Dominant negative effect of the APC1309 mutation: A possible explanation for genotype-phenotype correlations in familial adenomatous polyposis

Cancer Research

Volumn 59, Issue 8, 1999, Pages 1857-1860

  Dihlmann, Susanne ^a   Gebert, Johannes ^a   Siermann, Anja ^a   Herfarth, Christian ^a   Von Knebel Doeberitz, Magnus ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOMATOUS POLYP; ARTICLE; COLON CARCINOGENESIS; COLORECTAL CANCER; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; COLORECTAL NEOPLASMS; CYTOSKELETAL PROTEINS; GENES, REPORTER; GENOTYPE; HUMANS; MUTATION; PHENOTYPE;

EID: 0033561521     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. 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.
2. Kinzler, K. W., and Vogelstein, B. Lessons from hereditary colon cancer. Cell, 87: 159-170, 1996.
3. Polakis, P. Mutations in the APC gene and their implications for protein structure and function. Curr. Opin. Genet. Dev., 5: 66-71, 1995.
4. Spirio, L., Olschwang, S., Groden, J., Robertson, M., Samowitz, W., Joslyn, G., Gelbert, L., Thliveris, A., Carlson, M., Otterud, B., Lynch, H., Watson, P., Lynch, P., Laurent-Puig, P., Burt, R., Hughes, J. P., Thomas, G., Leppert, M., and White, R. Alleles of the APC gene: an attenuated form of familial polyposis. Cell, 75: 951-957, 1993.
5. van der Luijt, R. B., Meera Khan, P., Vasen, H. F. A., Breukel, C., Tops, C. M. J., Scott R. J., and Fodde, R. Germ-line mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum. Genet., 98: 727-734, 1996.
6. Friedl, W., Meuschel, S., Caspari, R., Lamberti, C., Krieger, S., Sengteller, M., and Propping, P. Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein. Hum. Genet., 97: 579-584, 1996.
7. Nagase, H., Miyoshi, Y., Horii, A., Aoki, T., Ogawa, M., Utsunomiya, J., Baba, S. Sasazuki, T., and Nakamura, Y. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res., 52: 4055-4057, 1992.
8. Gayther, S. A., Wells, D., SenGupta, S. B., Chapman, P., Neale, K., Tsioupra, K., and Delhanty, J. D. A. Regionally clustered APC mutations are associated with a severe phenotype and occur at high frequency in new mutation cases of adenomatous polyposis coli. Hum. Mol. Genet., 3: 53-56, 1994.
9. Davies, D. R., Armstrong, J. G., Thakker, N., Horner, K., Guy, S. P., Clancy, T., Warnes, T. W., Harris, R., and Evans, G. R. Severe Garder syndrome in families with mutations restricted to a specific region of the APC gene. Am. J. Hum. Genet., 57: 1151-1158, 1995.
10. Caspari, R., Olschwang, S., Friedl, W., Mandl, M., Boisson, C., Böker, T., Augustin, A., Kadmon, M., Möslein, G., Thomas, G., and Propping, P. Familial adenomatous polyposis: desmoid tumors and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum. Mol. Genet., 4: 337-340, 1995.
11. Dobbie, Z., Spycher, M., Mary J-L., Häner, M., Guldenschuh, I., Hürliman, R., Amman, R., Roth, J., Muller, H., and Scott, R. J. Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. J. Med. Genet., 33: 274-280, 1996.
12. Rubinfeld, B., Albert, I., Porfiri, E., Fiol, C., Munemitsu, S., and Polakis, P. Binding of GSK3β to the APC-β-catenin complex and regulation of complex assembly. Science (Washington DC), 272: 1023-1025, 1996.
13. Sakanaka, C, Weiss, J. B., and Williams, T. Bridging of β-Catenin and glycogen synthase kinase 3β by axin and inhibition of β-catenin-mediated transcription. Proc. Natl. Acad. Sci. USA, 95: 3020-3023, 1998.
14. Behrens J., Jerchow, B-A., Würtele, M., Grimm, J., Asbrand, C., Wirtz, R., Kühl, M., Wedlich, D., and Birchmeier, W. Functional interaction of an axin homolog conductin, with β-catenin, APC, and GSK3β. Science (Washington DC), 280: 596-599, 1998.
15. Gossen, M., and Bujard, H. Tight control of gene expression in mammalian cells by tetracycline-responsive promoters. Proc. Natl. Acad. Sci. USA, 89: 5547-5551, 1992.
16. Mahmoud, N. N., Boolbol, S. K., Bilinski, R. T., Martucci, C., Chadburn, A., and Bertagnolli, M. M. Apc gene mutation is associated with a dominant-negative effect upon intestinal cell migration. Cancer Res., 57: 5045-5050, 1997.
17. Santucci, R., Volpe, L., Zannoni, U., Paganelli, G. M., Poggi, B., Calabrese, C., and Biasco, G. Cell proliferation of the duodenal mucosa in patients affected by familial adenomatous polyposis. Gastroenterology, 113: 1159-1162, 1997.
18. -/- colon carcinoma. Science (Washington DC), 275: 1784-1787, 1997.
19. Morin, P. J., Sparks, A. B., Korinek, V., Barker, N., Clevers, H., Vogelstein, B., and Kinzler, K. W. Activation of β-catenin-Tcf- signaling in colon cancer by mutations in β-catenin or APC. Science (Washington DC), 275: 1787-1790, 1997.
20. Porfiri, E., Rubinfeld, B., Albert, I., Hovanes, K., Waterman, M., and Polakis, P. Induction of a β-catenin-LEF-1 complex by wnt-1 and transforming mutants of β-catenin. Oncogene, 15: 2833-2839, 1997.
21. Nagase H., and Nakamura, Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum. Mutat., 2: 425-434, 1993.
22. Su, L. K., Johnson, K. A., Smith, K. J., Hill, D. E., Vogelstein, B., and Kinzler, K. W. Association belween wild-type and mutant APC gene products. Cancer Res., 53: 2728-2731, 1993.
23. Smith, K. J., Johnson, K. A., Bryan, T. M., Hill, D. E., Markowitz, S., Willson, J. K., Paraskeva, C., Petersen, G. M., Hamilton, S. R., Vogelstein, B., and Kinzler, K. W. The APC gene product in normal and in tumor cells. Proc. Natl. Acad. Sci. USA, 90: 2846-2850, 1993.
24. Gismondi, V., Stagnaro, P., Pedemonte, S., Biticchi, R., Presciuttini, S., Grammatico, P., Sala, P., Bertario, L., Groden, J., and Varesco, L. Chain-terminating mutations in the APC gene lead to alterations in APC RNA and protein concentration. Genes Chromosomes Cancer, 22: 278-286, 1998.
25. Oshima, M., Oshima, H., Kobayashi, M., Tsutsumi, M., and Taketo, M. M. Evidence against dominant negative mechanisms of intestinal polyp formation by Ape gene mutations. Cancer Res., 5: 2719-2722, 1995.
26. Nicolaides, N. C., Littman, S. J., Modrich, P., Kinzler, K. W., and Vogelstein, B. A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. Mol. Cell. Biol., 18: 1635-1641, 1998.