A novel SMAD4 gene mutation in seminoma germ cell tumors

Cancer Research

Volumn 60, Issue 4, 2000, Pages 922-928

  Bouras, Mourad ^a   Tabone, Eric ^b   Bertholon, Jacques ^a   Sommer, Pascal ^c   Bouvier, Raymonde ^a,d   Droz, Jean Pierre ^b   Benahmed, Mohamed ^a,e  

^a UNIVERSITÉ LYON 1   (France)

^b CENTRE LÉON BÉRARD   (France)

^c INSTITUT DE BIOLOGIE ET CHIMIE DES PROTÉINES   (France)

^d EDOUARD HERRIOT HOSPITAL   (France)

^e INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN; BONE MORPHOGENETIC PROTEIN; TRANSFORMING GROWTH FACTOR BETA1; TRANSFORMING GROWTH FACTOR BETA2;

ARTICLE; CONTROLLED STUDY; GENE EXPRESSION; GENE INACTIVATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GERM CELL TUMOR; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SEMINOMA; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA-BINDING PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEMINOMA; SMAD2 PROTEIN; SMAD4 PROTEIN; TRANS-ACTIVATORS; TRANSFORMING GROWTH FACTOR BETA;

EID: 0034652587     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (46)

1. Massagué, J. TGF-β signal transduction. Annu. Rev. Biochem., 67: 753-791, 1998.
2. Derynck, R., and Feng, X-H. TGF-β receptor signaling. Biochim. Biophys. Acta, 1333: F105-F150. 1997.
3. Wrana, J-L., Attisano, L., Wieser, R., Ventura, F., and Massagué, J. Mechanism of activation of the TGF-β receptor. Nature (Lond.), 370: 341-347, 1994.
4. 467 in the C-terminus of SMAD2 mediates interaction with SMAD4 and is required for transforming growth factor-β signaling. J. Biol. Chem., 272: 28107-28115, 1997.
5. Abdollah, S., Macias-Silva, M., Tsukazaki T. Hayashi, H., Attisano, L., and Wrana J. L. TβRI phosphorylation of SMAD2 on Sef465 and Ser467 is required for SMAD2-SMAD4 complex formation and signaling. J. Biol. Chem., 272: 27678-27685, 1997.
6. Hoodless, P. A., Haerry, T., Abdollah, S., Stapleton, M., O'Connor, M. B., Attisano, L., and Wrana, J. L. MADRI, a MAD-related protein that functions in BMP2 signaling pathways. Cell, 85: 489-500, 1996.
7. Liu, F., Hata. A., Baker, J. C., Doody, J., Carcamo, J., Harland, R. M., and Massagué, J. A human Mad protein acting as a BMP-regulated transcriptional activator. Nature (Lond.), 381: 620-623, 1996.
8. Zhou, S., Zawel, L., Lengauer, C., Kinzler, K. W., and Vogelstein, B. Characterization of human FAST-1, a TGF-β and activin signal transducer. Mol. Cell, 2: 121-127, 1998.
9. Labbe, E., Silvestri, C., Hoodless, P. A., Wrana, J. L., and Attisano, L. SMAD2 and SMAD3 positively and negatively regulate TGFβ-dependent transcription through the forkhead DNA-binding protein FAST-2. Mol. Cell, 2: 109-120, 1998.
10. Zawel, L., Dai, J. L., Buckhaults, P., Zhou, S., Kinzler, K. W., Vogelstein, B., and Kern, S. E. Human SMAD3 and SMAD4 are sequence specific transcription activators. Mol. Cell, 1: 611-617, 1998.
11. Dennler, S., Itoh, S., Vivien, D., ten Dijke, P., Huet, S., and Gauthier, J. M. Direct binding of SMAD3 and SMAD4 to critical TGFβ-inducible elements in the promoter of human plasminogen activator inhibitor-type 1 gene. EMBO J., 17: 3091-3100, 1998.
12. Jonk, L. J. C., Itoh, S., Heldin, C. H., ten Dijke, P., and Kruijer, W. Identification and functional characterization of a SMAD binding element (SBE) in the Jun B promoter that acts as a transforming growth factor-β, activin, and bone morphogenetic protein-inducible enhancer. J. Biol. Chem., 273: 21145-21152, 1998.
13. Meersseman, G., Verschueren, K., Nelles, L., Blumenstock, C. Kraft. H., Wuytens, G., Remacle, J., Kozak, C. A., Tylzanowski, P., Niehrs, C., and Huylebroeck, D. The C-terminal domain of Mad-like signal transducers is sufficient for biological activity in the Xenopus embryo and transcriptional activation. Mech Dev., 61: 127-140, 1997.
14. Lo, R. S., Chen, Y-G., Shi, Y., Pavletich, N. P., and Massagué, J. The L3 loop: a structural motif determining specific interactions between SMAD proteins and TGFβ receptors. EMBO J., 17: 996-1005, 1998.
15. Wu. R-Y., Zhang, Y., Feng, X-H., and Derynck, R. Heteromeric and homomeric interactions correlate with signaling activity and functional cooperativity of SMAD 3 and SMAD4/DPC4. Mol. Cell. Biol., 17: 2521-2528, 1997.
16. Zhang, Y , Musci, T., and Derynck, R. The tumor suppressor SMAD4/DPC4 as a central mediator of SMAD function. Curr. Biol., 7: 270-276, 1997.
17. Liu. F., Pouponnot, C., and Massagué, J. Dual role of the SMAD4/DPC4 tumor suppressor in TGFβ-inducible transcriptional complexes. Genes Dev., 11: 3157-3167, 1997.
18. Topper, J. N., Dichiara, M. R., Brown, J. D., Williams, A. J., Falb, D., Collins, T., and Gimbrone, M. A., Jr. CREB binding protein is a required coactivator for SMAD-Jependent, transforming growth factor β transcriptional responses in epithelial cells. Proc. Natl. Acad. Sci USA, 95: 9506-9511, 1998.
19. Nishihara, A., Hanai, J., Okamoto, N., Yanagisawa, J., Kato, S., Miyazono, K., and Kawabata, M. Role of p300, a transcriptional coactivator, in signalling of TGFβ. Genes Cells, J: 613-623, 1998.
20. Kretzschmar, M., and Massagué, J. SMADs: mediators and regulators of TGF-β signaling. Curr. Opin. Genet. Dev., 8: 103-111, 1998.
21. Song, C-Z., Siok, T. E., and Gelehrter, T. D. SMAD4/DPC4 and SMAD3 mediate transforming growth factor-β (TGF-β) signaling through direct binding to a novel TGF-β-responsive element in the human plasminogen activator inhibitor-1 promoter. J. Biol. Chem., 273: 29287-29290, 1998.
22. Hahn, S. A., Schutte, M., Hoque, A. T., Moskaluk, C. A., da Costa, L. T., Rozemblum, E., Weinstein, C. L., Fischer, A., Yeo, C. J., Hruban, R. H., and Kern, S. E. DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Science (Washington DC), 271: 350-353, 1996.
23. Thiagalingam, S., Lengauer, C., Leach, F. S., Schutte, M., Hahn, S. A., Overhauser, J., Wilson, J. K. V., Markowitz, S., Hamilton, S. R., Kern, S. E., Kinzler, K. W., and Vogelstein, B Evaluation of candidate tumor suppressor genes on chromosome 18 in colorectal cancers. Nat. Genet., 13: 343-346, 1996.
24. Sekelsky, J. J., Newfeld, S. J., Raftery, L. A., Chartoff, E. H., and Gelbart W. M. Genetic characterization and cloning of mothers against dpp. a gene required for decapentaplegic function in Drosophila melanogaster. Genetics, 139: 1347-1358, 1995.
25. Fynan, T. M., and Reiss, M. Resistance to inhibition of cell growth by transforming growth factor β and its role in oncogenesis. Crit Rev. Oncog., 4: 493-540, 1993.
26. Chomezynski, P., and Sacchi, N. Single-step method of RNA isolation by guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem., 162, 156-159, 1987.
27. Chen, T., Carter, D., Garringue-Antar, L., and Reiss, M. Transforming growth factor β type 1 receptor kinase mutant associated with metastatic breast cancer. Cancer Res., 58: 4805-4810, 1998.
28. Takenoshita, S., Tani, M., Nagashima, M., Hagiwara, K., Bennett, P. W., Yokota, J., and Harris, C. C. Mutation analysis of coding sequences of the entire transforming growth factor β type II receptor gene in sporadic human colon cancer using genomic DNA and intron primers. Oncogene, 14: 1255-1258, 1997.
29. Josso, N., and di Clemente, N. TGF-β family members and gonadal development. Trends Endocrinol. Melab., 10: 216-222, 1999.
30. Polyak, K. Negative regulation of cell growth by TGFβ. Biochim. Biophys. Acta, 1242: 185-199, 1996.
31. Atfi, A., Buisine, M., Mazars, A., and Gespach, C. Induction of apoptosis by SMAD4, a transcriptional factor regulated by transforming growth factor-β through stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) signaling pathway. J. Biol. Chem., 272: 24731-24734, 1997.
32. Savage, C., Das, P., Finelli, A. L., Townsend, S. R., Sun. C-Y., Baird, S. E., and Padgett, R. W. Caenorhabditis elegans genes Sma-2, Sma-3, and Sma-4 define a conserved family of transforming growth factor β pathway components. Proc. Natl. Acad. Sci. USA, 93: 790-794, 1996.
33. Shi, Y., Hata, A., Lo, R. S., Massagué. J., and Pavletich, N. P. A structural basis for mutational inactivation of the tumor suppressor SMAD4. Nature (Lond.), 388: 87-93, 1997.
34. Uchida, K., Nagatake, M., Osada, H., Yatabe, Y., Kondo, M., Mitsudomi, T., Masuda, A., Takahashi, T., and Takahashi, T. Somatic in vivo alterations of the JV18-1 gene at 18q21 in human lung cancers. Cancer Res., 56: 5583-5585, 1996.
35. Satoshi, T., Aikou, O., Misato, S., Takaomi, Y., Hideo, S., Seiji, I., Tomoaki, Y., Yasuyuki, O., Kazunori, O., and Tadao, T. Allelic imbalance in chromosome band 18q21 and SMAD4 mutations in ovarian cancers. Genes Chromosomes Cancer, 24: 254-271, 1999.
36. MacGrogan, D., Pegram, M., Slamon, D., and Bookstein, R. Comparative mutational analysis of DPC4 (SMAD4) in prostatic and colorectal carcinoma. Oncogene, 15: 1111-1114, 1997.
37. Schutte, M., Hruban, R. H., Hedrick, L., Cho, K. R., Nadasdy, G. M., Weinstein, C. L., Bosa, G. S., Isaacs, W. B., Caims, P., Nawroz, H., Sidransky, D., Casero, R. A., Jr., Meltzer, P. S., Hahn, S. A., and Kern, S. E. DPC4 gene in various tumor types. Cancer Res., 56: 2527-2530, 1996.
38. Kim, S. K., Fan, Y., Papadimitrakopoulo, V., Clayman, G., Hittelman, W. N., Hong, W. K., Lotan, R., and Mao, L. DPC4, a candidate tumor suppressor gene is altered infrequently in head and neck squamous cell carcinoma. Cancer Res., 56: 2519-2521, 1996.
39. Lei, J. Y., Zou, T. T., Shi, Y. Q., Zhou, X. L., Smolinski, K. N., Yin, J., Souza, R., Appel, R., Wang, S., Cynes, K., Chan, O., Abraham, J. M., and Meltzer S. J. Infrequent DPC4 gene mutation in esophageal cancer, gastric cancer, and ulcerative colitis-associated neoplasms. Oncogene, 13: 2459-2462, 1996.
40. Takaku, K., Oshima, M., Miyoshi, H., Matsui, M., Seldin, M. F., and Taketo, M. M. Intestinal tumorigenesis in compound mutant mice of both DPC4 (SMAD4) and Apc genes. Cell, 92: 645-656, 1998.
41. Vincent, F., Hagiwara, K., Ke, Y., Stoner, G. D., Demetrick, D. J., and Benett, W. P. Mutation analyses of the transforming growth factor-β type II receptor in sporadic human cancers of the pancreas, liver, and breast. Biochem. Biophys. Res. Commun., 223: 561-564, 1996.
42. Riggins, G. J., Thiagalingam, S., Rozenblum, E., Weinstein, C. L., Kern, S. E., Hamilton, S. R., Willson, J. K., Markowitz, S. D., Kinzler, K. W., and Vogelstein, B. Mad related genes in the human. Nat. Genet., 13: 347-349, 1996.
43. Ikezoe, T., Takeuchi, S., Kamioka, M., Daibata, M., Kubonishi, I., Taguchi, H., and Miyoshi, I. Analysis of the SMAD2 gene in haematological malignancies. Leukemia, 12: 94-95, 1998.
44. Waldrip, W. R., Bikoff, E. K., Hoodless, P. A., Wrana, J. L., and Robertson, R. J. SMAD2 signaling in extraembryonic tissues determines anterior-posterior polarity of the early mouse embryo. Cell, 92: 797-808, 1998.
45. Parrington, J. M., West, L. F., and Heyderman, E. Chromosome analysis of parallel short-term cultures from four testicular germ-cell tumors. Cancer Genet. Cytogenet., 75: 90-102, 1994.
46. Ottesen, A. M., Kirchhoff, M., De-Meyts, E. R., Maahr, J., Gerdes, T., Rose, H., Lundsteen, C., Petersen, P. M., Philip, J., and Skakkebaek, N. E. Detection of chromosomal aberrations in seminomatous germ cell tumors using comparative genomic hybridization. Genes Chromosomes Cancer, 20: 412-418, 1997.