The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype

Cancer Research

Volumn 57, Issue 3, 1997, Pages 391-395

  Carlomagno, Francesca ^a   Salvatore, Giuliana ^a   Cirafici, Anna Maria ^a   De Vita, Gabriella ^a   Melillo, Rosa Marina ^a   De Francisas, Vittorio ^a   Billaud, Marc ^b   Fusco, Alfrede ^c   Santoro, Massimo ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITÉ LYON 1   (France)

^c UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; DIMERIZATION; ENZYME ACTIVATION; MOLECULAR GENETICS; MOUSE; MULTIPLE ENDOCRINE NEOPLASIA; NONHUMAN; PHENOTYPE; PHEOCHROMOCYTOMA; POINT MUTATION; PRIORITY JOURNAL; THYROID CARCINOMA;

3T3 CELLS; ANIMALS; DROSOPHILA PROTEINS; GENE EXPRESSION REGULATION, NEOPLASTIC; MICE; MOLECULAR WEIGHT; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PC12 CELLS; PHENOTYPE; POINT MUTATION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; PROTO-ONCOGENES; RATS; RECEPTOR PROTEIN-TYROSINE KINASES;

EID: 0031049753     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Takahashi, M., Buma, Y., Iwamoto, T., Inaguma, Y., Ikeda, H., and Hiai, H. Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene, 3: 571-578, 1988.
2. Pachnis, V., Mankoo, B., and Costantini, F. Expression of the c-RET proto-oncogene during mouse embryogenesis. Development (Camb.), 119: 1005-1017, 1993.
3. Avantaggiato, V., Dathan, N. A., Grieco, M., Fabien, N., Lazzaro, D., Simeone, A., Fusco, A., and Santoro, M. Developmental expression of the RET proto-oncogene. Cell Growth & Differ., 5: 305-311, 1994.
4. Schuchardt, A., D'Agati, V., Larsson-Blomberg, L., Costantini, F., and Pachnis, V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature (Lond.), 367: 380-383, 1994.
5. Pasini, B., Borrello, M. G., Greco, A., Bongarzone, I., Luo, Y., Mondellini, P., Alberti, L., Miranda, C., Arighi, E., Bocciardi, R., Seri, M., Barone, V., Radice, M. T., Romeo, G., and Pierotti, M. Loss of function effect of RET mutations causing Hirschsprung disease. Nat. Genet., 10: 35-40, 1995.
6. Carlomagno, F., De Vita, G., Berlingieri, M. T., de Franciscis, V., Melillo, R. M., Colantuoni, V., Kraus, M. H., Di Fiore, P. P., Fusco, A., and Santoro, M. Molecular heterogeneity of RET loss of function in Hirschsprung's disease. EMBO J., 15: 2717-2725, 1996.
7. Treanor, J. J. S., Goodman, L., de Sauvage, F., Stone, D. M., Poulsen, K. T., Beck, C. D., Gray, C., Armanini, M. P., Pollock, R. A., Hefti, F., Phillips, H. S., Goddard, A., Moore, M. W., Buj-Bello, A., Davies, A. M., Asai, N., Takahashi, M., Vandlen, R., Henderson, C. E., and Rosenthal, A. Characterization of a multicomponent receptor for GDNF. Nature (Lond.). 382: 80-83, 1996.
8. Jing, S., Wen, D., Yu, Y., Holst, P. L., Luo, Y., Fang, M., Tamir, R., Antonio, L., Hu, Z., Cupples, R., Louis, J. C., Hu, S., Altrock, B. W., and Fox, G. M. GDNF-induced activation of the Ret protein tyrosine kinase is mediated by GDNFR-α, a novel receptor for GDNF. Cell, 85: 1113-1124, 1996.
9. Smith, D. P., Eng, C., and Ponder, B. A. J. Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes and Hirschsprung's disease. J. Cell. Sci, 18: 43-49, 1994.
10. Hofstra, R. M. W., Landsvater, R. M., Ceccherini, I., Stulp, R. P., Stelwagen, T., Luo, Y., Pasini, B., Hoppener, J. W. M., van Amstel, H. C. P., Romeo, G., Lips, C. J. M., and Buys, C. H. C. M. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature (Lond.), 367: 375-376, 1994.
11. Carlson, K. M., Dou, S., Chi, D., Scavarda, N., Toshima, K., Jackson, C. E., Wells, S. A., Goodfellow, P., and Donis-Keller, H. Single missense mutation in the tyrosine-kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia type 2B. Proc. Natl. Acad. Sci. USA, 91: 1579-1583, 1994.
12. Mulligan, L. M., Kwok, J. B. J., Healey, C. S., Elsdon, M. J., Eng, C., Gardner, E., Love, D. R., Mole, S. E., Moore, J. K., Papi, L., Ponder, M. A., Telenius, H., Tunnacliffe, A., and Ponder, B. A. J. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature (Lond.), 363: 458-460, 1993.
13. Donis-Keller, H., Dou, S., Chi, D., Carlson, K. M., Toshima, K., Lairmore, T. C., Howe, J. R., Moley, J. F., Goodfellow, P., and Wells, S. A. Mutations in the RET proto-oncogene are associated with MEN2A and FMTC. Hum. Mol. Gen., 2: 851-856, 1993.
14. Mulligan, L. M., Eng, C., Healey, C. S., Clayton, D., Kwok, J. B. J., Gardner, E., Ponder, M. A., Frilling, A., Jackson, C. E., Lehnert, H., Neumann, H. P. H., Thibodeau, S. N., and Ponder, B. A. J. Specific mutations of the RET proto-oncogene art related to disease phenotype in MEN2A and FMTC. Nat. Genet., 6: 70-74, 1994.
15. Forster-Gibson, C. J., and Mulligan, L. M. Multiple endocrine neoplasia type 2. Eur. J. Cancer, 30: 1969-1974, 1994.
16. Mulligan, L. M., Eng, C., Attiè, T., Lyonnet, S., Marsh, D. J., Hyland, V. J., Robinson, B. G., Frilling, A., Verelien-Dumoulin, C., Safar, A., Venter, D. J., Munnich, A., and Ponder, B. A. J. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum. Mol. Genet., 3: 2163-2167, 1994.
17. Eng, C., Smith, D. P., Mulligan, L. M., Healey, C. S., Zvelebil, M. J., Stonehouse, T. J., Ponder, M. A., Jackson, C. E., Waterfield, M. D., and Ponder, B. A. J. A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene, 10: 509-513, 1995.
18. Bolino, A., Schuffenecker, I., Luo, Y., Sen, M., Silengo, M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., Schlumberger, M., Tourniaire, J., Lenoir, G. M., and Romeo, G. RET mutations in exons 13 and 14 of FMTC patients. Oncogene, 10: 2415-2419, 1995.
19. Santoro, M., Carlomagno, F., Romano, A., Bottaro, D. P., Dathan, N. A., Grieco, M., Fusco, A., Vecchio, G., Matoskova, B., Kraus, M. H., and Di Fiore, P. P. Germ-line mutations of MEN2A and MEN2B activate RET as a dominant transforming gene by different molecular mechanisms. Science (Washington DC), 267: 381-383, 1995.
20. Asai, N., Iwashita, T., Matsuyama, M., and Takahashi, M. Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol. Cell. Biol., 15: 1613-1619, 1995.
21. Di Fiore, P. P., Pierce, J. H., Kraus, M. H., Segatto, O., King, C. R., Schlessinger, J., and Aaronson, S. A. ErbB-2 is a potent oncogene when overexpressed in NIH-3T3 cells. Science (Washington DC), 237: 178-181, 1987.
22. Janssen-Timmen, U., Lemaire, P., Mattéi, M. G., Revelant, O., and Charnay, P. Structure, chromosome mapping and regulation of the mouse zinc-finger gene Krox-24; evidence for a common regulatory pathway for immediate-early serum-response genes. Gene (Amst), 80: 325-336, 1989.
23. Califano, D., D'Alessio, A., Colucci-D'Amato, G. L., De Vita, G., Monaco, C., Santelli, G., Di Fiore, P. P., Vecchio, G., Fusco, A., Santoro, M., and de Franciscis, V. Men2 ret mutants dissociate cell differentiation from inhibition of proliferation and abrogate nerve growth factor responsiveness in the PC12 cells. Proc. Natl. Acad. Sci. USA., 93: 7933-7937, 1996.
24. Higuchi, R. Recombinant PCR. In: M. A. Innis, D. H. Gelfand, J. J. Sninski, and T. J. White (eds.), PCR Protocols: A Guide to Methods and Applications, pp. 177-183. San Diego, CA: Academic Press, Inc., 1990.
25. Santoro, M., Wong, T. W., Aroca, P., Santos, E., Matoskova, B., Grieco, M., Fusco, A., and Di Fiore, P. P. An epidermal growth factor receptor/ret chimera generates mitogenic and transforming signals: evidence for a ret-specific signaling pathway. Mol. Cell. Biol., 14: 663-675, 1994.
26. Takahashi, M., Asai, N., Iwashita, T., Isomura, T., Miyazaki, K., and Matsuyama, M. Characterization of the RET proto-oncogene products expressed in mouse L cells. Oncogene, 8: 2925-2929, 1993.
27. Eng, C., Mulligan, L. M., Smith, D. P., Healey, C. S., Frilling, A., Raue, F., Neumann, H. P. H., Pfragner, R., Behmel, A., Lorenzo, M. J., Stonehouse, T. J., Ponder, M. A., and Ponder, B. A. J. Mutation in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Genes Chromosomes Cancer, 12: 209-212, 1995.