Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype

Cancer Research

Volumn 57, Issue 14, 1997, Pages 2870-2872

  Ito, Shinji ^a   Iwashita, Toshihide ^a   Asai, Naoya ^a   Murakami, Hideki ^a   Iwata, Yosuke ^a   Sobue, Gen ^a   Takahashi, Masahide ^a  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYSTEINE; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CODON; FAMILIAL CANCER; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; MULTIPLE ENDOCRINE NEOPLASIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIPPLE SYNDROME; THYROID MEDULLARY CARCINOMA;

3T3 CELLS; ANIMALS; CARCINOMA, MEDULLARY; CYSTEINE; DROSOPHILA PROTEINS; HIRSCHSPRUNG DISEASE; HUMANS; MICE; MOLECULAR WEIGHT; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MUTATION; PHENOTYPE; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; PROTO-ONCOGENES; RECEPTOR PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS;

EID: 0030739287     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. 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.
2. Donis-Keller, H., Dou, S., Chi, D., Carlson, K. M., Toshima, T., Lairmore, T. C., Howe, J. R., Moley, J. F., Goodfellow, P., and Wells, S. A., Jr. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum. Mol. Genet., 2: 851-856, 1993.
3. 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. K. 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.
4. Carlson, K. M., Dou, S., Chi, D., Scavarda, N., Toshima, K., Jackson, C. E., Wells, S. A., Jr., Goodfellow, P. J., 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.
5. Ponder, B. A. J., and Smith, D. The MEN II syndromes and the role of the ret proto-oncogene. Adv. Cancer Res., 70: 179-222, 1996.
6. 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.
7. Bolino, A., Schuffenecker, I., Luo, Y., Seri, 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.
8. 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. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science (Washington DC), 267: 381-383, 1995.
9. 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.
10. Iwashita, T., Asai, N., Murakami, H., Matsuyama, M., and Takahashi, M. Identification of tyrosine residues that are essential for transforming activity of the ret proto-oncogene with MEN2A or MEN2B mutation. Oncogene, 12: 481-487, 1996.
11. Borrello, M. G., Smith, D. P., Pasini, B., Bongarzone, I., Greco, A., Lorenzo, M. J., Arighi, E., Miranda, C., Eng, C., Alberti, L., Bocciardi, R., Mondellini, P., Scopsi, L., Romeo, G., Ponder, B. A. J., and Pierotti, M. A. RET activation by germline MEN 2A and MEN 2B mutations. Oncogene, 11: 2419-2427, 1995.
12. Edery, P., Lyonnet, S., Mulligan, L. M., Pelet, A., Dow, E., Abel, L., Holder, S., Nihoul-Fekete, C., Ponder, B. A. J., and Munnich, A. Mutations of the RET protooncogene in Hirschsprung's disease. Nature (Lond.), 367: 378-380, 1994.
13. Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., Kaariainen, H., and Martucciello, G. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature (Lond.), 367: 377-378, 1994.
14. Chakravarti, A. Endothelin receptor-mediated signaling in Hirschsprung's disease. Hum. Mol. Genet., 5: 303-307, 1996.
15. 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. A. Loss of function effect of RET mutations causing Hirschsprung disease. Nat. Genet., 10: 35-40, 1995.
16. 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.
17. Iwashita, T., Murakami, H., Asai, N., and Takahashi, M. Mechanism of Ret dysfunction by Hirschsprung mutations affecting its extracellular domain. Hum. Mol. Genet., 5: 1577-1580, 1996.
18. Mulligan, L. M., Eng, C., Attie, T., Lyonnet, S., Marsh, D. J., Hyland, V. J., Robinson, B. G., Frilling, A., Verellen-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.
19. Borst, M. J., VanCamp, J. M., Peacock, M. L., and Decker, R. A. Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease. Surgery (St. Louis), 117: 386-391, 1995.
20. Angrist, M., Bolk, S., Thiel, B., Puffenberger, E. G., Hofstra, R. M., Buys, C. H. C. M., Cass, D. T., and Chakravarti, A. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum. Mol. Genet., 4: 821-830, 1995.
21. Flanagan, J. G., and Leder, P. The kit ligand: a cell surface molecule altered in steel mutant fibroblasts. Cell, 63: 185-194, 1990.
22. 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.
23. Carlomagno, F., Salvatore, G., Cirafici, A. M., De Vita, G., Melillo, R. M., de Franciscis, V., Billaud, M., Fusco, A., and Santoro, M. The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. Cancer Res., 57: 391-395, 1997.