Tumor suppressor mutations in mice: The next generation

Current Opinion in Genetics and Development

Volumn 8, Issue 3, 1998, Pages 304-310

  McClatchey, Andrea I ^a   Jacks, Tyler ^b  

^a MASSACHUSETTS GENERAL HOSPITAL CANCER CENTER   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; CANCER THERAPY; CARCINOGENESIS; FAMILIAL CANCER; GENE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; REVIEW; TUMOR SUPPRESSOR GENE;

EID: 0032102650     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(98)80086-5     Document Type: Article

References (57)

1. Knudson AG. Retinoblastoma: a proteotypic hereditary neoplasm. Semin Oncol. 5:1978;57-60.
2. Jacks T. Tumor suppressor gene mutations in mice. Annu Rev Genet. 30:1996;603-636.
3. Hooper JE, Scott MP. The Drosophila patched gene encodes a putative membrane protein required for segmental patterning. Cell. 59:1989;751-765.
4. Nakano Y, Guerrero I, Hidalgo A, Taylor A, Whittle JRS, Ingham P. A protein with several possible membrane spanning domains encoded by the Drosophila segment polarity gene patched. Nature. 341:1989;508-513.
5. Ingham PW, Taylor AM, Nakano Y. Role of the Drosophila patched gene in positional signaling. Nature. 353:1991;184-190.
6. Hahn H, Wicking C, Zaphiropoulos PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, et al. Mutations of the human homologue of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. 85:1996;841-851.
7. Johnson R, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH Jr, Scott MP. Human homologue of patched, a candidate gene for the basal cell nevus syndrome. Science. 272:1996;1668-1671.
8. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. 69:1997;299-308.
9. Raffel C, Jenkins RB, Frederick L, Hebrink D, Alderete B, Fults DW, James CD. Sporadic medulloblastomas contain PTCH mutations. Cancer Res. 57:1997;842-845.
10. Xie J, Johnson RL, Zhang X, Bare JW, Waldman FM, Cogen PH, Menon AG, Warren RS, Chen LC, Scott MP, Epstein EH Jr. Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. Cancer Res. 57:1997;2369-2372.
11. Wolter M, Reifenberger J, Sommer C, Ruzicka T, Reifenberger G. Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Res. 57:1997;2581-2585.
12. Vorechovsky I, Tingby O, Hartman M, Stromberg B, Nister M, Collins VP, Toftgard R. Somatic mutations in the human homologue of Drosophila patched in primitive neuroectodermal tumours. Oncogene. 15:1997;361-366.
13. Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH Jr, Scott MP. Basal cell carcinomas in mice overexpressing sonic hedgehog. of outstanding interest Science. 276:1997;817-821 Transgenic epidermal overexpression of Shh, which represses the Ptc tumor suppressor, leads to the development of lesions resembling the BCCs of BCNS patients. This work provides a mouse model for BCC development and strongly supports the idea that overexpression of Shh - at least in the skin - mimics loss of the Ptc tumor suppressor.
14. +/- mice develop tumors resembling medulloblastoma, which occurs in BCNS patients at levels much higher than in the normal population.
15. Hammerschmidt M, Brook A, McMahon AP. The world according to hedgehog. Trends Genet. 13:1997;14-21.
16. Sasai Y, De Robertis EM. Ectodermal patterning in vertebrate embryos. Dev Biol. 182:1997;5-20.
17. Serrano M, Hannon GJ, Beach D. A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature. 366:1993;704-707.
18. Kamb A, Gruis NA, Weaver-Feldhaus J, Liu Q, Harshman K, Tavtigian SV, Stockert E, Day RS III, Johnson BE, Skolnick MH. A cell cycle regulator potentially involved in genesis of many tumor types. Science. 264:1994;436-440.
19. Sherr CJ, Roberts JM. Inhibitors of mammalian G1 cyclin-dependent kinases. Genes Dev. 9:1995;1149-1163.
20. Weinberg RA. The retinoblastoma protein and cell cycle control. Cell. 81:1995;323-330.
21. Pollack PM, Pearson JV, Hayward NK. Compilation of somatic mutations of the CDKN2 gene in human cancers: non-random distribution of base substitutions. Genes Chromosomes Cancer. 15:1996;77-88.
22. INK4B is a potential effector of TGF-induced cell cycle arrest. Nature. 371:1994;257-261.
23. Quelle DE, Ashmun RA, Rehberger PA, Trono D, Richter KH, Walker C, Beach D, Sherr CJ, Serrano M. Cloning and characterization of murine p16INK4a and p15INK4b genes. Oncogene. 11:1995;635-645.
24. Quelle DE, Zindy F, Ashmun RA, Sherr CJ. Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell. 83:1995;993-1000.
25. Fitzgerald MG, Harkin DP, Silva-Arrieta S, MacDonald DJ, Lucchina LC, Unsal H, O'Neill E, Koh J, Finkelstein DM, Isselbacher KJ, et al. Prevalence of germline mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. Proc Natl Acad Sci USA. 93:1996;8541-8545.
26. ARF. Proc Natl Acad Sci USA. 94:1997;669-673.
27. ARF alone.
28. Clarke AR, Maandag ER, van Roon M, van der Lugt NMT, van der Valk M, Hooper ML, Berns A, te Riele H. Requirement for a functional Rb-1 gene in murine development. Nature. 359:1992;328-330.
29. Jacks T, Fazeli A, Schmitt EM, Bronson RT, Goodell MA, Weinberg RA. Effects of an Rb mutation in the mouse. Nature. 359:1992;295-300.
30. Lee EY-HP, Chang C-Y, Hu N, Wang Y-CJ, Lai C-C, Herrup K, Lee W-H, Bradley A. Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis. Nature. 359:1992;288-294.
31. ARF (see [40]).
32. Powell MB, Hyman P, Bell OD, Balmain A, Brown K, Alberts D, Bowden GT. Hyperpigmentation and melanocytic hyperplasia in transgenic mice expressing the human T24 Ha-ras gene regulated by a mouse tyrosinase promoter. Mol Carcinog. 12:1995;82-90.
33. ARF-null mice and cells.
34. ARF, interacts with MDM2 and neutralizes MDM2's inhibition of p53. of outstanding interest Cell. 92:1998;713-723 See annotation [35].
35. ARF and p53.
36. Reznikoff CA, Yeager TR, Belair CD, Savelieva E, Puthenveettil JA, Stadler WM. Elevated p16 at senescence and loss of p16 at immortalization in human papillomavirus 16 E6, but not E7, transformed human uroepithelial cells. Cancer Res. 56:1996;2886-2890.
37. INK4 expression and telomere length during spontaneous immortalization of Li-Fraumeni syndrome fibroblasts. Mol Cell Biol. 15:1996;4745-4753.
38. INK4a tumor suppressor versus other INK4 family members during mouse development and aging. Oncogene. 15:1997;203-211.
39. Weinberg RA. Oncogenes, antioncogenes, and the molecular bases of multistep carcinogenesis. Cancer Res. 49:1989;3713-3721.
40. Ink4a tumor suppressor, suggesting that senescence may be a cellular response to oncogenic activation that prevents further cell division.
41. McClatchey AI, Saotome I, Ramesh V, Gusella JF, Jacks T. The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. of special interest Genes Dev. 11:1996;1253-1265 See annotation [42].
42. Sirard C, de la Pompa JL, Elia A, Itie A, Mirtsos C, Cheung A, Hahn S, Wakeham A, Schwartz L, Kern SE, et al. The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo. of special interest Genes Dev. 12:1997;107-119 This report and [41] describe the use of IacZ-marked, tumor suppressor null cells to generate chimeras in which the null lineage can be colorimetrically traced. This type of analysis can be used to bypass the embryonic lethality of complete homozygosity and investigate the requirement for a particular tumor suppressor gene at later stages of development, to examine the consequences of tumor suppressor deficiency in adult tissues or to generate pure populations of tumor suppressor null primary cells (see [43]).
43. Brugarolas J, Chandrasekaran C, Gordon JI, Beach D, Jacks T, Hannon GJ. Radiation-induced cell cycle arrest compromised by p21 deficiency. of special interest Nature. 377:1996;552-557 The results described in this paper utilize the selection of tumor suppressor null primary fibroblasts from chimeric embryos on the basis of their neomycin-resistance.
44. Chen J, Gorman JR, Stewart V, Williams B, Jacks T, Alt F. Generation of normal lymphocyte populations by Rb-deficient embryonic stem cells. Curr Biol. 3:1993;405-413.
45. Gu H, Marth JD, Orban PC, Mossman H, Rajewsky K. Deletion of a DNA polymerase gene segment in T cells using cell type-specific gene targeting. Science. 265:1994;103-106.
46. Shibata H, Toyama K, Shioya H, Ito M, Hirota M, Hasegawa S, Matsumoto H, Takano H, Akiyama T, Toyoshima K, et al. Rapid colorectal adenoma formation initiated by conditional targeting of the Apc gene. of outstanding interest Science. 278:1997;120-123 A description of the first example of the conditional targeting of a tumor suppressor gene. Adenoviral-expressing Cre was delivered directly to colonic tissue, resulting in tissue-specific deletion of a IoxP-flanked allele of the APC tumor suppressor gene.
47. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P. Mutations of chromosome 5q21 genes in FAP and colorectal cancer. Science. 253:1991;665-669.
48. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 66:1991;589-600.
49. Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samozitz W, Groden J, Stevens J, Spirio L, Robertson M, et al. The identification of deletion mutations and three new genes at the familial polyposis locus. Cell. 66:1991;601-613.
50. Moser AR, Pitot HC, Dove WF. A dominant mutation that predisposes to multiple intestinal neoplasia in the mouse. Science. 247:1990;322-324.
51. Su L-K, Kinzler KW, Vogelstein B, Preisinger AC, Moser AR, Luongo C, Gould K, Dove WF. Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene. Science. 256:1992;668-670.
52. Fodde R, Edelmann W, Yang K, van Leeuwen C, Carlson C, Renault B, Breukel C, Alt E, Lipkin M, Khan PM, Kucherlapati R. A targeted chain termination in the mouse Apc gene results in multiple intestinal tumors. Proc Natl Acad Sci USA. 91:1994;8969-8973.
53. Oshima M, Oshima H, Kitagawa K, Kobayashi M, Itakura C, Taketo M. Loss of Apc heterozygosity and abnormal tissue building in nascent intestinal polyps in mice carrying a truncated Apc gene. Proc Natl Acad Sci USA. 92:1995;4482-4486.
54. Saez E, No D, West A, Evans RM. Inducible gene expression in mammalian cells and transgenic mice. of outstanding interest Curr Opin Biotechnol. 8:1997;608-616 This is an excellent review describing the advantages and disadvantages of several mammalian inducible gene expression systems as well as their potential utilization in vitro and in vivo.
55. Dietrich WF, Lander ES, Smith JS, Moser AR, Gould KA, Luongo C, Borenstein N, Dove WF. Genetic identification of Mom-1, a major modifier locus affecting min-induced intestinal neoplasia in the mouse. Cell. 75:1993;631-639.
56. Min-induced intestinal neoplasia. Cell. 81:1995;957-966.
57. Min-mutant mice. This paper describes the recapitulation of this modification by transgenic expression of a Pla2s-containing cosmid on an otherwise sensitive genetic background, strongly supporting the candidacy of Pla2s as the modifier.