Tumour suppressor gene mutations in humans and mice: Parallels and contrasts

EMBO Journal

Volumn 17, Issue 23, 1998, Pages 6783-6789

  Hooper, Martin L ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Cancer genetics; Denys Drash syndrome; Gene targeting; Retinoblastoma; Tumour suppressor gene

Indexed keywords

CANCER PREVENTION; GENE MUTATION; GENE TARGETING; HUMAN; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TUMOR SUPPRESSOR GENE;

ANIMALIA;

EID: 0032401738     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/17.23.6783     Document Type: Review

References (59)

1. Armstrong, J.F. and Hooper, M.L. (1998) Inbreeding abolishes the effect of parental origin of a mutant Rb-l allele on pituitary tumourigenesis in mice. Br. J. Cancer, 78, 484-485.
2. Baker, S.M. et al. (1995) Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell, 82, 309-319.
3. Baker, S.M. et al. (1996) Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over. Nature Genet., 13, 336-342.
4. Bellamy, C.O.C., Malcomson, R.D.G., Harrison, D.J. and Wyllie, A.H. (1995) Cell death in health and disease: the biology and regulation of apoptosis. Semin. Cancer Biol., 6, 3-16.
5. Brehm, A., Miska, E.A., McCance, D.J., Reid, J.L., Bannister, A.J. and Kouzarides, T. (1998) Retinoblastoma protein recruits histone deacetylase to repress transcription. Nature, 391, 597-601.
6. Bronner, C.E. et al. (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature, 368, 258-261.
7. Bronson, S.K., Smithies, O. and Mascarello, J.T. (1995) High incidence of XXY and XYY males among the offspring of female chimaeras from embryonic stem cells. Proc. Natl Acad. Sci. USA, 92, 3120-3123.
8. Denys, P., Malvaux, P., van den Berghe, H., Tanghe, W. and Proesmans, W. (1967) Association of an anatomo-pathological syndrome of male pseudohermaphroditism. Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism. Arch. Fr. Pédiatr., 24, 729-739.
9. Drash, A., Sherman, F., Hartmann, W. and Blizzard, R. (1970) A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension and degenerative renal disease. J. Pediatr., 76, 585-593.
10. Edelmann, W. et al. (1997) Mutation in the mismatch repair gene msh6 causes cancer susceptibility. Cell, 91, 467-477.
11. Fishel, R., Lescoe, M.K., Rao, M.R., Copeland, N.G., Jenkins, N.A., Garber, J., Kane, M. and Kolodner, R. (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75, 1027-1038.
12. Glaser, T., Lane, J. and Housman, D.A. (1990) A mouse model of the aniridia-Wilms' tumour deletion syndrome. Science, 250, 823-827.
13. Gnarra, J.R., Ward, J.M., Porter, F.D., Wagner, J.R. and Devor, D.E. (1997). Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice. Proc. Natl Acad. Sci. USA, 94, 9102-9107.
14. Gowen, L.C., Johnson, B.L., Latour, A.M., Sulik, K.K. and Koller, B.H. (1996) Brcal deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities. Nature Genet., 12, 191-194.
15. Guilford, P. et al. (1998) E-cadherin germline mutations in familial gastric cancer. Nature, 392, 402-405.
16. Haber, D.A. et al. (1992) A dominant mutation in the Wilms' tumour gene WT1 cooperates with the viral oncogene E1A in transformation of primary kidney cells. Proc. Natl Acad. Sci. USA, 89, 6010-6014.
17. Hakem, R. et al. (1996) The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell, 85, 1009-1023.
18. t19neo allele in the mouse. Oncogene, 10, 1615-1620.
19. Hastie, N.D. (1994) The genetics of Wilms' tumor - A case of disrupted development. Annu. Rev. Genet., 28, 523-558.
20. van Heyningen, V. (1997) Sugar and spice and all things splice? Nature Genet., 17, 367-368.
21. Hooper, M.L. (1992) Embryonal Stem Cells: Introducing Planned Changes into the Animal Germline. Harwood Academic Publishers gmbh, Chur, Switzerland.
22. Hooper, M.L. (1994) The role of the p53 and Rb-1 genes in cancer, development and apoptosis. J. Cell Sci. Suppl., 18, 13-17.
23. Hooper, M.L. (1996) Analysis of oncosuppressor gene function in the mouse by gene targeting. In Zander, A., Ostertag, W., Afanasiev, B. and Grosveld, F. (eds), Gene technology in Analysis and Treatment of Malignant and Inherited Diseases Related to Development. NATO ASI Series, Subseries H 'Cell Biology', Vol. 94. Springer-Verlag, Berlin, pp. 263-281.
24. Hooper, M.L. (1998) Is sunlight an aetiological agent in the genesis of retinoblastoma? Br. J. Cancer, in press.
25. Howe, J.R. et al. (1998) Mutations in the smad4/dpc4 gene in juvenile polyposis. Science, 280, 1086-1088.
26. Δ20/+ mice are predisposed to tumors of the pituitary gland with a nearly complete penetrance. Oncogene, 9, 1021-1027.
27. Jacks, T., Fazeli, A., Schmitt, E.M., Bronson, R.T., Goodell, M.A. and Weinberg, R.A. (1992) Effects of an Rb mutation in the mouse. Nature, 359, 295-300.
28. Kinzler, K.W. and Vogelstein, B. (1998) Familial cancer syndromes: the role of caretakers and gatekeepers. In Vogelstein, B. and Kinzler, K.W. (eds), The Genetic Basis of Human Cancer. McGraw-Hill, New York, pp. 241-242.
29. Knudson, A.G. (1993) Antioncogenes and human cancer. Proc. Natl Acad. Sci. USA, 90, 10914-10921.
30. Kreidberg, J.A., Sariola, H., Loring, J.M., Maeda, M., Pelletier, J., Housman, D. and Jaenisch, R. (1993) WT-1 is required for early kidney development. Cell, 74, 679-691.
31. Larue, L., Ohsugi, M. Hirchenhain, J. and Kemler, R. (1994) E-cadherin null mutant embryos fail to form a trophectoderm epithelium. Proc. Natl Acad. Sci. USA, 91, 8263-8267.
32. Leach, F.S. et al. (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell, 75, 1215-1225.
33. Little, M. and Wells, C. (1997) A clinical overview of WT1 gene mutations. Hum. Mutat., 9, 209-225.
34. Liu, C.Y., Flesken-Nikitin, A., Li, S., Zeng, Y.Y. and Lee, W.H. (1996) Inactivation of the mouse Brcal gene leads to failure in the morphogenesis of the egg cylinder in early postimplantation development. Genes Dev., 10, 1835-1843.
35. Ludwig, T., Chapman, D.L., Papaioannou, V.E. and Efstratiadis, A. (1997) Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of brca1, brca2, brca1/brca2, brca1/p53 and brca2/p53 nullizygous embryos. Genes Dev., 11, 1226-1241.
36. Magnaghi-Jaulin, L., Groisman, R., Naguibneva, I., Robin, P., Lorain, S., LeVillain, J.P., Troalen, F., Trouche, D. and Harel-Bellan, A. (1998) Retinoblastoma protein represses transcription by recruiting a histone deacetylase. Nature, 391, 601-605.
37. Miyaki, M. et al. (1997) Germline mutation of msh6 as the cause of hereditary nonpolyposis colorectal cancer. Nature Genet., 17, 271-272.
38. Moffett, P., Bruening, W., Nakagama, H., Bardeesey, N., Housman, D., Housman, D.E. and Pelletier, J. (1995) Antagonism of WT1 activity by protein self-association. Proc. Natl Acad. Sci. USA, 92, 11105-11109.
39. Mortensen, R.M., Conner, D.A., Chao, S., Geisterfer-Lowrance, A.A.T. and Seidman, J.G. (1992) Production of homozygous mutant ES cells with a single targeting construct. Mol. Cell. Biol., 12, 2391-2395.
40. Mulligan, G. and Jacks, T. (1998) The retinoblastoma gene family: cousins with overlapping interests. Trends Genet., 14, 223-229.
41. Nicolaides, N.C. et al. (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature, 371, 75-80.
42. Nikitin, A.Y., Riley, D.J. and Lee, W.-H. (1997) Earlier onset of melanotroph carcinogenesis in mice with inherited mutant paternal allele of the retinoblastoma gene. Cancer Res., 57, 4274-4278.
43. Papadopoulos, N. et al. (1994) Mutation of mutL homolog in hereditary colon cancer. Science, 263, 1625-1629.
44. Patek, C.E. et al. (1998) A zinc finger truncation of murine wt1 induces the characteristic phenotype of Denys-Drash syndrome. J. Pathol., 184, A16.
45. Porter, A. (1998) Controlling your losses: conditional gene silencing in mammals. Trends Genet., 14, 73-79.
46. Pritchard-Jones, K. (1997) Molecular genetic pathways to Wilms Tumor. Crit. Rev. Oncog., 8, 1-27.
47. Reitmair, A.H. et al. (1995) MSH2 deficient mice are viable and susceptible to lymphoid tumours. Nature Genet., 11, 64-70.
48. Riethmacher, D., Brinkman, V. and Birchmeier, C. (1995) A targeted mutation in the mouse E-cadherin gene results in defective preimplantation development. Proc. Natl Acad. Sci. USA, 92, 855-859.
49. Robanus-Maandag, E.C., van der Valk, M., Vlaar, M., Feltkamp, C., O'Brien, J., van Roon, M., van der Lugt, N., Berns, A. and te Riele, H. (1994) Developmental rescue of an embryonic-lethal mutation in the retinoblastoma gene in chimeric mice. EMBO J., 13, 4260-4268.
50. Robanus Maandag, E., Dekker, M., van der Valk, M., Carrozza, M.-L., Jeanny, J.-C., Dannenberg, J.-H., Berns, A. and te Riele, H. (1998) p 107 is a suppressor of retinoblastoma development in pRb-deficient mice. Genes Dev., 12, 1599-1609.
51. Sirard, C. et al. (1998) The tumor suppressor gene smad4/dpc4 is required for gastrulation and later for anterior development of the mouse embryo. Genes Dev., 12, 107-119.
52. Suzuki, A. et al. (1997) Brca2 is required for embryonic cellular proliferation in the mouse. Genes Dev., 11, 1242-1252.
53. Toguchida, J., Ishizaki, K., Sasaki, M.S., Nakamura, Y., Ikenaga, M., Kato, M., Sugimoto, M., Kotoura, Y. and Yamamuro, T. (1989) Preferential mutation of paternally derived RB gene as the initial event in sporadic osteosarcoma. Nature, 338, 156-158.
54. Williams, B.O. and Jacks, T. (1996) Mechanisms of carcinogenesis and the mutant mouse. Curr. Opin. Genet. Dev., 6, 65-70.
55. Williams, B.O., Remington, L., Albert, D.M., Mukai, S., Bronson, R.T. and Jacks, T. (1994a) Cooperative tumorigenic effects of germline mutations in Rb and p53. Nature Genet., 7, 480-484.
56. Williams, B.O., Schmitt, E.M., Remington, L., Bronson, R.T., Albert, D.M., Weinberg, R.A. and Jacks, T. (1994b) Extensive contribution of Rb-deficient cells to adult chimeric mice with limited histopathological consequences. EMBO J., 13, 4251-4259.
57. de Wind, N., Dekker, M., Berns, A., Radman, M. and te Riele, H. (1995) Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination and predisposition to cancer. Cell, 82, 321-330.
58. de Wind, N., Dekker, M., van Rossum, A., van der Valk, M. and te Riele, H. (1998) Mouse models for hereditary nonpolyposis colorectal cancer. Cancer Res., 58, 248-255.
59. Wooster, R. et al. (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature, 378, 789-792.