A model for PTCH1/Ptch1 -associated tumors comprising mutational inactivation and gene silencing

International Journal of Oncology

Volumn 27, Issue 6, 2005, Pages 1567-1575

  Uhmann, Anja ^a   Ferch, Uta ^a   Bauer, Regine ^a   Tauber, Svantje ^a   Arziman, Zeynep ^a   Chen, Claudia ^b   Hemmerlein, Bernhard ^a   Wojnowski, Leszek ^c   Hahn, Heidi ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Epigenetic silencing; Patched; Rhabdomyosarcoma

Indexed keywords

CELL SURFACE RECEPTOR; GLI PROTEIN; ISOPROTEIN; MEMBRANE PROTEIN; ONCOPROTEIN; PATCHED RECEPTORS; SIGNAL PEPTIDE; TRANSACTIVATOR PROTEIN; TRANSCRIPTION FACTOR;

ALLELE; ALTERNATIVE RNA SPLICING; ANIMAL; ARTICLE; BIOLOGICAL MODEL; CELL LINE; CELL STRAIN 3T3; COMPARATIVE STUDY; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION PROFILING; GENE SILENCING; GENETICS; GENOTYPE; IMMUNOHISTOCHEMISTRY; METABOLISM; MOUSE; MOUSE MUTANT; MUTATION; PATHOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RHABDOMYOSARCOMA;

ALLELES; ALTERNATIVE SPLICING; ANIMALS; CELL LINE, TRANSFORMED; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION PROFILING; GENE SILENCING; GENOTYPE; IMMUNOHISTOCHEMISTRY; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MICE; MICE, KNOCKOUT; MODELS, GENETIC; MUTATION; NIH 3T3 CELLS; ONCOGENE PROTEINS; PROTEIN ISOFORMS; RECEPTORS, CELL SURFACE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RHABDOMYOSARCOMA; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS;

EID: 33644818586     PISSN: 10196439     EISSN: 17912423     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Momparler RL: Cancer epigenetics. Oncogene 22: 6479-6483, 2003.
2. Jones PA and Baylin SB: The fundamental role of epigenetic events in cancer. Nat Rev Genet 3: 415-428, 2002.
3. Wijermans P, Lubbert M, Verhoef G, Bosly A, Ravoet C, et al: Low-dose 5-aza-2′-deoxycytidine, a DNA hypomethylating agent, for the treatment of high-risk myelodysplastic syndrome: a multicenter phase II study in elderly patients. J Clin Oncol 18: 956-962,2000.
4. Herman JG and Baylin SB: Gene silencing in cancer in association with promoter hypermethylation. N Engl J Med 349: 2042-2054, 2003.
5. Wetmore C: Sonic hedgehog in normal and neoplastic proliferation: insight gained from human tumors and animal models. Curr Opin Genet Dev 13: 34-42,2003.
6. Reifenberger J, Wolter M, Knobbe CB, Kohler B, Schonicke A, et al. Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas. Br J Dermatol 152:43-51,2005.
7. Hahn H, Wojnowski L, Zimmer AM, Hall J, Miller G and Zimmer A: Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome. Nat Med 4: 619-622, 1998.
8. Calzada-Wack J, Kappler R, Schnitzbauer U, Richter T, Nathrath M, et al. Unbalanced over-expression of the mutant allele in murine Patched mutants. Carcinogenesis 23: 727-734., 2002.
9. Chen CA and Okayama H: Calcium phosphate-mediated gene transfer: a highly efficient transfection system for stably transforming cells with plasmid DNA. Biotechniques 6: 632-638, 1988.
10. Kogerman P, Krause D, Rahnama F, Kogerman L, Unden AB, et al Alternative first exons of PTCH 1 are differentially regulated in vivo and may confer different functions to the PTCH] protein. Oncogene 21: 6007-6016, 2002.
11. Nagao K, Toyoda M, Takeuchi-Inoue K, Fujii K, Yamada M and Miyashita T: Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons. Genomics 85: 462-471,2005.
12. Beer C, Buhr P, Hahn H, Laubner D and Wirth M: Gene expression analysis of murine cells producing amphotropic mouse leukaemia virus at a cultivation temperature of 32 and 37 degrees C. J Gen Virol 84: 1677-1686, 2003.
13. Bailey EC, Milenkovic L, Scott MP, Collawn JF and Johnson RL: Several PATCHED 1 missense mutations display activity in patchedl-deficient fibroblasts. J Biol Chem 277: 33632-33640, 2002.
14. Bailey EC, Zhou L and Johnson RL: Several human PATCHED1 mutations block protein maturation. Cancer Res 63: 1636-1638, 2003.
15. Goodrich LV, Milenkovic L, Higgins KM and Scott MP: Altered neural cell fates and medulloblastoma in mouse patched mutants. Science 277: 1109-1113, 1997.
16. Zurawel RH, Allen C, Wechsler-Reya R, Scott MP and Raffel C: Evidence that haploinsufficiency of Ptch leads to medulloblastoma in mice. Genes Chromosomes Cancer 28: 77-81, 2000.
17. Vorechovsky I, Tingby O, Hartman M, Strömberg B, Nister M, et al. Somatic mutations in the human homologue of Drosophila patched in primitive neuroectodermal tumours. Oncogene 15: 361-366, 1997.
18. Gailani MR, Stahle-Backdahl M, Leffell DJ, Glynn M, Zaphiropoulos PG, et al: The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nat Genet 14: 78-81,1996.
19. Berman DM, Karhadkar SS, Hallahan AR, Pritchard JI, Eberhart CG, et al: Medulloblastoma growth inhibition by hedgehog pathway blockade. Science 297: 1559-1561,2002.
20. Shimokawa T, Rahnama F and Zaphiropoulos PG: A novel first exon of the Patched 1 gene is upregulated by Hedgehog signaling resulting in a protein with pathway inhibitory functions. FEBS Lett 578: 157-162, 2004.
21. Agren M, Kogerman P, Kleman MI, Wessling M and Toftgard R: Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site. Gene 330: 101-114,2004.
22. Issa JP, Garcia-Manero G, Giles FJ, Mannari R, Thomas D, et al Phase 1 study of low-dose prolonged exposure schedules of the hypomethylating agent 5-aza-2′-deoxycytidine (decitabine) in hematopoietic malignancies. Blood 103: 1635-1640,2004.