McCullough, A.K. (2001) hMYH cell cycle-dependent expression, subcellular localization and association with replication foci: evidence suggesting replication-coupled repair of adenine: 8-oxoguanine mispairs. Nucleic Acids Res., 29, 2802-2809.
16. Al-Tassan, N., Chmiel, N.H., Maynard, J., Fleming, N., Livingston, A.L., Williams, G.T, Hodges, A.K., Davies, D.R., David, S.S., Sampson, J.R. and Cheadle, J.P. (2002) Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat. Genet., 30, 227-232.
17. Miyoshi, Y., Nagase, H., Ando, H., Horri, A., Ichii, S., Nakatsuru, S., Aoki, T., Miki, Y., Mori, T. and Nakamura, Y. (1992) Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum. Mol. Genet., 1, 229-233.
18. Tsuzuki, T., Egashira, A., Igarashi, H., Iwakuma, T., Nakatsuru, Y., Tominaga, Y., Kawate, H., Nakao, K., Nakamura, K., Ide, F. et al. (2001) Spontaneous tumorigenesis in mice defective in the MTH1 gene encoding 8-oxo-dGTPase. Proc. Natl Acad. Sci. USA, 98, 11456-11461.
19. Klungland, A., Rosewell, I., Hollenbach, S., Larsen, E., Daly, G., Epe, B., Seeberg, E., Lindahl, T., Barnes, D.E. (1999) Accumulation of premutagenic DNA lesions in mice defective in removal of oxidative base damage. Proc. Natl Acad. Sci. USA, 96, 13300-13305.
20. Minowa, O., Arai, T., Hirano, M., Monden, Y., Nakai, S., Fukuda, M., Itoh, M., Takano, H., Hippou, Y., Aburatani, H. et al. (2000) Mmh/Ogg1 gene inactivation results in accumulation of 8-hydroxyguanine in mice. Proc. Natl Acad. Sci. USA, 97, 4156-4161.
21. Antonarakis, S.E. and the Nomenclature Working Group (1998) Recommendations for a nomenclature system for human gene mutations. Hum. Mutat., 11, 1-3.