Cooperative tumorigenic effects of germline mutations in Rb and p53

Nature Genetics

Volumn 7, Issue 4, 1994, Pages 480-484

  Williams, Bart O ^a   Remington, Lee ^a   Albert, Daniel M ^b   Mukai, Shizuo ^c   Bronson, Roderick T ^d   Jacks, Tyler ^a  

^a MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

^c MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^d TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; BRONCHUS MUCOSA; CANCER DIAGNOSIS; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CELL VIABILITY; EPITHELIUM HYPERPLASIA; GENE MUTATION; GENETIC TRANSFORMATION; MOUSE; NONHUMAN; ONCOGENE; PANCREAS ISLET CELL TUMOR; PINEAL BODY TUMOR; PRIORITY JOURNAL; RETINA MALFORMATION; TUMOR SUPPRESSOR GENE;

ADENOMA, ISLET CELL; ANIMALS; BRAIN NEOPLASMS; BRONCHI; CROSSES, GENETIC; FEMALE; GENES, P53; GENES, RETINOBLASTOMA; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERPLASIA; MALE; MICE; MICE, MUTANT STRAINS; MUTATION; NEOPLASMS, EXPERIMENTAL; ORGAN SPECIFICITY; PHENOTYPE; PINEAL GLAND; PINEALOMA; RETINAL DYSPLASIA;

ANIMALIA; BRONCHUS;

EID: 0028136594     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0894-480     Document Type: Article

References (57)

1. Knudson, A.G. Antioncogenes and human cancer. Proc. natn. Acad. Sci. U.S.A. 90, 10914-10921 (1993).
2. Friend, S.J. et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323, 643-646 (1986).
3. Fung, Y.K. et al. Structural evidence for the authenticity of the human retinoblastoma gene. Science 236, 1657-1661 (1987).
4. Lee, W.J. et al. Human retinoblastoma susceptibility gene: cloning, identification and sequence. Science 235, 1394-1399 (1987).
5. Weinberg, R.A. The retinoblastoma gene and gene product. Cancer Surv.12, 43-57 (1992).
6. Harris, C.C. & Hollstein, M. Clinical implications of the p53 tumor-suppressor gene. New Engl. J. Med. 329, 1318-1327 (1993).
7. Malkin, D. et al. Germline p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250, 1233-1238 (1990).
8. Malkin, D. p53 and the Li-Fraumeni syndrome. Cancer Genet. Cytogenet.66, 83-92 (1993).
9. Van Dyke, T.A. Analysis of viral-host protein interactions and tumorigenesis in transgenic mice. Sem. cancer Biol. 5, 47-60 (1994).
10. Rb) in osteosarcomas and synovial sarcomas. Oncogene Res. 1, 205-214 (1989).
11. Diller, L. et al. p53 functions as a cell cycle control protein In osteosarcomas. Molec. cell. Biol. 10, 5772-5781 (1990).
12. Stratton, M.R. et al. Mutation of the p53 gene in human soft tissue sarcomas: association with abnormalities of the RB1 gene. Oncogene 5, 1297-1301 (1990).
13. Rygaard, K., Sorenson, G.D., Pettengill, O.S., Cate, C.C. & Spang, T.M. Abnormalities in structure and expression of the retinoblastoma gene in small cell lung cancer cell lines and xenografts in nude mice. Cancer Res.50, 5312-5317 (1990).
14. Hensel, C.H. et al. Altered structure and expression of the human retinoblastoma susceptibility gene in small cell lung cancer. Cancer Res.50, 3067-3072 (1990).
15. Hensel, C.H., Xiang, R.H., Sakaguchi, A.Y. & Naylor, S.L. Use of the single strand conformation polymorphism technique and PCR to detect p53 gene mutations in small cell lung cancer. Oncogene 6, 1067-1071 (1991).
16. Prosser, J., Thompson, A.M., Cranston, G. & Evans, H.J. Evidence that p53 behaves as a tumor suppressor gene in sporadic breast tumors.Oncogene 5, 1573-1579 (1990).
17. Varley, J.M. et al. Loss of chromosome 17p13 sequences and mutation of p53 In human breast carcinomas. Oncogene 6, 413-421 (1991).
18. Davidoff, A.M., Humphrey, P.A., Iglehart, J.K. & Marks, J.R. Genetic basis for p53 overexpression in human breast cancer. Proc. natn. Acac. Sci. U.S.A. 88, 5006-5010 (1991).
19. T'Ang, A., Varley, J.M., Chakraborty, S., Murphree, A.L. & Fung, Y.-K.T. Structural rearrangement of the retinoblastoma gene in human breast carcinoma. Science 241, 1797-1800 (1988).
20. Varley, J.M. et al. The retinoblastoma gene is frequently altered leading to loss of expression in primary breast tumours. Oncogene 4, 725-729 (1989).
21. Crook, T., Fisher, C. & Vousden, K.H. p53 point mutation in HPV negative human cervical carcinoma cell lines. Oncogene 6, 873-875 (1991).
22. Scheffner, M., Munger, K., Byrne, J.C. & Howley, P.M. The state of the p53 and retinoblastoma genes in human cervical carcinoma cell lines.Proc. natn. Acad. Sci. U.S.A. 88, 5523-5527 (1991).
23. Ruggeri, B. et al. Human pancreatic carcinomas and cell lines reveal frequent and multiple alterations in the p53 and Rb-1 tumor-suppressor genes. Oncogene 7, 1503-1511 (1992).
24. Hollingsworth, J.R.E., Chen, P.-L. & Lee, W.-H. Integration of cell cycle control with transcriptional regulation by the retinoblastoma protein. Curr. Op. cell Biol. 5, 194-200 (1993).
25. Michalovitz, D., Halevy, O. & Oren, M. Conditional inhibition of transformation and of cell proliferation by a temperature-sensitive mutant of p53. Cell 62, 671-680 (1990).
26. Martinez, J., Georgoff, I., Martinez, J. & Levine, A.J. Cellular localization and cell cycle regulation by a temperature-sensitive p53 protein. Genes Dev. 5, 151-159 (1991).
27. Mercer, W.E. et al. Negative growth regulation in a glioblastoma tuumor cell line that conditionally expressed human wild-type p53. Proc. natn. Acad. Sci. U.S.A. 87, 6166-6170 (1990).
28. Baker, S.J., Markowitz, S., Fearon, E.R., Willson, J.K.V. & Vogelstein, B. Supression of human colorectal carcinoma cell growth by wild-type p53.Science 249, 912-915 (1990).
29. Kastan, M.B., Onyekwere, O., Sidransky, D., Vogelstein, B. & Craig, R.W. Participation of p53 protein in the cellular response to DNA damage.Cancer Res. 51, 6304-6311 (1991).
30. Kastan, M. et al. A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell 71, 587-597 (1992).
31. Shaw, P. et al. Induction of apoptosis by wild-type p53 in a human colon tumor-derived cell line. Proc. natn. Acad. Sci. U.S.A. 89, 4495-4499 (1992).
32. Yonish-Rouach, E. et al. Wild-type p53 induces apoptosis of myeioid leukaemic cells that is inhibited by interteukln-6. Nature 352, 345-347 (1991).
33. Lowe, S.W., Schmitt, E.S., Smith, S.W., Osborne, B.A. & Jacks, T. p53 is required for radiation-induced apoptosis in mouse thymocytes. Nature362, 847-849 (1993).
34. Lowe, S.W., Ruley, H.E., Jacks, T. & Housman, D.E. p53-dependent apoptosis modulates the cytoxioity of anticancer agents. Cell 74, 957-967 (1993).
35. Clarke, A.R. et al. Thymocyte apoptosis induced by p53-dependent and independent pathways. Nature 362, 849-852 (1993).
36. Lee, E.Y.-H.P. et al. Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis. Nature 359, 288-295 (1992).
37. Jacks, T. et al. Effects of an Rb mutation in the mouse. Nature 359, 295-300 (1992).
38. Clarke, A.R. et al. Requirement for a functional Rb-1 gene in murine development. Nature 359, 328-330 (1992).
39. Donehower, L.A. et al. Mice deficient for p53 are developmentally normal but susceptible; to spontaneous tumours. Nature 356, 215-221 (1992).
40. Jacks, T. et al. Tumor spectrum analysis in p53-mutant mice. Curr. Biol.4, 1-7 (1994).
41. Harvey, M. et al. Spontaneous and carcinogen-induced tumours in p53-deficient mice. Nature Genet. 5, 225-229 (1993).
42. Aguayo, S.M. et al. Brief report: idiopathlc diffuse hyperplasia of pulmonary endocrine cells and airways disease. New Engl. J. Med. 327, 1285-1288 (1992).
43. Lane, D.P. p53, guardian of the genome. Nature 358, 15-16 (1992).
44. Livingstone, L.R. et al. Altered cell cycle arrest and gene amplification potential accompany loss of wild-type p53. Cell 70, 923-935 (1992).
45. Yin, Y., Tainksy, M.A., Bischoff, F.Z., Strong, L.C. & Wahl, G.M. Wild-type p53 restores cells cycle control and inhibits gene amplification in cells with mutant p53 alleles. Cell 70, 937-948 (1992).
46. Lowe, S.W., Jacks, T., Housman, D.E. & Ruley, H.E. Abrogation of oncogene-associated apoptosis allows transformation of p53-deficient cells. Proc. natn. Acad. Sci. U.S.A. 91, 2026-2030 (1994).
47. Debbas, M. & White, E. Wild-type p53 mediates apoptosis by E1A, which is inhibited by E1B. Genes Dev. 7, 546-554 (1993).
48. Windle, J.J. et al. Retinoblastoma in transgenic mice. Nature 343, 665-668 (1990).
49. Al-Ubaidi, M.R. et al. Bilateral retinal and brain tumors in transgenic mice expressing simian virus 40 large T antigen under control of the human interphotoreceptor retinoid-binding protein promoter. J. Cell Biol. 119, 1681-1687 (1992).
50. Dyson, N., Buchkovich, K., Whyte, P. & Harlow, E. The cellular 107K protein that binds to adenovirus E1A also associates with the large T antigens of SV40 and JC virus. Cell 58, 249-255 (1989).
51. Ewen, M.E. et al. An N-terminal transformation-governing sequence of SV40 large T antigen contributes to the binding of both p110Rb and a second cellular protein, p120. Cell 58, 257-267 (1989).
52. Wurtman, R.J. & Moskowitz, M.A. The pineal organ. New Engl. J. Med. 296, 1329-1333; 1383-1386 (1977).
53. Jakobiec, F.A., Tso, M.O.M., Zimmerman, L.E. & Danis, P. Retinoblastoma and intracranial malignancy. Cancer 39, 2048-2058 (1977).
54. Stannard, C., Knight, B.K. & Sealy, R. Pineal malignant neoplasm in association with hereditary retinoblastoma. Br. J. Ophthalmol. 69, 749-753 (1985).
55. Pesin, S.R. & Shields, J.A. Seven cases of trilateral retinoblastoma. Am. J. Ophthalmol. 107, 121-126 (1989).
56. Vogelstein, B. & Kinzler, K.W. The multistep nature of cancer. Trends Genet. 9, 138-141 (1993).
57. Hanahan, D. Transgenic mice as probes into complex systems. Science246, 1265-1275 (1989).