Frameshift mismatch recognition by the human MutS α complex

Mutation Research - DNA Repair

Volumn 408, Issue 1, 1998, Pages 55-66

  Macpherson, Peter ^a   Humbert, Odile ^a   Karran, Peter ^a  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

Author keywords

DNA loop; hMutS ; Mismatch binding; Mismatch recognition; Mismatch repair

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ARTICLE; BASE MISPAIRING; COMPLEX FORMATION; DNA FLANKING REGION; DNA REPLICATION; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC PREDISPOSITION; GERM LINE; HUMAN; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; RECOGNITION;

BINDING SITES; DIMERIZATION; DNA; DNA REPAIR; DNA-BINDING PROTEINS; FRAMESHIFT MUTATION; HUMANS; MUTS HOMOLOG 2 PROTEIN; NUCLEIC ACID CONFORMATION; PROTEIN BINDING; PROTO-ONCOGENE PROTEINS; PURINE NUCLEOTIDES; PYRIMIDINE NUCLEOTIDES;

EID: 0032126812     PISSN: 09218777     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0921-8777(98)00017-2     Document Type: Article

References (40)

1. [1] P. Modrich, R. Lahue, Mismatch repair in replication fidelity, genetic recombination and cancer biology, Ann. Rev. Biochem. 65 (1996) 101-133.
2. [2] F.S. Leach, N.C. Nicolaides, N. Papadopoulos, B. Liu, J. Jen, R. Parsons, P. Peltomäki, P. Sistonen, L.A. Aaltonen, M. Nyström-Lahti, X.-Y. Guan, J. Zhang, P.S. Meltzer, J.-W. Yu, F.-T. Kao, D.J. Chen, K.M. Cerosaletti, R.E.K. Fournier, S. Todd, T. Lewis, R.J. Leach, S.L. Naylor, J. Weissenbach, J.-P. Mecklin, H. Järvinen, G.M. Petersen, S.R. Hamilton, J. Green, J. Jass, P. Watson, H.T. Lynch, J.M. Trent, A. de la Chapelle, K.W. Kinzler, B. Vogelstein, Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer, Cell 75 (1993) 1215-1225.
3. [3] C.E. Bronner, S.M. Baker, P.T. Morrison, G. Warren, L.G. Smith, M.K. Lescoe, M. Kane, C. Earabino, J. Lipford, A. Lindblom, P. Tannergård, R.J. Bollag, A.R. Godwin, D.C. Ward, M. Nordenskjøld, R. Fishel, R. Kolodner, R.M. Liskay, Mutation in the DNA mismatch repair gene homolog hMLH1 is associated with hereditary non-polyposis colon cancer, Nature 368 (1994) 258-261.
4. [4] N.C. Nicolaides, N. Papadopoulos, B. Liu, Y.-F. Wei, K.C. Carter, S.M. Ruben, C.A. Rosen, W.A. Haseltine, R.D. Fleischmann, C.M. Fraser, M.D. Adams, J.C. Venter, M.G. Dunlop, S.R. Hamilton, G.M. Petersen, A. de la Chapelle, B. Vogelstein, K.W. Kinzler, Mutations of two PMS homologues in hereditary nonpolyposis colon cancer, Nature 371 (1994) 75-80.
5. [5] M. Miyaki, M. Konishi, K. Tanaka, R. Kikuchi-Yanoshita, M. Muraoka, M. Yasuno, T. Igari, M. Koike, M. Chiba, T. Mori, Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer, Nat. Genet. 17 (1997) 271-272.
6. [6] H.T. Lynch, T.C. Smyrk, P. Watson, S.J. Lanspa, J.F. Lynch, P.M. Lynch, R.J. Cavalieri, C.R. Boland, Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review, Gastroenterology 104 (1993) 1535-1549.
7. [7] R.D. Kolodner, Mismatch repair: mechanisms and relation to cancer susceptibility, TIBS 20 (1995) 397-401.
8. [8] J.T. Drummond, G.-M. Li, M.J. Longley, P. Modrich, Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells, Science 268 (1995) 1909-1912.
9. [9] F. Palombo, I. Iaccarino, E. Nakajima, M. Ikejima, T. Shimada, J. Jiricny, Curr. Biol. 6 (1996) 1181-1184.
10. [10] F. Palombo, P. Gallinari, I. Iaccarino, T. Lettieri, M. Hughes, A. D'Arrigo, O. Truong, J.J. Hsuan, J. Jiricny, hMuts β, a heterodimer of hMSH2 and hMSH3, binds to insertion/deletion loops in DNA, Science 268 (1995) 1912-1914.
11. [11] J.I. Risinger, A. Umar, J. Boyd, A. Berchuck, T.A. Kunkel, J.C. Barrett, Mutation in MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair, Nat. Genet. 14 (1996) 102-105.
12. [12] P. Branch, G. Aquilina, M. Bignami, P. Karran, Defective mismatch binding and a mutator phenotype in cells tolerant to DNA damage, Nature 362 (1993) 652-654.
13. [13] A. Kat, W.G. Thilly, W.H. Fang, M.J. Longley, G.M. Li, P. Modrich, An alkylation-tolerant, mutator human cell line is deficient in strand-specific mismatch repair, Proc. Natl. Acad. Sci. U.S.A. 90 (1993) 6424-6428.
14. [14] G. Aquilina, P. Hess, P. Branch, C. MacGeoch, I. Casciano, P. Karran, M. Bignami, A mismatch recognition defect in colon carcinoma confers DNA microsatellite instability and a mutator phenotype, Proc. Natl. Acad. Sci. U.S.A. 91 (1994) 8905-8909.
15. [15] N.P. Bhattacharyya, A. Skandalis, A. Ganesh, J. Groden, M. Meuth, Mutator phenotypes in human colorectal carcinoma cell lines, Proc. Natl. Acad. Sci. U.S.A. 91 (1994) 6319-6323.
16. [16] J.R. Eshleman, E.Z. Lang, G.K. Bowerfind, R. Parsons, B. Vogelstein, J.K.V. Willson, M.L. Veigl, W.D. Sedwick, S.D. Markowitz, Increased mutation rates at the hprt locus accompanies microsatellite instability in colon cancer, Oncogene 10 (1995) 33-37.
17. [17] W.G. McGregor, V.M. Maher, J.J. McCormick, Kinds and locations of mutations arising spontaneously in the coding region of the HPRT gene of finite-life-span diploid human fibroblasts, Somatic Cell Mol. Genet. 17 (1991) 463-469.
18. [18] L.H. Zhang, H. Vrieling, A.A. van Zeeland, D. Jenssen, Spectrum of spontaneously occurring mutations in the hprt gene of V79 Chinese hamster cells, J. Mol. Biol. 223 (1992) 627-635.
19. [19] E.G.R. Lichtenauer-Kaligis, J.C.P. Thijssen, H. den Dulk, P. van der Putte, M. Giphart-Gassler, J.G. Tasseron-de Jong, Spontaneous mutation spectrum in the hprt gene in human lymphoblastoid TK6 cells, Mutagenesis 10 (1995) 137-143.
20. [20] N.P. Bhattacharyya, A. Ganesh, G. Phear, B. Richards, A. Skandalis, M. Meuth, Molecular analysis of mutations in mutator colorectal carcinoma cell lines, Hum. Mol. Genet. 4 (1995) 2057-2064.
21. [21] S. Malkhosyan, A. McCarty, H. Sawai, M. Perucho, Differences in the spectrum of spontaneous mutations in the hprt gene between tumor cells of the microsatellite mutator phenotype, Mutat. Res. 316 (1996) 249-259.
22. [22] P. Karran, R. Hampson, Genomic instability and tolerance to alkylating agents, Cancer Surv. 28 (1996) 69-85.
23. [23] G. Streisinger, Y. Okada, J. Emrich, J. Newton, A. Tsugita, E. Terzaghi, M. Inouye, Frameshift mutations and the genetic code, Cold Spring Harbor Symp. Quant. Biol. 31 (1966) 77-84.
24. [24] B.O. Parker, M.G. Marinus, Repair of DNA heteroduplexes containing small heterologous sequences in Escherichia coli, Proc. Natl. Acad. Sci. U.S.A. 89 (1992) 1730-1734.
25. [25] C. Stephenson, P. Karran, Selective binding to DNA base pair mismatches by proteins from human cells, J. Biol. Chem. 264 (1989) 21177-21182.
26. 6-methylguanine residues elicit DNA repair synthesis by human cell extracts, J. Biol. Chem. 268 (1993) 15878-15886.
27. 6-methylguanine-DNA methyltransferase expression in acquired resistance to methylating agents in human cells, J. Biol. Chem. 272 (1997) 28596-28606.
28. [28] M. Brimmel, R. Mendiola, J. Mangion, G. Packham, Bax frameshift mutations in cell lines derived from human haematopoietic malignancies are associated with resistance to apoptosis and microsatellite instability, Oncogene (1997) in press.
29. [29] A. Umar, J.C. Boyer, D.C. Thomas, D.G. Nguyen, J.I. Risinger, J. Boyd, Y. Ionov, M. Perucho, T. Kunkel, Defective mismatch repair in extracts of colorectal and endometrial cell lines exhibiting microsatellite instability, J. Biol. Chem. 269 (1994) 14367-14370.
30. [30] N. Papadopoulos, N.C. Nicolaides, B. Liu, R.E. Parsons, F. Palombo, A. D'Arrigo, S. Markowitz, J.K.V. Willson, K.W. Kinzler, J. Jiricny, B. Vogelstein, Mutations of GTBP in genetically unstable cells, Science 268 (1995) 1915-1917.
31. [31] G.-M. Li, P. Modrich, Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs, Proc. Natl. Acad. Sci. U.S.A. 92 (1995) 1950-1954.
32. [32] P. Karran, Appropriate partners make good matches, Science 268 (1995) 1857-1858.
33. [33] T.A. Kunkel, The intricacies of eukaryotic spell-checking, Curr. Biol. 5 (1995) 1091-1094.
34. [34] H. Fujii, T. Shimada, Isolation and characterisation of cDNA clones derived from the divergently transcribed gene in the region upstream from the human dihydrofolate reductase gene, J. Biol. Chem. 264 (1989) 10057-10064.
35. [35] Y. Habraken, P. Sung, L. Prakash, S. Prakash, Binding of insertion/deletion DNA mismatches by the heterodimer of yeast mismatch repair proteins MSH2 and MSH3, Curr. Biol. 6 (1996) 1185-1187.
36. [36] S. Markowitz, J. Wang, L. Myerhoff, R. Parsons, L. Sun, J. Lutterbaugh, R.S. Fan, E. Zobrowska, K.W. Kinzler, B. Vogelstein, M. Brattain, J.K.V. Willson, Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability, Science 268 (1995) 1336-1338.
37. [37] L.L. Myeroff, R. Parsons, S.-J. Kim, L. Hedrick, K.R. Cho, K. Orth, M. Mathis, K.W. Kinzler, J. Lutterbaugh, K. Park, Y.-J. Bang, H.Y. Lee, J.-G. Park, H.T. Lynch, A.B. Roberts, B. Vogelstein, S. Markowitz, Transforming growth factor b receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability, Cancer Res. 55 (1995) 5545-5547.
38. [38] R.F. Souza, R. Appel, J. Yin, S. Wang, K.N. Smolinski, J.M. Abraham, T.-T. Zou, Y.-Q. Shi, J. Lei, J. Cottrell, K. Cymes, K. Biden, L. Simms, B. Leggett, P.M. Lynch, M. Frazier, S.M. Powell, N. Harpaz, H. Sugimura, J. Young, S.J. Meltzer, Microsatellite instability in the insulin-like growth factor II receptor gene in astrointestinal tumours, Nat. Genet. 14 (1996) 255-257.
39. [39] N. Rampino, H. Yamamoto, Y. Ionov, Y. Li, H. Sawai, J.C. Reed, M. Perucho, Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype, Science 275 (1997) 967-969.
40. [40] D.C. Bicknell, L. Kaklamanis, R. Hampson, W.F. Bodmer, P. Karran, Selection for β2-microglobulin mutation in mismatch repair-defective colorectal carcinomas, Curr. Biol. 6 (1996) 1695-1697.