Genetic modeling of Li-Fraumeni syndrome in zebrafish

DMM Disease Models and Mechanisms

Volumn 3, Issue 1-2, 2010, Pages 45-56

  Parant, John M ^a   George, Stephen A ^a   Holden, Joseph A ^a   Yost, H Joseph ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; CYCLIN G1; CYTOSINE; ETHYLNITROSOUREA; GENOMIC DNA; MESSENGER RNA; MUTANT PROTEIN; P21 ACTIVATED KINASE; PROTEIN BAX; PROTEIN MDM2; PROTEIN NOXA; PROTEIN P53; PUMA PROTEIN; THYMINE;

ALLELE; AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BAX GENE; CANCER INCIDENCE; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CHEMICAL CARCINOGENESIS; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; CYCLIN G GENE; DNA DAMAGE; EMBRYO; FAMILIAL CANCER; GENE; GENE EXPRESSION; GENE INDUCTION; GENETIC CONSERVATION; GENETIC MODEL; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; IONIZING RADIATION; LOSS OF FUNCTION MUTATION; MALE; MDM 2 GENE; NONHUMAN; NORTHERN BLOTTING; NOXA GENE; P21 GENE; P53 GENE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN STABILITY; PUMA GENE; RADIATION CARCINOGENESIS; REAL TIME POLYMERASE CHAIN REACTION; SARCOMA; TUMOR SUPPRESSOR GENE; ZEBRA FISH;

ALLELES; ANIMALS; APOPTOSIS; DISEASE MODELS, ANIMAL; DNA DAMAGE; GENE KNOCKDOWN TECHNIQUES; GENES, DOMINANT; GENETIC TESTING; HETEROZYGOTE; LI-FRAUMENI SYNDROME; LOSS OF HETEROZYGOSITY; MODELS, GENETIC; MUTATION; NEOPLASMS; PROTEIN STABILITY; PROTO-ONCOGENE PROTEINS C-MDM2; RADIATION, IONIZING; SIGNAL TRANSDUCTION; TRANSCRIPTIONAL ACTIVATION; TUMOR SUPPRESSOR PROTEIN P53; ZEBRAFISH;

DANIO RERIO; VERTEBRATA;

EID: 77649208553     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.003749     Document Type: Article

References (53)

1. Amsterdam, A., Sadler, K. C., Lai, K., Farrington, S., Bronson, R. T., Lees, J. A. and Hopkins, N. (2004). Many ribosomal protein genes are cancer genes in zebrafish. PLoS Biol. 2, E139.
2. Aurelio, O. N., Kong, X. T., Gupta, S. and Stanbridge, E. J. (2000). p53 mutants have selective dominant-negative effects on apoptosis but not growth arrest in human cancer cell lines. Mol. Cell. Biol. 20, 770-778.
3. Bachinski, L. L., Olufemi, S. E., Zhou, X., Wu, C. C., Yip, L., Shete, S., Lozano, G., Amos, C. I., Strong, L. C. and Krahe, R. (2005). Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. Cancer Res. 65, 427-431.
4. Bell, D. W., Varley, J. M., Szydlo, T. E., Kang, D. H., Wahrer, D. C., Shannon, K. E., Lubratovich, M., Verselis, S. J., Isselbacher, K. J., Fraumeni, J. F. et al. (1999). Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286, 2528-2531.
5. Berghmans, S., Murphey, R. D., Wienholds, E., Neuberg, D., Kutok, J. L., Fletcher, C. D., Morris, J. P., Liu, T. X., Schulte-Merker, S., Kanki, J. P. et al. (2005). tp53 mutant zebrafish develop malignant peripheral nerve sheath tumors. Proc. Natl. Acad. Sci. USA 102, 407-412.
6. Birch, J. M., Hartley, A. L., Tricker, K. J., Prosser, J., Condie, A., Kelsey, A. M., Harris, M., Jones, P. H., Binchy, A., Crowther, D. et al. (1994). Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res. 54, 1298-1304.
7. Birch, J. M., Blair, V., Kelsey, A. M., Evans, D. G., Harris, M., Tricker, K. J. and Varley, J. M. (1998). Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene 17, 1061-1068.
8. Brodsky, M. H., Nordstrom, W., Tsang, G., Kwan, E., Rubin, G. M. and Abrams, J. M. (2000). Drosophila p53 binds a damage response element at the reaper locus. Cell 101, 103-113.
9. Cadwell, C. and Zambetti, G. P. (2001). The effects of wild-type p53 tumor suppressor activity and mutant p53 gain-of-function on cell growth. Gene 277, 15-30.
10. Chavez-Reyes, A., Parant, J. M., Amelse, L. L., de Oca Luna, R. M., Korsmeyer, S. J. and Lozano, G. (2003). Switching mechanisms of cell death in mdm2- and mdm4-null mice by deletion of p53 downstream targets. Cancer Res. 63, 8664-8669.
11. Chompret, A., Brugieres, L., Ronsin, M., Gardes, M., Dessarps-Freichey, F., Abel, A., Hua, D., Ligot, L., Dondon, M. G., Bressac-de Paillerets, B. et al. (2000). P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br. J. Cancer 82, 1932-1937.
12. Clarke, A. R., Purdie, C. A., Harrison, D. J., Morris, R. G., Bird, C. C., Hooper, M. L. and Wyllie, A. H. (1993). Thymocyte apoptosis induced by p53-dependent and independent pathways. Nature 362, 849-852.
13. Deffie, A., Wu, H., Reinke, V. and Lozano, G. (1993). The tumor suppressor p53 regulates its own transcription. Mol. Cell. Biol. 13, 3415-3423.
14. Derry, W. B., Putzke, A. P. and Rothman, J. H. (2001). Caenorhabditis elegans p53: role in apoptosis, meiosis, and stress resistance. Science 294, 591-595.
15. Dittmer, D., Pati, S., Zambetti, G., Chu, S., Teresky, A. K., Moore, M., Finlay, C. and Levine, A. J. (1993). Gain of function mutations in p53. Nat. Genet. 4, 42-46.
16. Donehower, L. A., Harvey, M., Slagle, B. L., McArthur, M. J., Montgomery, C. A., Jr, Butel, J. S. and Bradley, A. (1992). Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature 356, 215-221.
17. Evans, D. G., Birch, J. M. and Narod, S. A. (2008). Is CHEK2 a cause of the Li-Fraumeni syndrome? J. Med. Genet. 45, 63-64.
18. Feitsma, H. and Cuppen, E. (2008). Zebrafish as a cancer model. Mol. Cancer Res. 6, 685-694.
19. Field, M., Shanley, S. and Kirk, J. (2007). Inherited cancer susceptibility syndromes in paediatric practice. J. Paediatr. Child Health 43, 219-229.
20. Frebourg, T., Barbier, N., Yan, Y. X., Garber, J. E., Dreyfus, M., Fraumeni, J., Jr, Li, F. P. and Friend, S. H. (1995). Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. Am. J. Hum. Genet. 56, 608-615.
21. Ganjavi, H. and Malkin, D. (2002). Genetics of childhood cancer. Clin. Orthop. Relat. Res. 401, 75-87.
22. Goessling, W., North, T. E. and Zon, L. I. (2007). New waves of discovery: modeling cancer in zebrafish. J. Clin. Oncol. 25, 2473-2479.
23. Haramis, A. P., Hurlstone, A., van der Velden, Y., Begthel, H., van den Born, M., Offerhaus, G. J. and Clevers, H. C. (2006). Adenomatous polyposis coli-deficient zebrafish are susceptible to digestive tract neoplasia. EMBO Rep. 7, 444-449.
24. Iwakuma, T. and Lozano, G. (2003). MDM2, an introduction. Mol. Cancer Res. 1, 993-1000.
25. Iwakuma, T., Parant, J. M., Fasulo, M., Zwart, E., Jacks, T., de Vries, A. and Lozano, G. (2004). Mutation at p53 serine 389 does not rescue the embryonic lethality in mdm2 or mdm4 null mice. Oncogene 23, 7644-7650.
26. Jacks, T., Remington, L., Williams, B. O., Schmitt, E. M., Halachmi, S., Bronson, R. T. and Weinberg, R. A. (1994). Tumor spectrum analysis in p53-mutant mice. Curr. Biol. 4, 1-7.
27. Jones, S. N., Roe, A. E., Donehower, L. A. and Bradley, A. (1995). Rescue of embryonic lethality in Mdm2-deficient mice by absence of p53. Nature 378, 206-208.
28. Kleihues, P., Schauble, B., zur Hausen, A., Esteve, J. and Ohgaki, H. (1997). Tumors associated with p53 germline mutations: a synopsis of 91 families. Am. J. Pathol. 150, 1-13.
29. Kuperwasser, C., Hurlbut, G. D., Kittrell, F. S., Dickinson, E. S., Laucirica, R., Medina, D., Naber, S. P. and Jerry, D. J. (2000). Development of spontaneous mammary tumors in BALB/c p53 heterozygous mice. A model for Li-Fraumeni syndrome. Am. J. Pathol. 157, 2151-2159.
30. Lang, G. A., Iwakuma, T., Suh, Y. A., Liu, G., Rao, V. A., Parant, J. M., Valentin-Vega, Y. A., Terzian, T., Caldwell, L. C., Strong, L. C. et al. (2004). Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. Cell 119, 861-872.
31. Langenau, D. M., Ferrando, A. A., Traver, D., Kutok, J. L., Hezel, J. P., Kanki, J. P., Zon, L. I., Look, A. T. and Trede, N. S. (2004). In vivo tracking of T cell development, ablation, and engraftment in transgenic zebrafish. Proc. Natl. Acad. Sci. USA 101, 7369-7374.
32. Lee, K. C., Goh, W. L., Xu, M., Kua, N., Lunny, D., Wong, J. S., Coomber, D., Vojtesek, B., Lane, E. B. and Lane, D. P. (2008). Detection of the p53 response in zebrafish embryos using new monoclonal antibodies. Oncogene 27, 629-640.
33. Lee, Y., Chong, M. J. and Mckinnon, P. J. (2001). Ataxia telangiectasia mutateddependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status. J. Neurosci. 21, 6687-6693.
34. Li, F. P. and Fraumeni, J. F., Jr (1969). Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J. Natl. Cancer Inst. 43, 1365-1373.
35. Liu, G., Terzian, T., Xiong, S., Van Pelt, C. S., Audiffred, A., Box, N. F. and Lozano, G. (2007). The p53-Mdm2 network in progenitor cell expansion during mouse postnatal development. J. Pathol. 213, 360-368.
36. Lu, W. J. and Abrams, J. M. (2006). Lessons from p53 in non-mammalian models. Cell Death Differ. 13, 909-912.
37. MacGeoch, C., Turner, G., Bobrow, L. G., Barnes, D. M., Bishop, D. T. and Spurr, N. K. (1995). Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. J. Med. Genet. 32, 186-190.
38. Milner, J. and Medcalf, E. A. (1991). Cotranslation of activated mutant p53 with wild type drives the wild-type p53 protein into the mutant conformation. Cell 65, 765-774.
39. Montes de Oca Luna, R., Wagner, D. S. and Lozano, G. (1995). Rescue of early embryonic lethality in mdm2-deficient mice by deletion of p53. Nature 378, 203-206.
40. Mullins, M. C., Hammerschmidt, M., Haffter, P. and Nusslein-Volhard, C. (1994). Large-scale mutagenesis in the zebrafish: in search of genes controlling development in a vertebrate. Curr. Biol. 4, 189-202.
41. Olive, K. P., Tuveson, D. A., Ruhe, Z. C., Yin, B., Willis, N. A., Bronson, R. T., Crowley, D. and Jacks, T. (2004). Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. Cell 119, 847-860.
42. Ollmann, M., Young, L. M., Di Como, C. J., Karim, F., Belvin, M., Robertson, S., Whittaker, K., Demsky, M., Fisher, W. W., Buchman, A. et al. (2000). Drosophila p53 is a structural and functional homolog of the tumor suppressor p53. Cell 101, 91-101.
43. Parant, J. M., George, S. A., Pryor, R., Wittwer, C. T. and Yost, H. J. (2009). A rapid and efficient method of genotyping zebrafish mutants. Dev. Dyn. 238, 3168-3174.
44. Rupp, R. A., Snider, L. and Weintraub, H. (1994). Xenopus embryos regulate the nuclear localization of XMyoD. Genes Dev. 8, 1311-1323.
45. Schumacher, B., Hofmann, K., Boulton, S. and Gartner, A. (2001). The C. elegans homolog of the p53 tumor suppressor is required for DNA damage-induced apoptosis. Curr. Biol. 11, 1722-1727.
46. Sigal, A. and Rotter, V. (2000). Oncogenic mutations of the p53 tumor suppressor: the demons of the guardian of the genome. Cancer Res. 60, 6788-6793.
47. Streisinger, G., Walker, C., Dower, N., Knauber, D. and Singer, F. (1981). Production of clones of homozygous diploid zebra fish (Brachydanio rerio). Nature 291, 293-296.
48. Takai, H., Naka, K., Okada, Y., Watanabe, M., Harada, N., Saito, S., Anderson, C. W., Appella, E., Nakanishi, M., Suzuki, H. et al. (2002). Chk2-deficient mice exhibit radioresistance and defective p53-mediated transcription. EMBO J. 21, 5195-5205.
49. Terzian, T., Suh, Y. A., Iwakuma, T., Post, S. M., Neumann, M., Lang, G. A., Van Pelt, C. S. and Lozano, G. (2008). The inherent instability of mutant p53 is alleviated by Mdm2 or p16INK4a loss. Genes Dev. 22, 1337-1344.
50. Toledo, F., Krummel, K. A., Lee, C. J., Liu, C. W., Rodewald, L. W., Tang, M. and Wahl, G. M. (2006). A mouse p53 mutant lacking the proline-rich domain rescues Mdm4 deficiency and provides insight into the Mdm2-Mdm4-p53 regulatory network. Cancer Cell 9, 273-285.
51. Turner, D. L. and Weintraub, H. (1994). Expression of achaete-scute homolog 3 in Xenopus embryos converts ectodermal cells to a neural fate. Genes Dev. 8, 1434-1447.
52. Varley, J. M. (2003). Germline TP53 mutations and Li-Fraumeni syndrome. Hum. Mutat. 21, 313-320.
53. Westerfield, M. (1995). The Zebrafish Book. Eugene, OR: University of Oregon Press.