A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype

Molecular and Cellular Biology

Volumn 18, Issue 3, 1998, Pages 1635-1641

  Nicolaides, Nicholas C ^a,c   Littman, Susan J ^d   Modrich, Paul ^d,e   Kinzler, Kenneth W ^a   Vogelstein, Bert ^a,b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c Genaera Corporation   (United States)

^d DUKE UNIVERSITY   (United States)

^e DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; CANCER GENETICS; CANCER SUSCEPTIBILITY; CARCINOGENESIS; COLON CANCER; COLORECTAL CANCER; CONTROLLED STUDY; GENE MUTATION; GENETIC PREDISPOSITION; MUTAGENESIS; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031910118     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.18.3.1635     Document Type: Article

References (30)

1. Baker, S. M., C. E. Bronner, L. Zhang, A. W. Plug, M. Robatez, G. Warren, E. A. Elliott, J. Yu, T. Ashley, N. Arnheim, N. Bradley, R. A. Flavell, and R. M. Liskay. 1995. Male defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 82:309-319.
2. Bronner, C. E., S. M. Baker, P. T. Morrison, G. Warren, L. G. Smith, M. K. Lescoe, M. Kane, C. Earabino, J. Lipford, A. Lindblom, P. Tannergard, R. J. Bollag, A. R. Godwin, D. C. Ward, M. Nordenskjold, R. Fishel, R. Kolodner, and R. M. Liskay. 1994. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368:258-261.
3. de Wind, N., M. Dekker, A. Berns, M. Radman, and H. T. Riele. 1995. Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer. Cell 82:321-300.
4. Drummond, J. T., G. M. Li, M. J. Longley, and P. Modrich. 1995. Isolation of an hMSH2-p160 heterodimer that restores mismatch repair to tumor cells. Science 268:1909-1912.
5. Drummond, J. T., A. Anthoney, R. Brown, and P. Modrich. 1996. Cisplatin and adriamycin resistance are associated with MutLα and mismatch repair deficiency in an ovarian tumor cell line. J. Biol. Chem. 271:9645-19648.
6. Edelmann, W., P. E. Cohen, M. Kane, K. Lau, B. Morrow, S. Bennett, A. Umar, T. Kunkel, G. Cattoretti, R. Chagnatti, J. W. Pollard, R. D. Kolodner, and R. Kucherlapati. 1996. Meiotic pachytene arrest in MLH1-deficient mice. Cell 85:1125-1134.
7. Fishel, R., M. Lescoe, M. R. S. Rao, N. J. Copeland, N. A. Jenkins, J. Garber, M. Kane, and R. Kolodner. 1993. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 7:1027-1038.
8. Green, S., I. Issemann, and E. Sheer. 1988. A versatile in vivo eucaryotic expression vector for protein engineering. Nucleic Acids Res. 16:369.
9. Hamilton, S. R., B. Liu, R. E. Parsons, N. Papadopoulos, J. Jen, S. M. Powell, A. J. Krush, T. Berk, Z. Cohen, B. Tetu, K. W. Kinzler, and B. Vogelstein. 1995. The molecular basis of Turcot's syndrome. N. Engl. J. Med. 332:839-847.
10. Holmes, J., S. Clark, and P. Modrich. 1990. Strand specific mismatch correction in nuclear extracts of human and Drosophila melanogaster cell lines. Proc. Natl. Acad. Sci. USA 87:5837-5841.
11. Leach, F. S., N. C. Nicolaides, N. Papadopoulos, B. Liu, J. Jen, R. Parsons, P. Peltomaki, P. Sistonen, L. A. Aaltonen, M. Nystrom-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, J. A. Jarvlnen, 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, and B. Vogelstein. 1993. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225.
12. Li, G.-M., and P. Modrich. 1995. Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human mutL homologs. Proc. Natl. Acad. Sci. USA 92:1950-1954.
13. Liu, B., R. Parsons, N. Papadopoulos, N. C. Nicolaides, H. T. Lynch, P. Watson, J. R. Jass, M. Dunlop, A. Wyllie, P. Peltomaki, A. de la Chapelle, S. R. Hamilton, B. Vogelstein, and K. W. Kinzler. 1996. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat. Med. 2:169-174.
14. Modrich, P. 1994. Mismatch repair, genetic stability, and cancer. Science 266:1959-1960.
15. Nicolaides, N. C., R. Gualdi, C. Casadevall, L. Manzella, and B. Calabretta. 1991. Positive autoregulation of c-myb expression via MYB binding in the 5′ flanking region of the human c-myb gene. Mol. Cell. Biol. 11:6166-6176.
16. Nicolaides, N. C., I. Correa, C. Casadevall, S. Travali, K. J. Soprano, and B. Calabretta. 1992. The Jun family members, c-JUN and JUND, transactivate the human c-myb promoter via an Ap1 like element. J. Biol. Chem. 267: 19665-19672.
17. Nicolaides, N. C., 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, C. J. Venter, M. G. Dunlop, S. R. Hamilton, G. M. Petersen, A. de la Chapelle, B. Vogelstein, and K. W. Kinzler. 1994. Mutations of two PMS homologs in hereditary nonpolyposis colon cancer. Nature 371:75-80.
18. Nicolaides, N. C., K. W. Kinzler, and B. Vogelstein. 1995. Analysis of the 5′ region of PMS2 reveals heterogenous transcripts and a novel overlapping gene. Genomics 29:329-334.
19. Nicolaides, N. C., K. C. Carter, B. K. Shell, N. Papadopoulos, B. Vogelstein, and K. W. Kinzler. 1995. Genomic organization of the human PMS2 gene family. Genomics 30:195-206.
20. Nicolaides, N. C., F. Palombo, K. W. Kinzler, B. Vogelstein, and J. Jiricny. 1996. Molecular cloning of the N-terminus of GTBP. Genomics 31:395-397.
21. Palombo, F., M. Hughes, J. Jiricny, O. Truong, and J. Hsuan. 1994. Mismatch repair and cancer. Nature 367:417.
22. Palombo, F., P. Gallinari, I. Iaccarino, T. Lettleri, M. A. Hughes, O. Truong, J. J. Hsuan, and J. Jiricny. 1995. GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 268:1912-1914.
23. Pang, Q., T. A. Prolla, and R. M. Liskay. 1997. Functional domains of the Saccharomyces cerevisiae Mlh1p and Pms1p DNA mismatch repair proteins and their relevance to human hereditary nonpolyposis colorectal cancer-associated mutations. Mol. Cell. Biol. 17:4465-4473.
24. Papadopoulos, N., N. C. Nicolaides, Y. F. Wei, K. C. Carter, S. M. Ruben, C. A. Rosen, W. A. Haseltine, R. D. Fleischmann, C. M. Fraser, M. D. Adams, C. J. Venter, M. G. Dunlop, S. R. Hamilton, G. M. Petersen, A. de la Chapelle, B. Vogelstein, and K. W. Kinzler. 1994. Mutation of a mutL homolog is associated with hereditary colon cancer. Science 263:1625-1629.
25. + tumor cells. Cell 75:1227-1236.
26. Parsons, R., G. M. Li, M. Longley, P. Modrich, B. Liu, T. Berk, S. R. Hamilton, K. W. Kinzler, and B. Vogelstein. 1995. Mismatch repair deficiency in phenotypically normal human cells. Science 268:738-740.
27. Perucho, M. 1996. Cancer of the microsattelite mutator phenotype. Biol. Chem. 377:675-684.
28. Prolla, T. A., Q. Pang, E. Alani, R. A. Kolodner, and R. M. Liskay. 1994. MLH1, PMS1, and MSH2 interaction during the initiation of DNA mismatch repair in yeast. Science 264:1091-1093.
29. Strand, M., T. A. Prolla, R. M. Liskay, and T. D. Petes. 1993. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365:274-276.
30. Su, S. S., R. S. Lahue, K. G. Au, and P. Modrich. 1988. Mispair specificity of methyl directed DNA mismatch corrections in vitro. J. Biol. Chem. 263: 6829-6835.