RET in human development and oncogenesis

BioEssays

Volumn 19, Issue 5, 1997, Pages 389-395

  Edery, Patrick ^a   Eng, Charis ^b,c   Munnich, Arnold ^a   Lyonnet, Stanislas ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0031149999     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/bies.950190506     Document Type: Review

References (77)

1. Bolande, R. P. (1973). The neurocristopathies; A unifying concept of disease arising in neural crest maldevelopment. Hum. Pathol. 5, 409-429.
2. Schimke, R. N. (1990). Multiple endocrine neoplasia: how many syndromes? Am. J. Med. Genet. 37, 375-383.
3. Ponder, B. A. J. et al. (1988). Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet i, 397-400.
4. Mathew, C. G. P. et al. (1987). A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature 328, 527-528.
5. Simpson, N. E. et al. (1987). Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature 328, 528-530.
6. Mole, S. E., Mulligan, L. M., Healey, C. S., Ponder, B. A. J. and Tunnacliffe, A. (1993). Localisation of the gene for multiple endocrine neoplasia type 2A to a 480kb region in chromosome band 10q11.2. Hum. Mol. Genet. 2, 247-252.
7. Hirschsprung, H. (1888). Stuhlträgheit neugeborener infolge von dilatation und hypertrophic des colons. Jahrb. Kinderheilkunde 27, 1.
8. Okamoto, E. and Ueda, T. (1967). Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. Pediatr. Surg. Int. 1, 80-83.
9. Badner, J., Sieber, W., Garver, K. and Chakravarti, A. (1990). A genetic study of Hirschsprung disease. Am. J. Hum. Genet. 46, 568-580.
10. Martucciello, G. et al. (1992). Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. Pediatr. Surg. Intern. 7, 308-310.
11. Lyonnet, S. et al. (1993). A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nature Genetics 4, 346-350.
12. Angrist, M. et al. (1993). A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nature Genetics 4, 351-356.
13. Edery, P. et al. (1993). Hirschsprung disease: mapping of a dominant gene closely linked to the RET locus on the proximal long arm of chromosome 10. Am. J. Hum. Genet. 53 (suppl), A 996.
14. Luo, Y. et al. (1993). Close linkage with the RET proto-oncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. Hum. Mol. Genet. 2, 1803-1808.
15. Takahashi, M., Ritz, J. and Cooper, G. (1985). Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell 42, 581-588.
16. Grieco, M. et al. (1990). PTC is a novel rearranged form of the ret protooncogene and is frequently expressed in vivo in human papillary thyroid carcinomas. Cell 60, 557-563.
17. Bongarzone, I. et al. (1993). Molecular characterization of a thyroid tumour-specific transforming sequence formed by the fusion of ret tyrosine kinase and the regulatory subunit RI of cyclic AMP-dependant protein kinase A. Mol. Cell. Biol. 13, 358-366.
18. Santoro, M. et al. (1994). Molecular characterization of RET/PTC3; a novel rearranged version of the RET proto-oncogene in a human thyroid papillary carcinoma. Oncogene 9, 509-516.
19. Takahashi, M. and Cooper, G. (1987). Ret transforming gene encodes a fusion protein homologous to tyrosine kinases. Mol. Cell. Biol. 7, 1378-1385.
20. Takahashi, M., Buma, Y. and Hiai, H. (1989). Isolation of ret proto-oncogene cDNA with an amino-terminal signal. Oncogene 4, 805-806.
21. Takeichi, M. (1991). Cadherin cell adhesion receptors as a morphogenetic regulator. Science 251, 1451-1455.
22. Schneider, R. (1992). The human proto-oncogene ret: a communicative cadherin? Trends Biochem. Sci. 17, 468-469.
23. Iwamoto, T., Taniguchi, N., Asai, N., Ohkusin, K., Nakashima, I. and Takahashi, M. (1993). cDNA cloning of mouse ret proto-oncogene and its sequence similarity to the cadherin superfamily. Oncogene 8, 1087-1091.
24. Trupp, M. et al. (1996). Functional receptor for GDNF encoded by the c-ret proto-oncogene. Nature 381, 785-789.
25. Durbec, P. et al. (1996). GDNF signalling through the Ret receptor tyrosine kinase. Nature 381, 789-793.
26. Treanor, J. J. S. et al. (1996). Characterization of a multicomponent receptor for GDNF. Nature 382, 80-83.
27. Santoro, M. et al. (1994). An epidermal growth factor receptor/ret chimera generates mitogenic and transforming signals: evidence for a ref-specific signalling pathway. Mol. Cell. Biol. 14, 663-675.
28. Romano, A., Wong, W. T., Santoro, M., Wirth, P. J., Thorgeirsson, S. S. and Di Fiore, P. P. (1994). The high transforming potency of erbB2 and ret is associated with phosphorylation of paxillin and a 23 kDa protein. Oncogene 9, 2923-2933.
29. Pasini, B. et al. (1995). The physical map of the human RET proto-oncogene. Oncogene 119, 1737-1743.
30. Myers, S. M., Eng, C., Ponder, B. A. J. and Mulligan, L. M. (1995). Characterization of RET proto-oncogene 3′ splicing variants and polyadenylation sites: a novel C-terminal for RET. Oncogene 5, 97-102.
31. Lorenzo, M. J. et al. (1995). Multiple mRNA isoforms of the human RET protooncogene generated by alternate splicing. Oncogene 10, 1377-1383.
32. Itoh, F. et al. (1992). Identification and analysis of the ret proto-oncogene promoter region in neuroblastoma cell lines and medullary thyroid carcinomas from MEN 2A patients. Oncogene 7, 1201-1206.
33. Santoro, M. et al. (1990). The ref proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. Oncogene 5, 97-102.
34. Nakamura, T., Ishizaka, Y., Nagao, M., Hara, M. and Ishikawa, T. (1994). Expression of the ret proto-oncogene product in human normal and neoplastic tissues of neural crest origin. J. Pathol. 172, 255-260.
35. Pachnis, V., Mankoo, B. and Costantini, F. (1993). Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 119, 1005-1017.
36. 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.
37. Mulligan, L. M. et al. (1993). Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363, 458-460.
38. Donis-Keller, H. et al. (1993). Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum. Mol. Genet. 7, 851-856.
39. Mulligan, L. M. et al. (1995). Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the Internatinal RET Mutation Consortium. J. Intern. Med. 238, 343-346.
40. Hofstra, R. M. W. et al. (1994). A mutation in the RET proto-oncogene associated with endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367, 375-376.
41. Carlson, K. M. et al. (1994). Single missense mutation in the tyrosine kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia type 2B. Proc. Nat. Acad. Sci. USA 91, 1579-1583.
42. Komminoth, P. et al. (1995). Analysis of RET proto-oncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer 76, 479-489.
43. Mulligan, L. M. et al. (1994). Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genetics 6, 70-74.
44. Eng, C. et al. (1995). 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.
45. Bolino, A. et al. (1995). RET mutations in exon 13 and 14 of FMTC patients. Oncogene 10, 2415-2419.
46. Hanks, S. K., Quinn, A. M. and Hunter, T. (1988). The protein kinase family: conserved features and deduced phytogeny of the catalytic domain. Science 241, 42-52.
47. Carlson, K. M. et al. (1994). Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am. J. Hum. Genet. 55, 1076-1082.
48. Kitamura, Y. et al. (1995). Two maternally derived missense mutations in the tyrosine kinase domain of the RET proto-oncogene in a patient with a de novo MEN 2B. Hum. Mol. Genet. 4, 1987-1988.
49. 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.
50. Edery, P. et al. (1994). Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367, 378-380.
51. Luo, Y. et al. (1994). Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. Eur. J. Hum. Genet. 2, 272-280.
52. Attié, T. et al. (1995). Diversity of RET proto-oncogene mutations in Hirschsprung's disease. Hum. Mol. Genet. 4, 2407-2409.
53. Angrist, M. et al. (1995). Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum. Mol. Genet. 4, 821-830.
54. Fewtrell, M. S. et al. (1994). Hirschsprung's disease associated wih a deletion of chromosome 10 (q11.2 q21.2): a further link with the neurocristopathies? J. Med. Genet. 31, 325-327.
55. Greenstein Baynash, A. et al. (1994). Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons: Missense mutation of endothelin-3 gene in lethal-spotting mice. Cell 79, 1277-1285.
56. Hosoda, K. et al. (1994). Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce aganglionic megacolon associated with white-spotted coat color in mice. Cell 79, 1267-1276.
57. Puffenberger, E. G. et al. (1994). A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79, 1257-1266.
58. Attié, T. et al. (1995). Mutation of the endothelin-receptor B gene in the Waardenburg-Hirschsprung disease. Hum. Mol. Genet. 4, 2407-2409.
59. Amiel, J. et al. (1996). Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum. Mol. Genet. 5, 355-357.
60. Kusafuka, T., Wang, Y. and Puri, P. (1996). Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. Hum. Mol. Genet. 5, 347-349.
61. Edery, P. et al. (1996). Mutation of the endothelin-3 gene in Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genetics 12, 442-444.
62. Hofstra, R. M. W. et al. (1996). A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genetics 12, 445-447.
63. Sanchez, M. P., Silos-Santiago, I., Frisen, J., He, B., Lira, S. and Barbacid, M. (1996). Renal agenesis and the absence of enteric neurons in mice lacking GDNR Nature 382, 70-73.
64. Pichel, J. G. et al. (1996). Defects in enteric innervation and kidney development in mice lacking GDNF. Nature 382, 73-76.
65. Moore, M. W. et al. (1996). Renal and neuronal abnormalities in mice lacking GDNF. Nature 382, 76-79.
66. Angrist, M., Bolk, S., Halushka, M., Lapchak, P. A. and Chakravarti, A. (1996). Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nature Genetics 14, 341-344.
67. Salomon, R. et al. (1996). Germline mutations of the RET ligand, GDNF, are not sufficient to cause Hirschsprung disease. Nature Genetics 14, 345-347.
68. Mulligan, L. M. et al. (1994), Diverse phenotypes associated with exon 10 mutations of the RETproto-oncogene. Hum. Mol. Genet. 3, 2163-2167.
69. Eng, C. et al. (1995). Mutations of the RET proto-oncogene and the Von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J. Med. Genet. 32, 934-937.
70. Lindor, N. M., Honchel, R., Khosla, S. and Thibodeau, S. N. (1995). Mutations of the RET protooncogene in sporadic phaeochromocytomas. J. Clin. Endocrinol. Metab. 80, 627-629.
71. Mulligan, L. M., Gardner, E., Smith, B. A., Mathew, C. G. P. and Ponder, B. A. J. (1993). Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2. Genes Chromosom. Cancer 6, 166-177.
72. Santoro, M. et al. (1995). Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B. Science 267, 381-383.
73. Asai, N., Iwashita, T., Matsuyama, M. and Takahashi, M. (1995). Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia type 2A mutations. Mol. Cell. Biol. 3, 1613-1619.
74. Borrello, M. G. et al. (1995). RET activation by germline MEN 2A and MEN 2B mutations. Oncogens 11, 2419-2427.
75. Songyang, Z. et al. (1995). Catalytic specificity of protein tyrosine kinases is critical for selective signalling. Nature 373, 536-539.
76. Carlomagno, F. et al. (1996). Molecular heterogeneity of RET loss of function in Hirschsprung's disease. EMBO J. 15, 2717-2725.
77. Pasini, B. et al. (1995). Loss of function effect of RET mutations causing Hirschsprung disease. Nature Genetics 10, 35-40.