Genetic analysis of the TSH receptor gene in differentiated human thyroid carcinomas

Journal of Endocrinological Investigation

Volumn 22, Issue 4, 1999, Pages 273-278

  Cetani, F ^a   Tonacchera, M ^a   Pinchera, A ^a   Barsacchi, R ^a   Basolo, F ^a   Miccoli, P ^a   Pacini, F ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

Activating mutations; Adenyl cyclase activity; Differentiated thyroid carcinoma; Thyrotropin receptor

Indexed keywords

ADENYLATE CYCLASE; AMINO ACID; DNA FRAGMENT; PRIMER DNA; STREPTAVIDIN; THYROTROPIN RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; BIOTINYLATION; CLINICAL ARTICLE; DNA POLYMORPHISM; ENZYME ACTIVITY; EXON; FEMALE; GENE AMPLIFICATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MALE; MOLECULAR CLONING; PARENCHYMA; POINT MUTATION; POLYMERASE CHAIN REACTION; SOMATIC MUTATION; THYROID CARCINOMA; THYROID FOLLICULAR CARCINOMA; THYROID PAPILLARY CARCINOMA;

EID: 0032935093     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03343556     Document Type: Article

References (34)

1. Dumont J.E., Vassart G., Refetoff S. Thyroid disorders. In: Scriver C.R., Ba L.A. (Eds.), The metabolic basis of inherited diseases. McGraw-Hill, New York, 1989, p. 1843-1879.
2. Dumont J.E., Lamy F., Roger P, Maenhaut C. Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factor. Physiol. Rev. 1992, 72: 667-679.
3. Vassart G., Parma J., Van Sande J., Dumont J.E. The thyrotropin receptor and the regulation of thyrocyte function and growth: update 1994. Endocr. Rev. 1994, 3: 77-80.
4. Tonacchera M., Van Sande J., Parma J., Duprez L., Cetani F., Costagliola S., Dumont J.E., Vassart G. TSH receptor and disease. Clin. Endocrinol. (Oxf.) 1996, 44: 621-633.
5. Laurent E., Mockel J., Van Sande J., Graff I., Dumont J.E. Dual activation by thyrotropin of the phospholipase C and cyclic AMP cascades in human thyroid. Mol. Cell. Endocrinol. 1987, 52: 273-278.
6. Van Sande J., Raspe E., Perret J., Lejeune C., Maenhaut C., Vassart G., Dumont J.E. Thyrotropin activates both cAMP and the PIP2 cascades in CHO-K1 cells expressing the human cDNA of thyrotropin receptor. Mol. Cell. Endocrinol. 1990, 82: R1-R6.
7. Allgeier A., Offermans S., Van Sande J., Spicker K., Schultz G., Dumont J.E. The human thyrotropin receptor activates G-protein Gs and Gq11. J. Biol. Chem. 1994, 269: 13733-13753.
8. Parma J., Duprez L., Van Sande J., Cochaux P., Gervy C., Mockel J., Dumont J.E., Vassart G. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 1993, 365: 649-651.
9. Paschke R., Tonacchera M., Van Sande J., Parma J., Vassart G. Identification and functional characterization of two new somatic mutations causing constitutive activation of the TSH receptor in hyperfunctioning autonomous adenomas of the thyroid. J. Clin. Endocrinol. Metab. 1994, 79: 1785-1789.
10. ++ cascades. Mol. Endocrinol. 1995, 9: 725-733.
11. Porcellini A., Ciullo I., Laviola L., Amabile A., Fenzi G., Avvedimento V. Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. J. Clin. Endocrinol. Metab. 1994, 79: 657-733.
12. Van Sande J., Parma J., Tonacchera M., Swillens S., Dumont J.E., Vassart G. Somatic and germline mutations of the TSH receptor gene in thyroid disease. J. Clin. Endocrinol. Metab. 1995, 80: 2577-2585.
13. Russo D., Arturi F., Suarez H.G., Schlumberger M., Du Villard A., Crocetti U., Filetti S. Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas. J. Clin. Endocrinol. Metab. 1996, 81: 1548-1551.
14. Parma J., Duprez L., Van Sande J., Hermans J., Rocmans P., Van Gliet G., Costagliola S., Rodien P., Vumont J.E., Vassart G. Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gsa genes as a cause of toxic thyroid adenomas. J. Clin. Endocrinol. Metab. 1997, 82: 2695-2701.
15. Cetani F., Tonacchera M., Vassart G. Differential effects of NaCl concentration on the constitutive activity of the thyrotropin and the luteinizing hormone/chorionic gonadotropin receptors. FEBS Lett. 1996, 378: 27-31.
16. Russo D., Arturi F.J., Chiefari E., Filetti S. Molecular insight into TSH receptor abnormality and thyroid disease. J. Endocrinol. Invest. 1997, 20: 1-6.
17. Tonacchera M., Chiovato L., Pinchera A., Agretti P., Fiore E., Cetani F., Rocchi R., Viacava P., Miccoli P., Vitti P. Hyperfunctioning thyroid nodules in toxic multinodular goiter share with solitary toxic adenoma activating TSH receptor mutations. J. Clin. Endocrinol. Metab. 1998, 3: 492-498.
18. Duprez L., Parma J., Van Sande J., Allegejer A., Leclere J., Schvartz C., Delisle M.J., Decoulx M., Orgiazzi J., Dumont J.E., Vassart G. Germline mutations in the thyrotropin receptor gene cause non autoimmune autosomal dominant hyperthyroidism. Nat. Gen. 1994, 7: 396-401.
19. Tonacchera M., Van Sande J., Cetani F., Swillens S., Schvartz C., Winiszewski P., Portmann L., Dumont J.E., Vassart G. Functional characteristics of three new germline mutations of the TSH receptor gene causing autosomal dominant toxic hyperplasia J. Clin. Endocrinol. Metab. 1996, 87: 547-554.
20. Kopp P., Van Sande J., Parma J., Duprez L., Gerber H., Joss E., Jameson J.L., Dumont J.E., Vassart G. Congenital non autoimmune hyperthyroidism caused by a neomutation in the thyrotropin receptor gene. N. Engl. J. Med. 1995, 332: 150-154.
21. De Roux N., Polak M., Couet J., Leger J., Czernichow P., Milgrom E., Misrahi M. A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. J. Clin. Endocrinol. Metab. 1996, 787: 2023-2026.
22. Russo D., Arturi F., Schlumberger M., Caillou B., Monier R., Filetti S., Suarez H.O. Activating mutations of the TSH receptor in differentiated thyroid carcinomas. Oncogene 1995, 11: 1907-1911.
23. Russo D., Tumino S., Arturi F., Vigneri P., Grasso G., Pontecorvi A., Filetti S., Belfiore A. Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma. J. Clin. Endocrinol. Metab. 1997, 2: 735-738.
24. Matsuo K., Friedman E., Gejman P.V., Fagin J.A. The thyrotropin receptor (TSHR) is not an oncogene for thyroid tumors: structural studies of the TSHR and α-subunit of Gs in human thyroid neoplasms. J. Clin. Endocrinol. Metab. 1993, 76: 1446-1451.
25. Esapa C., Foster S., Johnson S., Jameson J.L., Kendall-Taylor O., Harris P.E. G protein and thyrotropin receptor mutations in thyroid neoplasia. J. Clin. Endocrinol. Metab. 1997, 82: 493-496.
26. Spambalg D., Sharifi N., Elisei R., Gross J.L., Medeiros-Neto G., Fagin J.A. Structural studies of the thyrotropin receptor and Ga in human thyroid cancers: low prevalence of mutations predict infrequent involvement in malignant transformation. J. Clin. Endocrinol. Metab. 1996, 87: 3893-3901.
27. nd ed. Cold Spring Harbor Laboratory Press, 1989.
28. De Roux N., Misrahi M., Chatelain N., Gross B., Milgrom E. Microsatellites and PCR primers for genetics studies and genomic sequencing of the human TSH receptor gene. Mol. Cell. Endocrinol. 1996, 777: 253-256.
29. Cetani F., Costagliola S., Tonacchera S., Panneels V., Vassart G., Ludgate M. The thyroperoxidase doublet is not produced by alternative splicing. Mol. Cell. Endocrinol. 1995, 15: 125-132.
30. Ledent C., Dumont J.E., Vassart G., Parmentier M. Thyroid expression of an A2 adenosine receptor trangene induces thyroid hyperplasia and hyperthyroidism. EMBOJ. 1992, 11: 537-542.
31. Thomas-Morvan C., Carayon P., Schlumberger M., Vignal A., Tubiana M. Thyrotrophin stimulation of adenylate cyclase and iodine uptake in human differentiated thyroid cancer. Acta Endocrinol. (Copenh.) 1982, 101: 25-28.
32. Tonacchera M., Cetani F., Parma J., Van Sande J., Vassart G., Dumont J. Oncogenic mutations in thyroid adenoma: methodological criteria. Eur. J. Endocrinol. 1996, 135: 444-446.
33. Hedinger C., Williams E.D., Sobin L.H. The WHO histological classification of thyroid tumors: a commentary on the second edition. Cancer. 1989, 63: 908-911.
34. Said S., Schumberger M., Suarez H.G. Oncogenes and antioncogenes in human epithelial thyroid tumors. J. Endocrinol. Invest. 1994, 17: 37-42.