Pathology of the TSH receptor

Journal of Pediatric Endocrinology and Metabolism

Volumn 12, Issue SUPPL. 1, 1999, Pages 295-302

  Duprez, Laurence ^b   Parma, Jasmine ^b   Van Sande, Jacqueline ^b   Rodien, Patrice ^b   Sabine, Costagliola ^b   Abramowicz, Marc ^b   Dumont, Jacques E ^b   Vassart, Gilbert ^a  

^a FREE UNIVERSITY OF BRUSSELS   (Belgium)

^b NONE

Author keywords

Gain of function mutations; Hyperthyroidism; Hypothyroidism; Loss of function mutations; TSH receptor

Indexed keywords

THYROTROPIN; THYROTROPIN RECEPTOR;

CONFERENCE PAPER; GENE FUNCTION; GENE MUTATION; HORMONE RECEPTOR INTERACTION; HORMONE RESISTANCE; HYPERTHYROIDISM; HYPOTHYROIDISM; PATHOGENESIS; PHENOTYPE; RECEPTOR SENSITIVITY; THYROID HYPERPLASIA;

ADENOMA; GERM-LINE MUTATION; HUMANS; HYPERTHYROIDISM; HYPOTHYROIDISM; MUTATION; RECEPTORS, THYROTROPIN; THYROID NEOPLASMS;

EID: 0032998587     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (53)

1. Nagayama Y, Rapoport B. The thyrotropin receptor 25 years after its discovery: new insight after its molecular cloning. Mol Endocrinol 1992; 6: 145-156.
2. Vassart G, Dumont JE. The thyrotropin receptor and the regulation of thyrocyte function and growth. Endocr Rev 1992; 13: 596-611.
3. Helmreich EJM, Hofmann KP. Structure and function of proteins in G-protein-coupled signal transfer. Biochim Biophys Acta 1996; 1286: 285-322.
4. Parmentier M, Libert F, Maenhaut C, Lefort A, Gerard C, Perret J, Van Sande J, Dumont JE, Vassart G. Molecular cloning of the thyrotropin receptor. Science 1989; 246: 1620-1622.
5. Kobe B, Deisenhofer J. A structural basis of the interactions between the leucine-rich repeat and protein ligands. Nature 1995; 374: 183-186.
6. Kobe B, Deisenhofer J. Crystal structure of porcine ribonuclease inhibitor, a protein with leucine-rich repeats. Nature 1993; 366: 751-756.
7. Kajava AV, Vassart G, Wodak SJ. Modeling of the three-dimensional structure of proteins with the typical leucine-rich repeats. Structure 1995; 3: 867-877.
8. Gross B, Misrahi M, Sar S, Milgrom E. Composite structure of the human thyrotropin receptor gene. Biochem Biophys Res Comm 1991; 177: 679-687.
9. O'Dowd BF, Hnatowich M, Regan JW, Leader WM, Caron MG, Lefkowitz RJ. Site-directed mutagenesis of the cytoplasmic domains of the human beta 2-adrenergic receptor. Localization of regions involved in G protein-receptor coupling. J Biol Chem 1988; 263: 15985-15992.
10. Neer EJ. Heterotrimeric G proteins: organizers of transmembrane signals. Cell 1995; 80: 249-257.
11. Dumont JE, Lamy F, Roger P, Maenhaut C. Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factors. Physiol Rev 1992; 72: 667-697.
12. Roger P, Reuse S, Maenhaut C, Dumont JE. Multiple facets of the modulation of growth by cAMP. Vitam Horm 1995; 51: 59-191.
13. Dumont JE, Jauniaux JC, Roger PP. The cyclic AMP-mediated stimulation of cell proliferation. Trends Biochem Sci 1989; 14: 67-71.
14. Lyons J, Landis CA, Harsh G, Vallar L, Grunewald K, Feichtinger H, Duh QY, Clark OH, Kawasaki E, Bourne HR, McCormick F. Two G protein oncogenes in human endocrine tumors. Science 1990; 249: 655-659.
15. Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 1990; 322: 1412-1419.
16. Cotecchia S, Ostrowski J, Kjelsberg MA, Caron MG, Lefkowitz RJ. Discrete amino acid sequences of the alpha 1-adrenergic receptor determine the selectivity of coupling to phosphatidylinositol hydrolysis. J Biol Chem 1992; 267: 1633-1639.
17. Robbins LS, Nadeau JH, Johnson KR, Kelly MA, Roselli-Rehfuss L, Baack E, Mountjoy KG, Cone RD. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 1993; 72: 827-834.
18. Robinson PR, Cohen GB, Zhukovsky EA, Oprian DD. Constitutively active mutants of rhodopsin. Neuron 1992; 9: 719-725.
19. Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont J, Vassart G. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 1993; 365: 649-651.
20. Parma J, Duprez L, Van Sande J, Hermans J, Rocmans P, Dumont JE, Vassart G. Diversity and prevalence of somatic mutations in the TSH receptor and Gas genes as a cause of toxic thyroid adenomas. J Clin Endocrinol Metab 1997; 82: 2695-2701.
21. 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 1995; 80: 2607-2611.
22. Matsuo K, Friedman E, Gejman PV, Fagin JA. The thyrotropin receptor (TSH-R) is not an oncogene for thyroid tumors: structural studies of the TSH-R and the alpha-subunit of Gs in human thyroid neoplasms. J Clin Endocrinol Metab 1993; 76: 1446-1451.
23. Djuh YY, Galvin M, Rhooms P, Tuttle M, Guthrie VM, Burch HB. Screening for activating mutations of the human TSH-receptor in autonomously functioning thyroid nodules in a North American population. Thyroid 1996; 6 (Suppl): S-38 (abstr).
24. Esapa C, Foster S, Johnson S, Jameson JL, Kendall-Taylor P, Harris PE. G protein and thyrotropin receptor mutations in thyroid neoplasia. J Clin Endocrinol Metab 1997; 82: 493-496.
25. Russo D, Arturi F, Wicker R, Chazenbalk GD, Schlumberger M, Du Villard JA, Caillou B, Monier R, Rapoport B, Filetti S, Suarez HG. Genetic alterations in thyroid hyperfunctioning adenomas. J Clin Endocrinol Metab 1995; 80: 1347-1351.
26. Führer D, Holzapfel HP, Wonerow P, Scherbaum WA, Paschke R. Somatic mutations in the thyrotropin receptor gene and not in the Gsα protein gene in 31 toxic thyroid nodules. J Clin Endocrinol Metab 1997; 82: 3885-3891.
27. Porcellini A, Ciullo I, Laviola L, Amabile G, Fenzi G, Avvedimento VE. Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy. J Clin Endocrinol Metab 1994; 79: 657-661.
28. Porcellini A, Ciullo I, Pannain S, Fenzi G, Avvedimento E. Somatic mutations in the VI transmembrane segment of the thyrotropin receptor constitutively activate cAMP signalling in thyroid hyperfunctioning adenomas. Oncogene 1995; 11: 1089-1093.
29. Van Sande J, Parma J, Tonacchera M, Swillens S, Dumont J, Vassart G. Somatic and germline mutations of the TSH receptor gene in thyroid diseases. J Clin Endocrinol Metab 1995; 80: 2577-2585.
30. 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 1994; 79: 1785-1789.
31. Duprez L, Hermans J, Van Sande J, Dumont JE, Vassart G, Parma J. Two autonomous nodules of a patient with multinodular goiter harbor different activating mutations of the thyrotropin receptor gene. J Clin Endocrinol Metab 1997; 82: 306-308.
32. Paschke R, Fuehrer D, Holzapfel HP. Identification of different somatic thyrotropin receptor mutations in toxic multinodular goiter. J Endocrinol Invest 1996; 6 (Suppl): 28 (abstr).
33. Tonacchera M, Chiovato L, Pinchera A, Agretti P, Fiore E, Cetani F, Rocchi R, Viavaca P, Miccoli P, Vitti P. Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma. J Clin Endocrinol Metab 1998; 83: 492-498.
34. Thomas J-L, Leclère J, Hartemann P, Duheille J, Orgiazzi J, Petersen M, Janot C, Guedenet J-C. Familial hyperthyroidism without evidence of auto-immunity. Acta Endocrinol 1982; 100: 512-518.
35. Duprez L, Parma J, Van Sande J, Allgeier A, Leclere J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J, Vassart G. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 1994; 7: 396-401.
36. Führer D, Wonerow P, Willgerodt H, Paschke R. Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 1997; 82: 4234-4238.
37. Tonacchera M, Van Sande J, Cetani F, Swillens S, Schvartz C, Winiszewski P, Portmann L, Dumont JE, Vassart G, Parma J. Functional characteristics of three new germline mutations of the thyrotropin gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab 1996; 81: 547-554.
38. Kopp P, Van Sande J, Parma J, Duprez L, Gerber H, Joss E, Jameson JL, Dumont JE, Vassart G. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med 1995; 332: 150-154.
39. 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; 81: 2023-2026.
40. Holzapfel HP, Wonerow P, van Petrykowski W, Henschen M, Scherbaum WA, Paschke R. Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. J Clin Endocrinol Metab 1997; 82: 3879-3884.
41. Esapa CT, Betts P, Kendall-taylor P, Harris PE. A novel TSH receptor mutation in an infant with thyrotoxicosis. J Endocrinol Invest 1996; 6 (Suppl): 71.
42. Glinoer D. The regulation of thyroid function in pregnancy: pathways of endocrine adaptation from physiology to pathology. Endocr Rev 1997; 18: 404-433.
43. Rodien P, Brémont C, Raffin Sanson ML, Parma J, van Sande J, Costagliola S, Luton JP, Vassart G, Duprez L. Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin. N Engl J Med 1998; 339: 1823-1826.
44. Sunthornthepvarakul T, Gottschalk M, Hayashi Y, Refetoff S. Resistance to thyrotropin caused by mutations in the thyrotropin receptor gene. N Engl J Med 1995; 323: 155-160.
45. de Roux N, Misrahi M, Brauner R, Houang M, Carel JC, Granier M, Le Bouc Y, Ghinea N, Boumedienne A, Toublans JE and Milgrom E. Four families with loss of function mutations of the thyrotropin receptor. J Clin Endocrinol Metab 1996; 81: 4229-4235.
46. Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 1997; 99: 3018-3024.
47. Gagné N, Parma J, Deal C, Vassart G, Van Vliet G. Apparent congenital athyreosis constrating with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities? J Clin Endocrinol Metab 1998; 83: 1771-1775.
48. Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A. Congenital hypothyroidism caused by mutations in the thyrotropin-receptor gene. J Clin Endocrinol Metab 1997; 82: 3471-3480.
49. Clifton-Bligh R, Gregory JW, Ludgate M, John R, Persani L, Asteria C, Beck-Peccoz P, Chatterjee VKK. Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J Clin Endocrinol Metab 1997; 82: 1094-1100.
50. Xie J, Pannain S, Pohlenz J, Weiss RE, Moltz K, Morlot M, Asteria C, Persani L, Beck-Peccoz P, Parma J, Vassart G, Refetoff S. Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. J Clin Endocrinol Metab 1997; 82: 3933-3940.
51. Ahlbom BE, Yaqoob M, Larsson A, Ilicki A, Annerén G, Wadelius C. Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. Hum Genet 1997; 99: 186-190.
52. Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee K. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 1998; 19: 399-401.
53. Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Grüters A, Busslinger M, Di Lauro R. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998; 19: 83-86.