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DNA Dynamics and Chromosome Structure

A Naturally Occurring hPMS2 Mutation Can Confer a Dominant Negative Mutator Phenotype

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Pages 1635-1641 | Received 08 Aug 1997, Accepted 26 Nov 1997, Published online: 28 Mar 2023

REFERENCES

  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Green, S., I. Issemann, and E. Sheer 1988. A versatile in vivo eucaryotic expression vector for protein engineering. Nucleic Acids Res. 16: 369.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Modrich, P. 1994. Mismatch repair, genetic stability, and cancer. Science 266: 1959–1960.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Palombo, F., M. Hughes, J. Jiricny, O. Truong, and J. Hsuan 1994. Mismatch repair and cancer. Nature 367: 417.
  • 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.
  • 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.
  • 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.
  • Parsons, R., G. M. Li, M. J. Longley, W. H. Fang, N. Papadopoulos, J. Jen, A. de la Chapelle, K. W. Kinzler, B. Vogelstein, and P. Modrich 1993. Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 75: 1227–1236.
  • 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.
  • Perucho, M. 1996. Cancer of the microsattelite mutator phenotype. Biol. Chem. 377: 675–684.
  • 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.
  • 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.
  • 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.

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