Somatic mutations of the thyroid-stimulating hormone receptor gene in feline hyperthyroidism: Parallels with human hyperthyroidism

Journal of Endocrinology

Volumn 186, Issue 3, 2005, Pages 523-537

  Watson, S G ^a   Radford, A D ^a   Kipar, A ^a   Ibarrola, P ^a   Blackwood, L ^a  

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; ASPARTIC ACID; GENOMIC DNA; GLYCINE; HISTIDINE; LEUCINE; METHIONINE; PHENYLALANINE; THREONINE; THYROTROPIN RECEPTOR; TYROSINE; VALINE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CAT DISEASE; CONTROLLED STUDY; EXON; FEMALE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HUMAN; HYPERTHYROIDISM; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SOMATIC MUTATION;

ANIMALS; BASE SEQUENCE; CAT DISEASES; CATS; CATTLE; CONSENSUS SEQUENCE; DNA MUTATIONAL ANALYSIS; DOGS; EXONS; GOITER, NODULAR; HAPLORHINI; HUMANS; HYPERTHYROIDISM; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; RATS; RECEPTORS, THYROTROPIN; SEQUENCE ALIGNMENT; SHEEP; SWINE;

EID: 26044433624     PISSN: 00220795     EISSN: None     Source Type: Journal    
DOI: 10.1677/joe.1.06277     Document Type: Article

References (59)

1. Biebermann H, Schoneberg T, Krude H, Gudermann T & Gruters A 2000 Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood. Langenbeck's Archives of Surgery 385 390-392.
2. Capen CC 2002 Tumor, hyperplasia and cysts of thyroid follicular cells. In Tumors in Domestic Animals, 4th edn, pp 638-650. Ed DJ Meuten. Ames, IO: Iowa State Press.
3. Corvilain B, Sande JV, Dumont JE & Vassart G 2001 Somatic and germline mutations of the TSH receptor and thyroid diseases. Clinical Endocrinology 55 143-158.
4. De Roux N, Polak M, Couet J, Leger J, Czemichow P, Milgrom E & Misrahi M 1996 A Neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. Journal of Clinical Endocrinology and Metabolism 81 2023-2026.
5. Deveraux J, Haeberli P & Smithies O 1984 A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Research 12 387-395.
6. 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. Nature Genetics 7 396-401.
7. Duprez L, Hermans J, Van Sande J, Dumont JE, Vassart G & Parma J 1997a Two autonomous nodules of a patient with multinodular goiter harbor different activating mutations of the thyrotropin receptor gene. Journal of Clinical Endocrinology and Metabolism 82 306-308.
8. Duprez L, Parma J, Costagliolo S, Herman J, Van Sande J, Dumont JE & Vassart G 1997b Constitutive activation of the TSH receptor by spontaneous mutations affecting the N-terminal extracellular domain. FEBS Letters 409 469-474.
9. Du Villard JA, Schlumberger M, Wicker R, Caillou B, Rochefort P, Feunteun J, Monier R, Parmentier C & Suarez HG 1995 Role of ras and gsp oncogenes in human epithelial thyroid tumorigenesis. Journal of Endocrinological Investigation 18 124-126
10. Ferguson DC & Peterson ME 1990 In search of a cause for feline hyperthyroidism. Proceedings of 8th American College of Veterinary Internal Medicine (ACVIM) Forum 311 765-768.
11. Fuhrer D, Holzapfel HP, Wonerow P & Paschke R 1996 Constitutively activating mutations of the thyrotropin receptor and thyroid disease. European Journal of Medical Research 1 460-464.
12. sα protein gene in 31 toxic thyroid nodules. Journal of Clinical Endocrinology and Metabolism 82 3885-3891.
13. Fuhrer D, Mix M, Wonerow P, Richter I, Willgerodt H & Paschke R 1999 Variable phenotype associated with Ser505 Asn-activating thyrotropin-receptor germline mutation. Thyroid 9 757-761.
14. Fuhrer D, Tannapfel A, Sabri O, Lamesch P & Paschke R 2003 Two somatic TSH receptor mutations in a patient with toxic metastasising follicular thyroid carcinoma and non-functional lung metastases. Endocrine-related Cancer 10 591-600.
15. Georgopoulos NA, Sykiotis GP, Sgourou A, Papachatzopoulou A, Markou KB, Kyriazopoulou V, Papavassiliou AG & Vagenakis AG 2003 Autonomously functioning thyroid nodules in a former iodine-deficient area commonly harbor gain-of-function mutations in the thyrotropin signaling pathway. European Journal of Endocrinology 149 287-292.
16. Gruters A, Schoneberg T, Biebermann H, Krude H, Krohn HP, Dralle H & Gudermann T 1998 Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor. Journal of Clinical Endocrinology and Metabolism 83 1431-1436.
17. Hegedus L 2004 The thyroid nodule. New England Journal of Medicine 351 1764-1771.
18. Hoenig M, Goldschmidt MH, Ferguson DC, Koch K & Eymontt MJ 1982 Toxic nodular goitre in the cat. Journal of Small Animal Practice 23 1-12.
19. Holzapfel HP, Fuhrer D, Wonerow P, Weinland G, Scherbaum WA & Pashke R 1997a Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters. Journal of Clinical Endocrinology and Metabolism 82 4229-4233.
20. Holzapfel HP, Wonerow P, Von Petrykowski W, Henschen M, Scherbaum WA & Paschke R 1997b Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. Journal of Clinical Endocrinology and Metabolism 82 3879-3884.
21. Holzworth J, Theran P, Carpenter JL, Harpster NK & Todoroff RJ 1980 Hyperthyroidism in the cat: ten cases. Journal of American Veterinary Medical Association 276 345-353.
22. Kopp P 2001 The TSH receptor and its role in thyroid disease. Cellular and Molecular Life Sciences 58 1301-1322.
23. Kopp P, Jameson JL & Roe TF 1997a Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene. Thyroid 7 765-770.
24. Kopp P, Muirhead S, Jourdain N, Gu WX, Jameson JL & Rodd C 1997b Congenital hyperthyroidism caused by a solitary toxic adenoma harbouring a novel somatic mutation (serine 281-isoleucine) in the extracellular domain of the thyrotropin receptor. Journal of Clinical Investigation 100 1634-1639.
25. Kosugi S, Shenker A & Mori T 1994 Constitutive activation of cyclic AMP but not phosphatidylinositol signalling caused by four mutations in the transmembrane helix of the human thyrotropin receptor. FEBS Letters 356 291-294.
26. Lavard L, Sehested A, Brock Jacobsen B, Muller J, Perrild H, Feldt-Rasmussen U, Parma J & Vassart G 1999 Long-term follow-up of an infant with thyrotoxicosis due to germline mutation of the TSH receptor gene (Met453 Thr). Hormone Research 51 43-46.
27. Leav I, Schiller AL, Rijnberk A, Legg MA & Der Kinderen PJ 1976 Adenomas and carcinomas of the canine and feline thyroid. American Journal of Pathology 83 61-122.
28. Lyons J, Landis CA, Harsh G, Vallar L, Grunewald K, Feichtinger H, Duh QY, Clark OH, Kawasaki E, Bourne HR et al. 1990 Two G protein oncogenes in human endocrine tumors. Science 249 655-659.
29. Mircescu H, Parma J, Huot C, Deal C, Oligny LL, Vassart G & Van Vliet G 2000 Hyperfunctioning malignant thyroid nodule in an 11-year old girl: pathologic and molecular studies. Journal of Pediatrics 137 585-587.
30. Murakami M, Kamiya Y, Yanagita Y & Masatomo M 1999 Gsα mutations in hyperfunctioning thyroid adenomas. Archives of Medical Research 30 514-521.
31. Nguyen LQ, Arseven OK, Gerber H, Stein BS, Jameson JL & Kopp P 2002 Cloning of the cat TSH receptor and evidence against an autoimmuno etiology of feline hyperthyroidism. Endocrinology 143 395-402.
32. O'Sullivan C, Barton CM, Staddon SL, Brown CL & Lemoine NR 1991 Activating point mutations of the gsp oncogene in human thyroid adenomas. Molecular Carcinogenesis 4 345-349.
33. Pacini F, Burroni L, Ciuoli C, Cairano GD & Guarino E 2004 Management of thyroid nodules: a clinicopathological evidence-based approach. European Journal of Nuclear Medicine and Molecular Imaging 31 1443-1449.
34. sα genes as a cause of toxic thyroid adenomas. Journal of Clinical Endocrinology and Metabolism 82 2695-2701.
35. 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. Journal of Clinical Endocrinology and Metabolism 79 1785-1789.
36. Pearce SHS, Foster DJ, Imrie H, Myerscough N, Beckett GJ, Thoday KL & Kendall-Taylor P 1997 Mutational analysis of the thyrotropin receptor gene in sporadic and familial feline thyrotoxicosis. Thyroid 7 923-927.
37. sα gene and not with polymorphisms found in the thyrotropin receptor. Thyroid 12 571-575.
38. Peter HJ, Gerber H, Studer H & Smeds S 1985 Pathogenesis of heterogeneity in human multinodular goiter. A study on growth and function of thyroid tissue transplanted onto nude mice. Journal of Clinical Investigation 76 1992-2002.
39. Peterson ME & Becker DV 1983 Spontaneous hyperthyroidism in the cat: an animal model for toxic nodular goitre. Proceedings of the American Thyroid Association's 59th Meeting T-31 (abstract).
40. Peterson ME, Randolph JF & Mooney CT 1994 Endocrine diseases. In The Cat - Diseases and Clinical Management, 2nd edn, pp 1403-1506. Ed RG Sherding. New York: Churchill Livingstone.
41. Porcellini A, Ciullo I, Laviola L, Amabile G, Fenzi G & Avvedimento VE 1994 Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Journal of Clinical Endocrinology and Metabolism 79 657-661.
42. Porcellini A, Ciullo I, Pannain S, Fenzi G & Avvedimento E 1995 Somatic mutations in the VI transmembrane segment of the thyrotropin receptor constitutively activate cAMP signalling in the thyroid hyperfunctioning adenomas. Oncogene 11 1089-1093.
43. Porcellini A, Ruggiano G, Pannain S, Ciullo I, Amabile G, Fenzi G & Avvedimento EV 1997 Mutations of thyrotropin receptor isolated from thyroid autonomous functioning adenomas confer TSH-independent growth to thyroid cells. Oncogene 15 781-789.
44. Russo D, Arturi F, Wicker R, Chazenbalk GD, Schlumberger M, Du Villard JAD, Caillou B, Monier R, Raport B, Filetti S & Suarez HG 1995 Genetic alterations in thyroid hyperfunctioning adenoma. Journal of Clinical Endocrinology and Metabolism 80 1347-1351.
45. Russo D, Arturi F, Suarez HG, Schlumberger M, Du Villard JA, Crocetti U & Filetti S 1996 Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas. Journal of Clinical Endocrinology and Metabolism 81 1548-1551.
46. Russo D, Tumino S, Arturi F, Vigneri P, Grasso G, Pontecorvi A, Filetti S & Belfiore A 1997 Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma. Journal of Clinical Endocrinology and Metabolism 82 735-738.
47. sα in human thyroid cancers: Low prevalence of mutations predicts infrequent involvement in malignant transformation. Journal of Clinical Endocrinology and Metabolism 81 3898-3901.
48. Syrenicz A, Kurzawski G & Ciechanowicz A 1999 The detection of somatic mutations of thyrotropin receptor gene in fine needle biopsy samples from thyroid nodules. Endocrine Regulations 33 95-101.
49. Thoday KL & Mooney CT 1992 Historical, clinical and laboratory features of 126 hyperthyroid cats. The Veterinary Record 131 257-264.
50. Tonacchera M, Van Sande J, Cetani F, Swillens S, Schvartz C, Winiszewski P, Portmann L, Dumont JE, Vassart G & Parma J 1996 Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. Journal of Clinical Endocrinology and Metabolism 81 547-554.
51. Tonacchera M, Vitti P, Agretti P, Giulianetti B, Mazzi B, Cavaliere R, Ceccarini G, Fiore E, Viacava P, Naccarato A et al. 1998a Activating thyrotropin receptor mutations in histologically heterogeneous hyperfunctioning nodules of multinodular goiter. Thyroid 8 559-564.
52. Tonacchera M, Chiovato L, Pinchera A, Agretti P, Fiore E, Cetani F, Rocchi R, Viacava P, Miccoli P & Vitti P 1998b Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma. Journal of Clinical Endocrinology and Metabolism 83 492-498.
53. Tonacchera M, Vitti P, Agretti P, Ceccarini G, Perri A, Cavaliere R, Mazzi B, Naccarato AG, Viacava P, Miccoli P et al. 1999 Functioning and nonfunctioning thyroid adenomas involve different molecular pathogenetic mechanisms. Journal of Clinical Endocrinology and Metabolism 84 4155-4158.
54. Tonacchera M, Agretti P, Chiovato L, Rosellini V, Ceccarini G, Perri A, Viacava P, Naccarato AG, Miccoli P, Pinchera A et al. 2000 Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter. Journal of Clinical Endocrinology and Metabolism 85 2270-2274.
55. sα mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis. Journal of Molecular Medicine 78 684-691.
56. Van Sande J, Parma J, Tonacchera M, Swillens S, Dumont J & Vassart G 1995 Somatic and germline mutations of the TSH receptor gene in thyroid diseases. Journal of Clinical Endocrinology and Metabolism 80 2577-2585.
57. Vanvooren V, Uchino S, Duprez L, Costa MJ, Vandekerckhove J, Parma J, Vassart G, Dumont JE, Van Sande J & Noguchi S 2002 Oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in the Japanese population. European Journal of Endocrinology 147 287-291.
58. Wonerow P, Chey S, Fuhrer D, Holzapfel HP & Paschke R 2000 Functional characterization of five constitutively activating thytotropin receptor mutations. Clinical Endocrinology 53 461-468.
59. Yen PM 2000 Thyrotropin receptor mutations in thyroid diseases. Reviews in Endocrine and Metabolic Disorders 1 123-129.