Mutational analysis of TGF-β type II receptor, Smad2, Smad3, Smad4, Smad6 and Smad7 genes in colorectal cancer

Journal of Experimental and Clinical Cancer Research

Volumn 22, Issue 2, 2003, Pages 315-320

  Fukushima, Toshihiko ^a   Mashiko, M ^a   Takita, K ^a   Otake, T ^a   Endo, Y ^a   Sekikawa, K ^a   Takenoshita, S ^a  

^a FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

Author keywords

Colorectal cancer; Smad; TGF

Indexed keywords

SMAD2 PROTEIN; SMAD3 PROTEIN; SMAD4 PROTEIN; SMAD6 PROTEIN; SMAD7 PROTEIN; TRANSFORMING GROWTH FACTOR BETA2; UNCLASSIFIED DRUG;

ARTICLE; CARCINOGENESIS; CELL PROLIFERATION; COLORECTAL CANCER; DNA EXTRACTION; EMBRYO DEVELOPMENT; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE LOCATION; GENETIC CODE; HOMEOSTASIS; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; SIGNAL TRANSDUCTION;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 18; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FRAMESHIFT MUTATION; HUMANS; LOSS OF HETEROZYGOSITY; MOLECULAR SEQUENCE DATA; MUTATION; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SEQUENCE ANALYSIS, DNA; SIGNAL TRANSDUCTION; SMAD2 PROTEIN; SMAD3 PROTEIN; SMAD4 PROTEIN; SMAD6 PROTEIN; SMAD7 PROTEIN; TRANS-ACTIVATORS;

EID: 0037700139     PISSN: 03929078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Hahn S.A., Schutte M., Hoque A.T., et al.: DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Science 271: 350-353, 1996.
2. Savage C., Das P., Finelli A.L., et al.: Caenorhabditis elegans genes sma-2, sma-3, and sma-4 define a conserved family of transforming growth factor beta pathway components. Proc. Natl. Acad. Sci. U S A. 93: 790-794, 1996.
3. Riggins G.J., Thiagalingam S., Rozenblum E., et al.: Mad-related genes in the human. Nat. Genet. 13: 347-349, 1996.
4. Liu F., Hata A., Baker J.C., et al.: A human Mad protein acting as a BMP-regulated transcriptional activator. Nature 381: 620-623, 1996.
5. Derynck R, Zhang Y, Feng XH.: Smads: transcriptional activators of TGF-beta responses. Cell 95: 737-740, 1998.
6. Moustakas A, Souchelnytskyi S, Heldin CH.: Smad regulation in TGF-beta signal transduction. J. Cell Sci. 114: 4359-4369, 2001.
7. Heldin C.H., Miyazono K., ten Dijke P.: TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature 390: 465-471, 1997.
8. Miyazono K., ten Dijke P., Heldin CH.: TGF-beta signaling by Smad proteins. Adv. Immunol. 75: 115-157, 2000.
9. Imamura T., Takase M., Nishihara A., et al.: Smad6 inhibits signaling by the TGF-beta superfamily. Nature 389: 622-626, 1997.
10. Nakao A., Afrakhte M., Moren A., et al.: Identification of Smad7, a TGFbeta-inducible antagonist of TGF-beta signaling. Nature 389: 631-635,1997.
11. Moustakas A, Souchelnytskyi S, Heldin CH.: Smad regulation in TGF-beta signal transduction. J. Cell Sci. 114: 4359-4369, 2001.
12. Satterwhite J., Moses L.: Mechanisms of transforming growth factor-beta 1-induced cell cycle arrest. Invasion Metastasis 14: 309-318, 1994.
13. Lin H.Y., Wang X.F., Ng-Eaton E., Weinberg R.A., Lodish H.F.: Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase. Cell 68: 775-785, 1992.
14. Lu S.L., Akiyama Y., Nagasaki H., Saitoh K., Yuasa Y.: Mutations of the transforming growth factor-beta type II receptor gene and genomic instability in hereditary nonpolyposis colorectal cancer. Biochem. Biophys. Res. Commun. 216: 452-457, 1995.
15. Parsons R., Myeroff L.L., Liu B., et al.: Microsatellite instability and mutations of the transforming growth factor beta type 11 receptor gene in colorectal cancer. Cancer Res. 55: 5548-5550, 1995.
16. Garrigue-Antar L., Munoz-Antonia T., Antonia S.J., Gesmonde J., Vellucci V.F., Reiss M.: Missense mutations of the transforming growth factor beta type 11 receptor in human head and neck squamous carcinoma cells. Cancer Res. 55: 3982-3987, 1995.
17. Itoh S, Itoh F, Goumans MJ, Ten Dijke P.: Signaling of transforming growth factor-beta family members through Smad proteins. Eur. J. Biochem. 267: 6954-6967, 2000.
18. Hahn S.A., Hoque A.T., Moskaluk C.A., et al.: Homozygous deletion map at 18q21.1 in pancreatic cancer. Cancer Res. 56: 490-494, 1996.
19. Takagi Y., Kohmura H., Futamura M., et al.: Somatic mutation of the DPC4 gene in human colorectal cancers in vivo. Gastroenterology 111: 1369-1372, 1996.
20. Nagatake M., Takagi Y., Osada H., et al.: Somatic in vivo alterations of the DPC4 gene at 18q21 in human lung cancers. Cancer Res. 56: 2718-2720, 1996.
21. Riggins G.J., Kinzler K.W., Vogelstein B., Thiagalingam S.: Frequency of Smad gene mutations in human cancers Cancer Res. 57: 2578-2580, 1997.
22. Takaku K., Oshima M., Miyoshi H., et al.: Intestinal tumorigenesis in compound mutant mice of both Dpc4(Smad4) and Apc genes. Cell 92: 645-656, 1998.
23. Eppert K., Scherer S.W., Ozcelik H., et al.: MADR2 maps to 18q21 and encodes a TGF-beta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Cell 86: 543-552, 1996.
24. Uchida K., Nagatake M., Osada H., et al.: Somatic in vivo alterations of JV18-1 gene at 18q21 in human lung cancers. Cancer Res. 56: 5583-5585, 1996.
25. Arai T, Akiyama Y, Okabe S, Ando M, Endo M, Yuasa Y.: Genomic structure of the human Smad3 gene and its infrequent alterations in colorectal cancers. Cancer Lett. 122: 57-163, 1998.
26. Yuan Z., James R., Luis P., Jonathan G.: Smad3 mutant mice develop metastatic colorectal cancer. Cell 94: 703-714, 1998.
27. Kawate S., Ohwada S., Hamada K., et al.: Mutational analysis of the Smad6 and Smad7 genes in hepatocellular carcinoma. Int. J. Mol. Med. 8: 49-52, 2001.
28. Wang D., Kanuma T., Mizumuma H., Ibuki Y., Takenoshita S.: Mutation analysis of the Smad6 and Smad7 gene in human ovarian cancers. Int. J. Oncol. 17:1087-1091, 2000.