Dystrophin and dysferlin double mutant mice: A novel model for rhabdomyosarcoma

Cancer Genetics

Volumn 205, Issue 5, 2012, Pages 232-241

  Hosur, Vishnu ^a   Kavirayani, Anoop ^a   Riefler, Jennifer ^a   Carney, Lisa M B ^a   Lyons, Bonnie ^a   Gott, Bruce ^a   Cox, Gregory A ^a   Shultz, Leonard D ^a  

^a JACKSON LABORATORY   (United States)

Author keywords

Cytogenetics; Dysferlin; Dystrophin; Muscular dystrophy; Rhabdomyosarcoma

Indexed keywords

ANTIBODY; CELL PROTEIN; DYSFERLIN; DYSTROPHIN; DYSF PROTEIN, MOUSE; MEMBRANE PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CANCER INCIDENCE; CANCER MODEL; CYTOGENETICS; DISEASE ASSOCIATION; DISEASE EXACERBATION; DYSTROPHIN AND DYSFERLIN DOUBLE MUTANT MOUSE; ELECTRON MICROSCOPY; EXPERIMENTAL MOUSE; GENE DELETION; HISTOPATHOLOGY; IMMUNOHISTOCHEMISTRY; MOUSE; MOUSE STRAIN; MUSCULAR DYSTROPHY; NONHUMAN; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RHABDOMYOSARCOMA; SARCOMA; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR GENE; ANIMAL; ANIMAL MUSCULAR DYSTROPHY; C57BL MOUSE; CELL CULTURE; DISEASE MODEL; FEMALE; GENETIC MARKER; GENETICS; MALE; METABOLISM; MUTATION; PATHOLOGY; SKELETAL MUSCLE; SPECTRAL KARYOTYPING;

MUS;

ANIMALS; CELLS, CULTURED; DISEASE MODELS, ANIMAL; DYSTROPHIN; FEMALE; GENETIC MARKERS; MALE; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, ANIMAL; MUTATION; RHABDOMYOSARCOMA; SPECTRAL KARYOTYPING;

EID: 84865357824     PISSN: 22107762     EISSN: 22107770     Source Type: Journal    
DOI: 10.1016/j.cancergen.2012.03.005     Document Type: Article

References (49)

1. Kramer R.F., Moore I.M. Childhood cancer: meeting the special needs of healthy siblings. Cancer Nurs 1983, 6:213-217.
2. Furlong M.A., Fanburg-Smith J.C. Pleomorphic rhabdomyosarcoma in children: four cases in the pediatric age group. Ann Diagn Pathol 2001, 5:199-206.
3. Horn R.C., Enterline H.T. Rhabdomyosarcoma: a clinicopathological study and classification of 39 cases. Cancer 1958, 11:181-199.
4. Keller C., Arenkiel B.R., Coffin C.M., El-Bardeesy N., DePinho R.A., Capecchi M.R. Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function. Genes Dev 2004, 18:2614-2626.
5. Tsokos M., Webber B.L., Parham D.M., et al. Rhabdomyosarcoma. A new classification scheme related to prognosis. Arch Pathol Lab Med 1992, 116:847-855.
6. Parham D.M., Ellison D.A. Rhabdomyosarcomas in adults and children: an update. Arch Pathol Lab Med 2006, 130:1454-1465.
7. Fernandez K., Serinagaoglu Y., Hammond S., Martin L.T., Martin P.T. Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts. Am J Pathol 2010, 176:416-434.
8. Furlong M.A., Mentzel T., Fanburg-Smith J.C. Pleomorphic rhabdomyosarcoma in adults: a clinicopathologic study of 38 cases with emphasis on morphologic variants and recent skeletal muscle-specific markers. Mod Pathol 2001, 14:595-603.
9. Grufferman S., Ruymann F., Ognjanovic S., Erhardt E.B., Maurer H.M. Prenatal X-ray exposure and rhabdomyosarcoma in children: a report from the children's oncology group. Cancer Epidemiol Biomarkers Prev 2009, 18:1271-1276.
10. Felix C.A., Kappel C.C., Mitsudomi T., et al. Frequency and diversity of p53 mutations in childhood rhabdomyosarcoma. Cancer Res 1992, 52:2243-2247.
11. Langenau D.M., Keefe M.D., Storer N.Y., et al. Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes Dev 2007, 21:1382-1395.
12. Iolascon A., Faienza M.F., Coppola B., et al. Analysis of cyclin-dependent kinase inhibitor genes (CDKN2A, CDKN2B, and CDKN2C) in childhood rhabdomyosarcoma. Genes Chromosomes Cancer 1996, 15:217-222.
13. Schmidt W.M., Uddin M.H., Dysek S., et al. DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies. PLoS Genet 2011, 7:e1002042.
14. Sher R.B., Cox G.A., Mills K.D., Sundberg J.P. Rhabdomyosarcomas in aging A/J mice. PLoS One 2011, 6:e23498.
15. Ho M., Post C.M., Donahue L.R., et al. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet 2004, 13:1999-2010.
16. Im W.B., Phelps S.F., Copen E.H., Adams E.G., Slightom J.L., Chamberlain J.S. Differential expression of dystrophin isoforms in strains of mdx mice with different mutations. Hum Mol Genet 1996, 5:1149-1153.
17. Chase T.H., Cox G.A., Burzenski L., Foreman O., Shultz L.D. Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2B. Am J Pathol 2009, 175:2299-2308.
18. Woo Y., Wright S.M., Maas S.A., et al. The nonhomologous end joining factor Artemis suppresses multi-tissue tumor formation and prevents loss of heterozygosity. Oncogene 2007, 26:6010-6020.
19. Bulfield G., Siller W.G., Wight P.A., Moore K.J. X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci U S A 1984, 81:1189-1192.
20. Tapscott S.J., Davis R.L., Thayer M.J., Cheng P.F., Weintraub H., Lassar A.B. MyoD1: a nuclear phosphoprotein requiring a Myc homology region to convert fibroblasts to myoblasts. Science 1988, 242:405-411.
21. Wright W.E., Sassoon D.A., Lin V.K. Myogenin, a factor regulating myogenesis, has a domain homologous to MyoD. Cell 1989, 56:607-617.
22. Wang Y., Jaenisch R. Myogenin can substitute for Myf5 in promoting myogenesis but less efficiently. Development 1997, 124:2507-2513.
23. Keller C., Hansen M.S., Coffin C.M., Capecchi M.R. Pax3:Fkhr interferes with embryonic Pax3 and Pax7 function: implications for alveolar rhabdomyosarcoma cell of origin. Genes Dev 2004, 18:2608-2613.
24. Lae M., Ahn E.H., Mercado G.E., et al. Global gene expression profiling of PAX-FKHR fusion-positive alveolar and PAX-FKHR fusion-negative embryonal rhabdomyosarcomas. J Pathol 2007, 212:143-151.
25. Kullendorff C.M., Donner M., Mertens F., Mandahl N. Chromosomal aberrations in a consecutive series of childhood rhabdomyosarcoma. Med Pediatr Oncol 1998, 30:156-159.
26. Kikuchi K., Rubin B.P., Keller C. Developmental origins of fusion-negative rhabdomyosarcomas. Curr Top Dev Biol 2011, 96:33-56.
27. Anderson J., Gordon A., McManus A., Shipley J., Pritchard-Jones K. Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma. Neoplasia 1999, 1:340-348.
28. Relaix F., Rocancourt D., Mansouri A., Buckingham M. A Pax3/Pax7-dependent population of skeletal muscle progenitor cells. Nature 2005, 435:948-953.
29. Worl J., Breuer C., Neuhuber W.L. Deletion of Pax7 changes the tunica muscularis of the mouse esophagus from an entirely striated into a mixed phenotype. Dev Dyn 2009, 238:864-874.
30. Tiffin N., Williams R.D., Shipley J., Pritchard-Jones K. PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells. Br J Cancer 2003, 89:327-332.
31. Goldstein M., Meller I., Issakov J., Orr-Urtreger A. Novel genes implicated in embryonal, alveolar, and pleomorphic rhabdomyosarcoma: a cytogenetic and molecular analysis of primary tumors. Neoplasia 2006, 8:332-343.
32. Wallace G.Q., McNally E.M. Mechanisms of muscle degeneration, regeneration, and repair in the muscular dystrophies. Annu Rev Physiol 2009, 71:37-57.
33. Huang Y., de Morree A., van Remoortere A., et al. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet 2008, 17:1855-1866.
34. Bansal D., Campbell K.P. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol 2004, 14:206-213.
35. Bansal D., Miyake K., Vogel S.S., et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003, 423:168-172.
36. Chamberlain J.S., Metzger J., Reyes M., Townsend D., Faulkner J.A. Dystrophin-deficient mdx mice display a reduced life span and are susceptible to spontaneous rhabdomyosarcoma. FASEB J 2007, 21:2195-2204.
37. Davis J.A., Miller G.F., St.Claire M.F. Spontaneous rhabdomyosarcomas in (A/J x CBA/J)Fl mice. Contemp Top Lab Anim Sci 1997, 36:87-89.
38. Landau J.M., Wang Z.Y., Yang G.Y., Ding W., Yang C.S. Inhibition of spontaneous formation of lung tumors and rhabdomyosarcomas in A/J mice by black and green tea. Carcinogenesis 1998, 19:501-507.
39. Florea A.M., Busselberg D. Anti-cancer drugs interfere with intracellular calcium signaling. Neurotoxicology 2009, 30:803-810.
40. Sergeev I.N. Calcium signaling in cancer and vitamin D. J Steroid Biochem Mol Biol 2005, 97:145-151.
41. Allen D.G., Gervasio O.L., Yeung E.W., Whitehead N.P. Calcium and the damage pathways in muscular dystrophy. Can J Physiol Pharmacol 2010, 88:83-91.
42. Glover L., Brown R.H. Dysferlin in membrane trafficking and patch repair. Traffic 2007, 8:785-794.
43. Kawasaki H., Takayama J., Nagasaki K., Yamaguchi K., Ohira M. Hypercalcemia in children with rhabdomyosarcoma. J Pediatr Hematol Oncol 1998, 20:327-329.
44. Hack A.A., Ly C.T., Jiang F., et al. Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin. J Cell Biol 1998, 142:1279-1287.
45. Spencer M.J., Walsh C.M., Dorshkind K.A., Rodriguez E.M., Tidball J.G. Myonuclear apoptosis in dystrophic mdx muscle occurs by perforin-mediated cytotoxicity. J Clin Invest 1997, 99:2745-2751.
46. De Luna N., Gallardo E., Illa I. In vivo and in vitro dysferlin expression in human muscle satellite cells. J Neuropathol Exp Neurol 2004, 63:1104-1113.
47. Fleischmann A., Jochum W., Eferl R., Witowsky J., Wagner E.F. Rhabdomyosarcoma development in mice lacking Trp53 and Fos: tumor suppression by the Fos protooncogene. Cancer Cell 2003, 4:477-482.
48. Hettmer S., Wagers A.J. Muscling in: uncovering the origins of rhabdomyosarcoma. Nat Med 2010, 16:171-173.
49. Rubin B.P., Nishijo K., Chen H.I., et al. Evidence for an unanticipated relationship between undifferentiated pleomorphic sarcoma and embryonal rhabdomyosarcoma. Cancer Cell 2011, 19:177-191.