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

Molecular Endocrinology

Volumn 9, Issue 6, 1995, Pages 725-733

  Parma, Jasmine ^a   Van Sande, Jacqueline ^a   Swillens, Stephane ^a   Tonacchera, Massimo ^a   Dumont, Jacques ^a   Vassart, Gilbert ^a  

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; CYCLIC AMP; DIACYLGLYCEROL; INOSITOL PHOSPHATE; ISOLEUCINE; METHIONINE; PHENYLALANINE; THYROTROPIN; THYROTROPIN RECEPTOR;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CALCIUM TRANSPORT; CELL STRAIN COS1; CONTROLLED STUDY; GRAVES DISEASE; HYPERTHYROIDISM; NONHUMAN; NUCLEOTIDE SEQUENCE; PHOSPHOINOSITIDE METABOLISM; PRIORITY JOURNAL; SOMATIC MUTATION; THYROID ADENOMA;

ADENOMA; AMINO ACID SEQUENCE; ANIMAL; BASE SEQUENCE; CALCIUM; CELL LINE, TRANSFORMED; CERCOPITHECUS AETHIOPS; CYCLIC AMP; GENE EXPRESSION REGULATION, NEOPLASTIC; GRAVES' DISEASE; HYPERTHYROIDISM; INOSITOL PHOSPHATES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PHOSPHORIC DIESTER HYDROLASES; POINT MUTATION; PROTEIN CONFORMATION; RECEPTORS, THYROTROPIN; SIGNAL TRANSDUCTION; SUPPORT, NON-U.S. GOV'T; THYROID NEOPLASMS; TRANSFECTION;

EID: 0029044073     PISSN: 08888809     EISSN: 19449917     Source Type: Journal    
DOI: 10.1210/mend.9.6.8592518     Document Type: Article

References (34)

1. Dumont JE, Vassart G, Refetoff S 1989 Thyroid disorders. In: Scriver CR (ed) The Metabolic Basis of Inherited Diseases. McGraw-Hill, New York, pp 1843-1879
2. Dumont JE, Jauniaux JC, Roger PP 1989 The cyclic AMP-mediated stimulation of cell proliferation. Trends Biochem Sci 14:67-71
3. Lyons J, Landis CA, Harsh G, Vallar L, Grünewald K, Feichtinger H, Duh QY, Clark OH, Kawasaki E, Bourne HR, McCormick F 1990 Two G protein oncogenes in human endocrine tumors. Science 249:655-659
4. Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont JE, Vassart G 1993 Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365:649-651
5. Paschke R, Tonacchera M, Van Sande J, Parma J, Vas-sart G 1994 Identification and functional characterization of two new somatic mutations causing constitutive activation of the TSH receptor in hyperfunctioning autono-mous adenomas of the thyroid. J Clin Endocrinol Metab 79:1785-1789
6. Porcellini A, Ciullo I, Laviola L, Amabile A, Fenzi G, Avvedimento V 1994 Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. J Clin Endocrinol Metab 79:657-661
7. Duprez L, Parma J, Van Sande J, Allegeier A, Leclère J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont JE, Vassart G 1994 Germline mutations in the thyrotropin receptor gene cause non autoimmune autosomal dominant hyperthyroidism. Nat Genet 7:396-401
8. Thomas JS, Ledere J, Hartemann P, Duheille J, Orgiazzi J, Petersen M, Janot C, Guedenet JC 1982 Familial hy-perthyroidism without evidence of autoimmunity. Acta Endocrinol (Copenh) 100:512-518
9. Kopp P, Van Sande J, Parma J, Duprez L, Gerber H, Joss E, Jameson JL, Dumont JE, Vassart G 1995 Congenital non-autoimmune hyperthyroidism caused by a neomutation in the thyrotropin receptor gene. N Engl J Med 332:150-154
10. Laurent E, Mockel J, Van Sande J, Graff I, Dumont JE 1987 Dual activation by thyrotropin of the phospholipase C and cyclic AMP cascades in human thyroid. Mol Cell Endocrinol 52:273-278
11. Van Sande J, Raspe E, Perret J, Lejeune C, Maenhaut C, Vassart G, Dumont JE 1990 Thyrotropin activates both the cyclic AMP and the PIP2 cascades in CHO cells expressing the human cDNA of TSH receptor. Mol Cell Endocrinol 74:R1-R6
12. Libert F, Lefort A, Gerard C, Parmentier M, Perret J, Ludgate M, Dumont JE, Vassart G 1989 Cloning, se-quencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies. Bio-chem Biophys Res Commun 165:1250-1255
13. Kjelsberg MA, Cotecchia S, Ostrowski J, Caron MG, Lefkowitz RJ 1992 Constitutive activation of the α 1 B-adrenergic receptor by all amino acid substitutions at a single site. Evidence for a region which constrains receptor activation. J Biol Chem 267:1430-1433
14. Samama P, Cotecchia S, Costa T, Lefkowitz RJ 1993 A mutation-induced activated state of the beta 2-adrener-gic receptor. Extending the ternary complex model. J Biol Chem 268:4625-4636
15. Lefkowitz RJ, Cotecchia S, Samama P, Costa T 1994 Constitutive activity of receptors coupled to guanine nu-cleotide regulatory proteins. Trends Pharmacol Sci 14: 303-307
16. Shenker A, Laue L, Kosugi S, Merendino JJ, Minegishi T, Cutler GB 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365:652-654
17. Robinson PR, Cohen GB, Zhukovsky EA, Oprian DD 1992 Constitutively active mutants of rhodopsin. Neuron 9:719-725
18. Tiberi M, Caron MG 1994 High agonist-independent ac-tivity is a distinguishing feature of the dopamine D1B receptor subtype. J Biol Chem 269:27925-27931
19. Nagayama Y, Rapoport B 1992 The thyrotropin receptor 25 years after its discovery: new insight after its molecular cloning. Mol Endocrinol 6:145-156
20. Segaloff DL, Ascoli M 1993 The lutropin/choriogonado-tropin receptor… 4 years later. Endocr Rev 14:324-347
21. Ji I, Ji T 1991 Human choriogonadotrophin binds to a lutropin receptor with essentially no N-terminal extension and stimulates cAMP synthesis. J Biol Chem 266:1306-1309
22. Ji I, Ji T 1995 Receptor activation is distinct from hormone binding in intact lutropin-choriogonadotropin receptors and Asp397 is important for receptor activation. J Biol Chem 268:20851-20854
23. Kosugi S, Okajima F, Ban T, Hidaka A, Shenker A, Kohn L 1992 Mutation of Alanine 623 in the third cytoplasmic loop of the rat TSH receptor results in a loss in the phosphoinositide but not cAMP signal induced by TSH and receptor autoantibodies. J Biol Chem 267:24153-24156
24. 2+ cascades in mediating the effects of thyrotropin and iodide on hormone synthesis and secretion in human thyroid slices. J Clin Endocrinol Metab 79:152-159
25. O’Sullivan C, Barton CM, Staddon SL, Brown CL, Lemoine NR 1991 Activating point mutations of the gsp on-cogene in human thyroid adenomas. Mol Carcinog 4:345-349
26. Suarez HG, du Villard JA, Caillou B, Schlumberger M, Parmentier C, Monier R 1991 gsp mutations in human thyroid tumours. Oncogene 6:677-679
27. Kremer H, Mariman E, Otten BJ, Moll GWJ, Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH, Brunner HG 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Hum Mol Genet 2:1779-1783
28. Rao VR, Cohen GB, Oprian DD 1994 Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature 367:639-642
29. 2+-sensing receptor gene mutation. Nat Genet 8:303-307
30. Kosugi S, Okajima F, Ban T, Hidaka A, Shenker A, Kohn LD 1994 Substitutions of different regions of the third cytoplasmic loop of the TSH receptor have selective effects on constitutive, TSH-, and TSH receptor autoantibody-stimulated phosphoinositide and cAMP signal generation. Mol Endocrinol 7:1009-1020
31. Brooker G, Harper JF, Terasaki WL, Moylan RD 1979 Radioimmunoassy of cyclic AMP and cyclic GMP. Adv Cyclic Nucl Res 10:1-33
32. Berridge MJ 1983 Rapid accumulation of inositol trisphosphate reveals that agonists hydrolyse polyphos-phoinositides instead of phosphatidylinositol. Biochem J 212:849-858
33. Chazenbalk GD, Nagayama Y, Kaufman KD, Rapoport B 1990 The functional expression of recombinant human thyrotropin receptors in nonthyroidal eukaryotic cells provides evidence that homologous desensitization to thyrotropin stimulation requires a cell-specific factor. Endocrinology 127:1240-1244
34. Rapoport B, Seto P 1985 Bovine thyrotropin has a specific bioactivity 5-to 10-fold that of previous estimates for highly purified hormone. Endocrinology 116:1379-1382