Molecular heterogeneity of RET loss of function in Hirschsprung's disease

EMBO Journal

Volumn 15, Issue 11, 1996, Pages 2717-2725

  Carlomagno, Franceses ^a   De Vita, Gabriella ^a   Berlingieri, Maria Teresa ^a   De Franciscis, Vittorio ^a   Melillo, Rosa Marina ^a   Colantuoni, Vittorio ^b   Kraus, Matthias H ^c   Fiore, Pier Paolo Di ^c,d   Fusco, Alfredo ^e   Santoro, Massimo ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^d UNIVERSITY OF BARI   (Italy)

^e UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

Author keywords

Cell transformation; Megacolon; Oncoprotein; RET; Tyrosine kinase

Indexed keywords

ANIMAL CELL; ARTICLE; CELL STRAIN; CELL STRAIN 3T3; GENE FUNCTION; GENE MUTATION; GENETIC HETEROGENEITY; HIRSCHSPRUNG DISEASE; MISSENSE MUTATION; MOUSE; NONHUMAN; ONCOGENE RET; PRIORITY JOURNAL; PROTO ONCOGENE;

EID: 15844405218     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1002/j.1460-2075.1996.tb00632.x     Document Type: Article

References (49)

1. Angrist,M. et al. (1993) A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nature Genet., 4, 351-356.
2. Angrist,M., Bolk,S., Thiel,B., Puffenberger,E.G., Hofstra,R.M., Buys,C.H., Cass,D.T. and Chakravarti,A. (1995) Mutation analysis of the RET receptor lyrosine kinase in Hirschsprung disease. Hum. Mol. Genet., 4, 821-830.
3. Asai,N., Iwashita,T., Matsuyama,M. and Takahashi,M. (1995) Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol. Cell. Biol., 15, 1613-1619.
4. Attie,T., Pelet,A., Sarda,P., Eng,C., Edery,P., Mulligan,L.M., Ponder, B.A.J., Munnich,A. and Lyonnet,S. (1994) A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease. Hum. Mol. Genet., 3, 1439-1440.
5. Attie,T. et al. (1995) Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum. Mol. Genet., 4, 1381-1386.
6. Califano,D. et al. (1995) Activated RET/PTC oncogene elicits immediate early and delayed response genes in PC12 cells. Oncogene, 11, 107-112.
7. Carlson,K.M., Dou,S., Chi,D., Scavarda,N., Toshima,K., Jackson,C.E., Wells,S.A., Goodfellow,P. and Donis-Keller,H. (1994) Single missense mutation in the tyrosine-kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc. Natl Acad. Sci. USA, 91, 1579-1583.
8. D'Alessio,A., De Vita,G., Calì,G., Nitsch,L., Fusco,A., Vecchio,G., Santelli,G., Santoro,M. and De Francisas,V. (1995) Expression of the RET oncogene induces the SK-N-BE neuroblastoma cells to differentiate. Cell Growth Diff., 6, 1387-1394.
9. D'Arcangelo,G. and Halegoua,S. (1993) A branched signaling pathway for nerve growth factor is revealed by Src-, Ras-, and Raf-mediated gene inductions. Mol. Cell. Biol., 13, 3146-3155.
10. Di Fiore,P.P., Pierce,J.H., Kraus,M.H., Segatto,O., King,C.R., Schlessinger,J. and Aaronson,S.A. (1987) erbB-2 is a potent oncogene when overexpressed in NIH-3T3 cells. Science, 237, 178-181.
11. Donis-Keller,H. et al. (1993) Mutations in the RET proto-oncogene are associated with MEN2A and FMTC. Hum. Mol. Genet., 2, 851-856.
12. Edery,P. et al. (1994) Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature, 367, 378-380.
13. Eng,C. et al. (1994) Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum. Mol. Genet., 3, 237-241.
14. Fazioli,F., Minichiello,L., Matoskova,B., Wong,W.T. and Di Fiore,P.P. (1993) Eps15, a novel tyrosine kinase substrate, exhibits transforming activity. Mol. Cell. Biol., 13, 5814-5827.
15. Greene,L.A. and Tishler,A.S. (1976) Establishment of a noradrenergic clonal cell line of rat pheochromocytoma cells which respond to nerve growth factor. Proc. Natl Acad. Sci. USA, 73, 2424-2428.
16. Grieco,M. et al. (1990) PTC is a novel rearranged form of the ret protooncogene and is frequently detected in vivo in human thyroid papillary carcinomas. Cell, 60, 557-563.
17. Hanks,S.K., Quinn,A.M. and Hunter,T. (1988) The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. Science, 241, 42-52.
18. Higuchi,R. (1990) Recombinant PCR. In Innis,M.A., Gelfand,D.H., Sninski,J.J. and White,T.J. (eds), PCR Protocols: A Guide to Methods and Applications. Academic Press Inc., San Diego, CA, pp. 177-183.
19. Hofstra,R.M.W. et al. (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature, 367, 375-376.
20. Itoh,F. et al. (1992) Identification and analysis of the ret proto-oncogene promoter region in neuroblastoma cell lines and medullary thyroid carcinomas from MEN2A patients. Oncogene, 7, 1201-1206.
21. Iwamoto,T. Taniguchi,M., Asai,N., Ohkusu,K., Nakashima,I. and Takahashi,M. (1993) cDNA cloning of mouse ret proto-oncogene and its sequence similarity to the cadherin superfamily. Oncogene, 8, 1067-1091.
22. Janssen-Timmen,U., Lemaire,P., Mattéi,M.G., Revelant,O. and Charnay,P. (1989) 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, 80, 325-336.
23. Kwok,J.B.J., Gardner,E., Warner,J.P., Ponder,B.A.J. and Mulligan,L.M. (1993) Structural analysis of the human Ret proto-oncogene using exon trapping. Oncogene, 8, 2575-2582.
24. Lanzi,C. et al. (1992) Identification of the product of two oncogenic rearranged forms of the RET proto-oncogene in papillary thyroid carcinomas. Oncogene, 7, 2189-2194.
25. Lemaire,P., Relevant,O., Bravo,R. and Charnay,P. (1988) Two mouse genes encoding potential transcription factors with identical DNA-binding domains are activated by growth factors in cultured cells. Proc. Natl Acad. Sci. USA, 85, 4691-4695.
26. Lukow,B. and Schutz,G. (1987) CAT constructions with multiple unique restriction sites for the functional analysis of eukaryotic promoters and regulatory elements. Nucleic Acids Res., 15, 5490.
27. Luo,Y. et al. (1993) Close linkage with the RET proto-oncogene and boundaries of deletion mutants in autosomal dominant Hirschsprung disease. Hum. Mol. Genet., 11, 1803-1808.
28. Lyonnet,S. et al. (1993) A gene for Hirschsprung disease (megacolon) maps to the proximal long arm of chromosome 10. Nature Genet., 4, 346-350.
29. Martucciello,G., Bicocchi,M.P., Dodero,P., Lerone,M., Cirillo,M.S., Puliti,A., Gimelli,G., Romeo,G. and Jasonni,V. (1992) Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. Pediatr. Surg. Int., 7, 308-310.
30. Milbrandt,J. (1987) A nerve growth factor-induced gene encodes a possible transcriptional regulatory factor. Science, 238, 797-799.
31. Mulligan,L.M. et al. (1993) Germ-line mutations of the RET protooncogene in multiple endocrine neoplasia type 2A. Nature, 363, 458-460.
32. Okamoto,E. and Ueda,T. (1967) Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung disease. J. Pediatr. Surg., 10, 437-443.
33. Pachnis,V., Mankoo,B. and Costantini,F. (1993) Expression of the c-RET proto-oncogene during mouse embryogenesis. Development, 119, 1005-1017.
34. Pasini,B. et al. (1995) Loss of function effect of RET mutations causing Hirschsprung disease. Nature Genet., 10, 35-40.
35. Pelet,A., Attie,T., Goulet,O., Eng,C., Ponder,B.A.J., Munnich,A. and Lyonnet,S. (1994) De-novo mutations of the RET proto-oncogene in Hirschsprung's disease. Lancet, 344, 1769-1770.
36. Possenti,R., Di Rocco,G., Nasi,S. and Levi,A. (1992) Regulatory elements in the promoter region of vgf, a nerve growth factor-inducible gene. Proc. Natl Acad. Sci. USA, 89, 3815-3819.
37. Puffenberger,E.G., Hosoda,K., Washington,S.S., Nakao,K., deWit,D., Yanagisawa,M. and Chakravarti,A. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell, 79, 1257-1266.
38. Romeo,G. et al. (1994) Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature, 367, 377-378.
39. Santoro,M., Wong,T.W., Aroca,P., Santos,E., Matoskova,B., Grieco,M., Fusco,A. and Di Fiore,P.P. (1994) An epidermal growth factor receptor/ret chimera generates mitogenic and transforming signals: evidence for a rer-specific signaling pathway. Mol. Cell. Biol., 14, 663-675.
40. Santoro,M. et al. (1995) Germ-line mutations of MEN2A and MEN2B activate RET as a dominant transforming gene by different molecular mechanisms. Science, 267, 381-383.
41. Schneider,R. (1992) The human proto-oncogene ret: a communicative cadherin? Trends Biochem. Sci., 17, 468-469.
42. Schuchardt,A., D'Agati,V., Larsson-Blomberg,L., Costantini,F. and Pachnis,V. (1994) Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature, 367, 380-383.
43. Schuchardt,A., Srinivas,S., Pachnis,V. and Costantini,F. (1995) Isolation and characterization of a chicken homolog of the c-ret proto-oncogene. Oncogene, 10, 641-649.
44. Smith,D.P., Eng,C. and Ponder,B.A.J. (1994) Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes and Hirschsprung disease. J. Cell Sci., 18, 43-49.
45. Takahashi,M., Ritz,J. and Cooper,G.M. (1985) Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell, 42, 581-588.
46. Takahashi,M., Buma,Y., Iwamoto,T., Inaguma,Y., Ikeda,H. and Hiai,H. (1988) Cloning and expression of the ret protooncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene, 3, 571-578.
47. Takahashi,M., Buma,Y. and Taniguchi,M. (1991) Identification of the ret proto-oncogene products in neuroblastoma and leukemia cells. Oncogene, 6, 297-301.
48. Takahashi,M., Asai,N., Iwashita,T., Isomura,T., Miyazaki,K. and Matsuvama,M. (1993) Characterization of the RET proto-oncogene products expressed in mouse L cells. Oncogene, 8, 2925-2929.
49. Van den Pol,A.N., Decavel,C., Levi,A. and Paterson,B. (1989) Hypothalamic expression of a novel gene product, VGF: immunocytochemical analysis. J Neurosci., 9, 4122-4137.