Mutations of thyrotropin receptor gene

Journal of Molecular Medicine

Volumn 75, Issue 8, 1997, Pages 567-575

  Porcellini, Antonio ^a,b,c   Fenzi, Gianfranco ^a   Avvedimento, Enrico V ^a,b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

^c Natl Cancer Inst Fondazione P

Author keywords

cAMP signaling; G proteins; Thyroid; Thyrotropin; TSH receptor

Indexed keywords

CYCLIC AMP; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN; THYROTROPIN; THYROTROPIN RECEPTOR;

GENE MUTATION; HORMONE ACTION; HUMAN; HYPERTHYROIDISM; RECEPTOR GENE; REVIEW; SIGNAL TRANSDUCTION; THYROID ADENOMA;

ADENOMA; AMINO ACID SEQUENCE; CYCLIC AMP; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; GTP-BINDING PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTORS, THYROTROPIN; SIGNAL TRANSDUCTION; THYROID NEOPLASMS;

EID: 0030771386     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001090050141     Document Type: Review

References (66)

1. Degroot LJ, Larsen PR, Refetoff S, Stanbury JB (1984) The thyroid and its diseases. Wiley, New York
2. Larsen PR, Ingbar SH (1992) The Thyroid Gland. In: Wilson JD, Foster DW (eds) Texbook of endocrinology. Saunders, Philadelphia, pp 357-487
3. Feliciello A, Porcellini A, Ciullo I, Bonavolonta G, Avvedimento EV, Fenzi G (1993) Expression of thyrotropin-receptor mRNA in healthy and Graves' disease retro-orbital tissue. Lancet 342:337-338
4. Endo T, Ohta K, Haraguchi K, Onaya T (1995) Cloning and functional expression of a thyrotropin receptor cDNA from rat fat cells. J Biol Chem 270:10833-10837
5. Paschke R, Metcalfe A, Alcalde L, Vassart G, Weetman A, Ludgate M (1994) Presence of nonfunctional thyrotropin receptor variant transcripts in retroocular and other tissues. J Clin Endocrinol Metab 79:1234-1238
6. Mengistu M, Lukes YG, Nagy EV, Burch HB, Carr FE, Lahiri S, Burman KD (1994) TSH receptor gene expression in retroocular fibroblasts. J Endocrinol Invest 17:437-441
7. Heufelder AE, Dutton CM, Sarkar G, Donovan KA, Bahn RS (1993) Detection of TSH receptor RNA in cultured fibroblasts from patients with Graves' ophthalmopathy and pretibial dermopathy. Thyroid 3:297-300
8. Endo T, Ohno M, Kotani S, Gunji K, Onaya T (1993) Thyrotropin receptor in non-thyroid tissues. Biochem Biophys Res Commun 190:774-749
9. Francis T, Burch HB, Cai WY, Lukes Y, Peele M, Carr FE, Wartofsky L, Burman KD (1991) Lymphocytes express thyrotropin receptor-specific mRNA as detected by the PCR technique. Thyroid 1:223-228
10. Thorpe-Beeston JG, Nicolaides KH, Felton CV, Butler J, McGregor AM (1991) Maturation of the receptor of thyroid hormones and thyroid stimulating hormone in the fetus. N Engl J Med 324:532-536
11. Kraien Z, Sadeh O, Blithe DL, Nisula BC (1994) Human chorionic gonadotropin stimulates thyroid hormone secretion, iodide upatake, organification and adenosine 3′,5′ monophosphate formation in cultured human thyrocytes. J Clin Endocrinol Metab 79:595-599
12. Hershman JM (1992) Role of human chorionic gonadoptropin as thyroid stimulator J Clin Endocrinol Metab 74:258-251
13. Gerard CM, Lefort A, Christophe D, Libert F, Van Sande J, Dumont JE, Vassart G (1989) Control of thyroperoxidase and thyroglobulin transcription by cAMP: evidence for distinct regulatory mechanisms. Mol Endocrinol 3:2110-2118
14. Avvedimento VE, Tramontano D, Ursini MV, Monticelli A, Di Lauro R (1984). The level of thyroglobulin mRNA is regulated by TSH both in vivo and in vitro. Biochem Biophys Res Commun 122:472-477
15. Tramontano D, Ingbar SH (1986) Properties and regulation of thyrotropin receptor in FRTL-5 rat thyroid cell line. Endocrinology 118:1945-1951
16. Lapthorn AJ, Harris DC, Littlejohn A, Lusthader JW, Canfield RK, Machin KJ, Morgan FJ, Isaacs NW (1995) Crystal structure of human chorionic gonadotropin. Nature 369:455-461
17. Baldwin JM (1993) The probable arrangement of the helices in G protein-coupled receptors. EMBO J 12:1693-1703
18. Strader CD, Long TM, Tola MR, Underwood D, Dixon RAF (1994) Structure and function of G protein-coupled receptors. Annu Rev Biochem 63:101-132
19. Donnelly D, Findlay JBC, Blundell TL (1994) The evolution and structure of aminergic G protein-coupled receptors. Recept Channels 2:61-78
20. Guderman T, Nurnberg B, Schulz G (1995) Receptors and G proteins as primary components of transmembrane signal transduction. J Mol Med 73:51-63
21. Clapman DE, Neer EJ (1993) New roles for G-protein beta-gamma dimers in transmembrane signalling. Nature 365:403-407
22. Noel JP, Hamm HL, Sigler PB (1993) The 2.2 Å crystal structure of transducin-complexed with GTPS. Nature 366:654-663
23. Bourne R (1993) A turn-on and a surprise. Nature 366:628-629
24. Van Dop C, Tsubokawa M, Bourne HR, Ramachandran J (1984) Amino acid sequence of retinal transducin at the site ADP-ribosylated by cholera toxin. J Biol Chem 259:696-698
25. Lundis CA, Masters SB, Spada A, Pace AM, Bourne HR, Vallar L (1989) GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature 340:692-696
26. Lyons J, Lundis CA, Harsh G, Vallar L, Grunewald K, Feichtinger H, Duh QY, Clark OH, Kawasaki L, Bourne HR et al (1990) Two G protein oncogenes in human endocrine tumours. Science 249:655-659
27. Suarez HG, du Villard JA, Caillou B, Schlumberger M, Parmentier C, Monier R (1991) Gsp mutations in human thyroid tumours. Oncogene 6:677-679
28. Laugwitz KL, Allgeier A, Offermanns S, Spicher K, Van Sande J, Dumont JE, Schultz G (1996) The human thyrotropin receptor: a heptahelical receptor capable of stimulating members of all four G protein families. Proc Natl Acad Sci USA 93:116-120
29. Edelman AM, Blumenthal DK, Krebs EG (1987) Protein serine/threonine kinases. Annu Rev Biochem 56:567-613
30. Beebe SJ, Corbin, JD (1986) Cyclic nucleotide-dependent protein kinases. In: Boyer PD Krebs EG (eds) The enzymes, vol 17. Academic, Orlando, pp 43-111
31. Erlichman J, Sarkar D, Fleischer N Rubin CS (1980) Identification of two subclasses of type II cAMP-dependent protein kinases. J Biol Chem 255:8179-8184
32. Rios RM, Celati C, Lohmann SM, Bornens M, Keryer G (1992) Identification of a high affinity binding protein for the regulatory subunit RIIβ of cyclic AMP-dependent protein kinase in golgi enriched membranes of human lymphoblasts. EMBO 11:1723-1731
33. Scott JD, Mc Cartney S (1994) Localization of A-kinase through anchoring proteins. Mol Endocrinol 8:5-11
34. Hofmann F, Beavo JA, Bechtel PJ, Krebs LG (1975) Comparison of adenosine 3′-5′ monophosphate-dependent protein kinase from rabbit skeletal and bovine heart muscle. J Biol Chem 250:7795-7801
35. Gonzalez GA, Montimy MR (1989) Cyclic AMP stimulates somatostatin gene transcription by phosphorylation of CREB at serine 133. Cell 59:675-680
36. Gonzalez GA, Yamamoto KK, Fisher WH, Karr D, Menzel P, Biggs III W, Vale WW, Montminy MR (1989) A cluster of phosphorylation sites on the cAMP regulated nuclear factor CREB predicted by its sequence. Nature 337:749-752
37. Nigg LA, Hiltz HM, Eppenberger HM, Dutly F (1985) Nuclear translocation of cAMP-dependent protein kinase catalytic subunit. EMBO J 4:2801-2806
38. Hagiwara M, Brindle P, Harootunian AT, Armstrong R, Rivier J, Vale WW, Tsien RY, Montminy MR (1993) Coupling of hormonal stimulation and transcription via the cAMP responsive factor CREB is rate-limited by nuclear entry of protein kinase A. Mol Cell Biol 13:4852-4859
39. Gallo A, Benusiglio E, Bonapace IM, Feliciello A, Cassano S, Ciarbi C, Musti AM, Gottesman ME, Avvedimento VE (1992) V-RAS PKC dedifferentiate thyroid cells by downregulating nuclear cAMP dependent protein kinase A. Gen Dev 6:1621-1630
40. Kwok RP, Lundblad JR, Chrivia JC, Richards JP, Bachinger HP, Brennan RG, Roberts SG, Green MR, Goodman RH (1994) Nuclear protein CBP is a coactivator for the transcription factor CREB. Nature 370:223-226
41. Arany Z, Newsome D, Oldread E, Livingstone DM, Eckner R (1995) A family of transcriptional adaptor proteins targeted by the E1 A oncoprotein. Nature 374:81-84
42. Zannini M, Francis-Lang H, Plachov D, Di Lauro R (1992) Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters. Mol Cell Biol 12:4230-4241
43. Saji M, Akamizu T, Sanchez M, Obici S, Avvedimento E, Gottesman ME Kohn LD (1992) Regulation of thyrotropin gene expression in rat FRTL-5 thyroid cells. Endocrinology 130: 520-533
44. Saiardi A, Falasca P, Civilareale D (1995) Synergistic transcriptional activation of the thyrotropin receptor promoter by cyclic AMP-responsive-element-binding protein and thyroid transcription factor 1. Biochem J 310:491-6
45. Dremier S, Gollstein J, Mosselmans R, Dumont JE, Galand P, Robaye B (1994) Apoptosis in dog thyroid cells. Biochem Biophys Res Commun 200:52-58
46. Maenhaut C, Roger PP, Reuse S, Dumont JE (1991) Activation of the cyclic AMP cascade as an oncogenic mechanism: the thyroid example. Biochimie 73:29-36
47. Lauberg P, Pedersen KM, Vestergaard H, Sigurdsson G (1991) High incidence of multinodular toxic goitre in the elderly population in a low iodine intake areas versus higher incidence of Graves' disease in the young in a high iodine intake area: comparative surveys of thyrotoxicosis epidemiology in East-Jutland, Denmark and Iceland. J Intern Med 229:415-420
48. 2+ cascades. Mol Endocrinol 9:725733
49. Parma J, Duprez L, Van Sande J et al (1993) Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365:649-651
50. Porcellini A, Ciullo I, Laviolu L, Amabile G, Fenzi GF, Avvedimento VE (1994) Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenimas. Rapid identification by fine needle aspiration biopsy. J Clin Endocrinol Metab 79:657-661
51. Porcellini A, Ciullo I, Pannain S, Fenzi GF, Avvedimento VE (1995) Somatic mutations in the VI transmembrane segment of the thyrotropin receptor constitutively activate cAMP signalling in thyroid hyperfunctioning adenomas. Oncogene 11: 1089-1093
52. Paschke R, Tonacchera M, Van Sande J, Parma J, Vassart G (1994) 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 79:1785-1789
53. Lefkowitz RJ, Cotecchia S, Samama P, Costa T (1993) Constitutive activity of receptors coupled to guanine nucleotide regulatory proteins. Trends Pharmacol Sci 14:303-307
54. Leaowitz RJ (1993) Turned on to ill effect. Nature 365: 603-604
55. Laurent E, Mockel J, Van Sande J, Graff I, Dumont JE (1987) Dual activation by thyrotropin of the phospholipase C and cAMP cascades in human thyroid. Mol Cell Endocrinol 52: 273-278
56. Duprez L, Parma J, Van Sande J, Allgeier A, Leclere J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J et al (1994) Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 7:396-401
57. Kopp P, Van Sande J, Parma J, Duprez L, Gerber H, Joss K, Jameson JL, Dumont JE, Vassart G (1995) Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med 332:150-154
58. Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, Refetoff S (1995) Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med 332:155-160
59. Gu WX, Du GG, Kopp P, Rentoumis A, Albanese C, Kohn LD, Madison LD , Jameson JL (1995) The thyrotropin (TSH) receptor transmembrane domain mutation (Pro556-Leu) in the hypothyroid hyt/hyt mouse results in plasma membrane targeting but defective TSH binding. Endocrinology 136:3146-3153
60. Weetman AP (1991) Thyroid-associated eye disease: pathophysiology. Lancet 338:25-28
61. Bohr UR, Behr M, Loos U (1993) A heritable point mutation in an extracellular domain of the TSH receptor involved in the interaction with Graves' immunoglobulins. Biochim Biophys Acta 1216:504-508
62. Loos U, Hagner S, Bohr UR, Bogatkewitsch GS, Jakobs KH, Van Koppen CJ (1995) Enhanced cAMP accumulation by the human thyrotropin receptor variant with the Pro52Th substitution in the extracellular domain. Eur J Biochem 232:62-65
63. Heldin NE, Gustavsson B, Westermark K, Westermark B (1991) A somatic point mutation in a putative ligand binding domain of the TSH receptor in a patient with autoimmune hyperthyroidism. J Clin Endocrinol Metab 73:1374-1376
64. Ahmad MF, Stenszky V, Juhazs F, Balazs G, Farid NR (1994) No mutations in the translated region of exon 1 in the TSH receptor in Graves' thyroid glands. Thyroid 4:151-153
65. Kopp P, Aeschimann S, Asmis L, Tobler A, Fey MF, Studer H (1994) Polyclonal and clonal nodules may coexist within multinodular goiter. J Clin Endocrinol Metab 79:134-139
66. kip1) of cyclin-dependent kinase 4 activation. Cell 79: 487-496