References
Nagayama Y., Kaufman K.D., Seto P., Rapoport B. Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor. Biochem. Biophys. Res. Commun. 165: 1184, 1989.
Libert F., Lefort A., Gerard C., Parmentier M., Perret J., Ludgate M., Dumont J.E., Vassart G. Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies. Biochem. Biophys. Res. Commun. 165: 1250, 1989.
Misrahi M., Loosfelt H., Atger M., Sar S., Guiochon-Mantel A., Milgrom E. Cloning, sequencing and expression of human TSH receptor. Biochem. Biophys. Res. Commun. 166: 394, 1990.
Nagayama Y., Rapoport B. The thyrotropin receptor 25 years after its discovery: new insight after its molecular cloning. Mol. Endocrinol. 6: 145, 1992.
Vassart G., Parma J., Van Sande J., Dumont J.E. The thyrotropin receptor and the regulation of thyrocyte function and growth. Endocr. Rev. 13: 596, 1992.
Laugwitz K.L., Allgeier A., Offermann S., Spicher K., Van Sande J., Dumont J.E., Schultz G. The human thyrotropin receptor: a heptahelical receptor capable of stimulating members of all four G protein families. Proc. Natl. Acad. Sci. USA 93: 116, 1996.
Dumont J.E., Lamy F., Roger P., Maenhaut C. Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factors. Physiol. Rev. 72: 667, 1992.
Spiegel A.M. Defects in G Protein-coupled signal transduction in human disease. Annu. Rev. Physiol. 58: 143, 1995.
Pearce S.H.S., Trump D. G-protein-coupled receptors in endocrine disease. Q. J. Med. 88: 3, 1995.
Nagayama Y., Wadsworth H.L., Chazenbalk G.D., Russo D., Seto P., Rapoport B. Thyrotropin-luteinizing hormone/chorionic gonadotropin receptor extracellular domain chimeras as probes for TSH receptor function. Proc. Natl. Acad. Sci. USA 88: 902, 1991.
Nagayama Y., Rapoport B. Role of carboxyl-terminal half of the extracellular domain of the human thyrotropin receptor in signal transduction. Endocrinology 131: 548, 1992.
Kosugi S., Mori T. TSH receptor and LH receptor, 1995. Endocr. J. 42: 587, 1995.
Chazenbalk G.D., Nagayama Y., Russo D., Wadsworth H.L., Rapoport B. Functional analysis of the cytoplasmic domains of the human thyrotropin receptor by site-directed mutagenesis. J. Biol. Chem. 265: 20970, 1990.
Chazenbalk G.D., Nagayama Y., Wadsworth H.L., Russo D., Rapoport B. Signal transduction by the human thyrotropin receptor: studies on the role of individual amino acid residues in the carboxyl terminal region of the third cytoplasmic loop. Mol. Endocrinol. 5: 1523, 1991.
Paschke R., Parmentier M., Vassart G. Importance of the extracellular domain of the human thyrotropin receptor for activation of cyclic AMP production. J. Mol. Endocrinol. 13: 199, 1994.
Robinson P.R., Cohen G.B., Zhukovsky E.A., Oprian D.D. Constitutively active mutants of Rhodopsin. Neuron 9: 719, 1992.
Robbins L.S., Nadeau J.H., Johnson K.R., Kelly M.A., Roselli-Rhefuss L., Baack E., Mountjoy K.G., Cone R.D. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72: 827, 1993.
Allen L.F., Lefkowitz R.J., Caron M.G., Cotecchia S. G Protein coupled receptor genes as protooncogenes: constitutively activating mutation of the α1 B-adrenergic receptor enhances mitogenesis and tumorigenicity. Proc. Natl. Acad. Sci. USA 88: 11354, 1991.
Samama P., Cotecchia S., Costa T., Lefkowitz R.J. A mutation induced activated state of the β2-adrenergic receptor. Extending the ternary complex model. J. Biol. Chem. 268: 4625, 1993.
Ledent C., Dumont J.E., Vassart G., Parmentier M. Thyroid expression of an A2 adenosine receptor transgene induces thyroid hyperplasia and hyperthyroidism. EMBO J. 11: 537, 1992.
Gross B., Misrahi M., Sar S., Milgrom E. Composite structure of the human thyrotropin receptor gene. Biochem. Biophys. Res. Commun. 177: 679, 1991.
Sciacchitano S., Paliotta D.S., Nardi F., Sacchi A., Andreoli M., Pontecorvi A. PCR amplification and analysis of ras oncogene from thyroid cytologic smears. Diagn. Mol. Pathol. 3: 114, 1994
Matsuo K., Friedman E., Gejman P.V., Fagin J.A. The thyrotropin receptor (TSH-R) is not an oncogene for thyroid tumors: structural studies of the TSH-R and the α-subunit of Gs in human thyroid neoplasms. J. Clin. Endocrinol. Metab. 76: 1446, 1993.
Russo D., Arturi F., Wicker R., Chazenbalk G.D., Schlumberger M., DuVillard J.A.D., Caillou B., Monier R., Rapoport B., Filetti S. Genetic alterations in thyroid hyperfunctioning adenomas. J. Clin. Endocrinol. Metab. 80: 1347, 1995.
Porcellini A., Ciullo I., Laviola L., Amabile G., Fenzi G., Avvedimento V.E. Novel mutations of thyrotropin receptor in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy. J. Clin. Endocrinol. Metab. 79: 657, 1994.
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 diseases. J. Clin. Endocrinol. Metab. 80: 2577, 1995.
Strader C.D., Fong T.M., Tota M.R., Underwood D. Structure and function of G protein-coupled receptors. Annu. Rev. Biochem. 63: 101, 1994.
Lyons J., Landis C.A., Harsh G., Vallar L., Grunewald K., Feichtinger H., Duh QY., Clark O.H., Kawasaki E., Bourne H.R., McCormick F. Two G protein oncogenes in human endocrine tumors. Science 249: 655, 1990.
O’Sullivan C., Barton C.M., Staddon S.L., Brown C.L., Lemoine N.R. Activating point mutations of the gsp oncogene in human thyroid adenomas. Mol. Carcinogen. 4: 345, 1991.
Saïd S., Schlumberger M., Suarez H.G. Oncogenes and anti-oncogenes in human epithelial thyroid tumors. J. Endocrinol. Invest. 17: 37, 1994.
Parma J., Duprez L., Van Sande J., Cochaux P., Gervy G., Mockel J., Dumont J.E., Vassart G. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365: 649, 1993.
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 thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. J. Clin. Endocrinol. Metab. 79: 1785, 1994.
Takeshita A., Nagayama Y., Yokoyama N., Ishikawa N., Ito K., Yamashita T., Obara T., Murakami Y., Kuma K., Takamatsu J., Ohsawa N., Nagataki S. Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in Japan. J. Clin. Endocrinol. Metab. 80: 2607, 1995.
Parma J., Van Sande J., Swillens S., Tonacchera M., Dumont J.E., Vassart G. Somatic mutations causing constitutive activity of the Thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3′,5′-monophosphate and inositol phosphate-Ca2+ cascades. Mol. Endocrinol. 9: 725, 1995.
Russo D., Arturi F., Suarez H.G., Schlumberger M., DuVillard J.A.D., Crocetti U., Filetti S. Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas. J. Clin. Endocrinol. Metab. 81: 1548, 1996.
Duprez L., Parma J., Dumont J.E., Hermans J., Vassart G. Diversity and prevalence of somatic mutations in the TSH receptor gene as a cause of toxic adenoma. J. Endocrinol. Invest. 19(Suppl. 6): 69, 1996. (Abstract).
Michiels F., Caillou B., Talbot M., Dessarps-Freichey F., Maunaury M., Schlumberger M., Merken L., Monier R. Oncogenic potential of guanine nucleotide stimulatory factor a subunit in thyroid gland of transgenic mice. Proc. Natl. Acad. Sci. USA 91: 10488, 1994.
Morris J.C. Editorial: Activating mutations of the thyrotropin receptor — Unanswered questions. J. Clin. Endocrinol. Metab. 81: 2021, 1996.
Derwahl M. Editorial: TSH receptor and Gs-α gene mutations in the pathogenesis of toxic thyroid adenomas — A note of caution. J. Clin. Endocrinol. Metab. 81: 2783, 1996.
Hamburger J.I. The autonomously functioning thyroid nodule: Goetsch’s disease. Endocr. Rev. 8: 439, 1987.
Belfiore A., Sava L., Runello F., Tomaselli L., Vigneri R. Solitary autonomously functioning thyroid nodules and iodine deficiency. J. Clin. Endocrinol. Metab. 56: 283, 1983.
Chiovato L., Santini F., Pinchera A. Treatment of hyperthyroidism In: Hennemann G., Krenning E. (Eds.), Thyroid International. E. Merck, Darmstadt, 1995, Vol. 2, p. 18.
Duprez L., Parma J., Van Sande J., Allgeier A., Leclere J., Schvartz C., Delisle MJ., Decoulx M., Orgiazzi J., Dumont J.E., Vassart G. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat. Genet. 7: 396, 1994.
Tonacchera M., Van Sande J., Cetani F., Swillens S., Schvartz C., Winiszewski P., Portmann L., Dumont J.E., Vassart G., Parma J. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J. Clin. Endocrinol. Metab. 81: 547, 1996.
Kohler B., Biebermann H., Krohn H.P., Dralle D., Finke R., Gruters A. A novel germline mutation in the thyrotropin receptor (TSHR) gene causing nonautoimmune congenital hyperthyroidism. 10th International Congress of Endocrinology, San Francisco, USA. P2–946, 1996, (Abstract).
Kopp P., Van Sande J., Parma J., Duprez L., Gerber H., Joss E., Jameson J.L., Dumont J.E., Vassart G. Brief report: Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N. Engl. J. Med. 332: 150, 1995.
De Roux N., Polak M., Couet J., Leger J., Czernikow P., Milgrom E., Misrahi M. A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. J. Clin. Endocrinol. Metab. 81: 2023, 1996.
Holzapfel H.P., Wonerow P., Henshen M., Petrykowski W., Scherbaum W.A., Paschke R. Congenital nonautoimmune hyperthyroidism caused by a new sporadic germline mutation in the thyrotropin receptor gene. J. Endocrinol. Invest. 19(Suppl. 6): 25, 1996. (Abstract).
Esapa C.T., Betts P., Kendall-Taylor P., Harris P.E. A novel TSH receptor mutation in an infant with thyrotoxicosis. J. Endocrinol. Invest. 19(Suppl. 6): 71, 1996. (Abstract).
Derwahl M., Hamacher C., Russo D., Broecker M., Manole D., Schatz H., Kopp P., Filetti S. Constitutive activation of the Gs-α protein-adenylate cyclase pathway may not be sufficient to generate toxic thyroid adenomas. J. Clin. Endocrinol. Metab. 81: 1898, 1996.
Sunthornthepvarakul T., Gottschalk M.E., Hayashi Y., Refetoff S. Brief report: Resistance to thyrotropin caused by mutation in the thyrotropin receptor gene. N. Engl. J. Med. 332: 155, 1995.
Asteria C., Persani L., Romoli R., Beck-Peccoz P. Resistance to thyrotropin action resulting from inactivating mutation of thyrotropin receptor (TSH-R) gene. J. Endocrinol. Invest. 19(Suppl. 6). 26, 1996. (Abstract).
Biebermann H., Krude H., Thiede C., Kotulla P., Gruters A. Sporadic congenital hypothyroidism due to compound heterozygosity for two mutations of the coding sequence of the thyrotropin receptor gene. 10th International Congress of Endocrinology, San Francisco, USA. P2–954, 1996 (Abstract).
Clifton-Bligh R., Gregory J.W., John R., Chatterjee V.K.K. Resistance to thyrotropin caused by two novel mutations in the TSH receptor gene. J. Endocrinol. Invest. 19(Suppl. 6): 68, 1996. (Abstract).
Takeshita A., Nagayama Y., Yamashita S., Takamatsu J., Ohsawa N., Maesaka H, Tachibana K., Tokuhiro E., Ashizawa K., Yokoyama N., Nagataki S. Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness. Thyroid 4: 255, 1994.
Bohr U. R. M., Behr M., Loos U. A heritable point mutation in an extracellular domain of the TSH receptor involved in the interaction with Graves’ immunoglobulins. Biochim. Biophys. Acta 1216: 504, 1993.
Bahn R.S., Dutton C.M., Heufelder A.E., Sarkar G. A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves’ ophthalmopathy. J. Clin. Endocrinol. Metab. 78: 256, 1994.
Sunthornthepvarakul T., Hayasahi Y., Refetoff S. Polymorphism of a variant human thyrotropin receptor (hTSHR) gene. Thyroid 4: 147, 1994.
Cuddihy R.M., Dutton C.M., Bahn R.S. A polymorphism in the extracellular domain of the thyrotropin receptor is highly associated with autoimmune thyroid disease in females. Thyroid 5: 89, 1995.
Watson P.F., French A., Pickerill P., Mcintosh S., Weetman A.P. Lack of association between a polymorphism in the coding region of the thyrotropin receptor gene and Graves’ disease. J. Clin. Endocrinol. Metab. 80: 1032, 1995.
Heufelder A.E. Involvement of the orbital fibroblast and TSH receptor in the pathogenesis of Graves’ ophthalmopathy. Thyroid 5: 331, 1995.
Wu S.-L., Chang T.-J., Chang T.-J., Kuo Y.-F., Hsiao Y.-L., Chang C.-C. Cloning and sequencing of complete thyrotropin receptor transcripts in pretibial fibroblast culture cells. J. Endocrinol. Invest. 19: 365, 1996.
Paschke R., Vassart G., Ludgate M. Current evidence for and against the TSH receptor being the common antigen in Graves’ disease and thyroid associated ophthalmopathy. Clin. Endocrinol. 42: 565, 1995.
De Roux N., Shields D.C., Misrahi M., Ratanachaiyavong S., McGregor A.M., Milgrom E. Analysis of the tyrotropin receptor as a candidate gene in familial Graves’ disease. J. Clin. Endocrinol. Metab. 81: 3483, 1996.
Powis G. Signalling pathways as targets for anticancer drug development. Pharmacol. Ther. 62: 57, 1994
Wynford-Thomas D. Molecular genetics of thyroid cancer. Curr. Opin. Endocrinol. Diab. 2: 429, 1995.
Suarez H.G., duVillard J.A., Caillou B., Schlumberger M., Parmentier C., Monier R. GSP mutations in human thyroid tumours. Oncogene 6: 677, 1991.
Yoshimoto K., Iwahana H., Fukuda A., Sano T., Itakura M. Rare mutations of the Gs alpha subunit in human endocrine tumors. Cancer 72: 1386, 1993.
Horie H., Yokogoshi Y., Tsuyuguchi M., Saito S. Point mutations of ras and Gsα subunit genes in thyroid tumors. Jpn. J. Cancer Res. 86: 737, 1995.
Russo D., Arturi F., Schlumberger M., Caillou B., Monier R., Filetti S., Suarez H.G. Activating mutations of the TSH receptor in differentiated thyroid carcinomas. Oncogene 11: 1907, 1995.
Ohno M., Endo T., Ohta K, Gunji K., Onaya T. Point mutations in the thyrotropin receptor in human thyroid tumors. Thyroid 5: 97, 1995.
Russo D., Belfiore A., Tumino S., Arturi F., Pontecorvi A., Chiefari E., Grasso G., Pezzino V., Filetti S. A thyroid follicular cancer presenting as a hot nodule and hyperfunctioning because of an activating mutation of the TSH receptor. J. Endocrinol. Invest. 19(Suppl. 6): 71, 1996. (Abstract).
Uyttersprot N., Van Sande J., Dumont J.E. Editorial: Thyroid adenoma, Gsα expression and the cyclic adenosine monophosphate mitogenic cascade: a complex relationship. J. Clin. Endocrinol. Metab. 88: 1518, 1995.
Porcellini A., Tassi V., Ciullo I., Pannain S., Amabile G., Cisternino C., Di Cerbo A., Papini E., Avvedimento V.E., Fenzi G. Studies on the prevalence of TSH receptor mutations in a large series of consecutive hyperfunctioning thyroid adenomas. Thyroid 5(Suppl. 1): S–8, 1995. (Abstract).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Russo, D., Arturi, F., Chiefari, E. et al. Molecular insights into TSH receptor abnormality and thyroid disease. J Endocrinol Invest 20, 36–47 (1997). https://doi.org/10.1007/BF03347971
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF03347971