A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism

Thyroid

Volumn 16, Issue 5, 2006, Pages 505-512

  Nwosu, Benjamin U ^a   Gourgiotis, Loukas ^b   Gershengorn, Marvin C ^b   Neumann, Susanne ^b  

^a UNIVERSITY OF MASSACHUSETTS   (United States)

^b NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; THYROTROPIN RECEPTOR; THYROXINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOIMMUNITY; CASE REPORT; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GERM LINE; HEAT INTOLERANCE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERTHYROIDISM; MULTIGENE FAMILY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECEPTOR GENE; TSHR GENE;

ADOLESCENT; BASE SEQUENCE; CELL LINE; CYCLIC AMP; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; HYPERTHYROIDISM; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, THYROTROPIN;

EID: 33745212044     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2006.16.505     Document Type: Article

References (41)

1. 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.
2. Corvilain B, Van Sande J, Dumont JE, Vassart G 2001 Somatic and germline mutations of the TSH receptor and thyroid diseases. Clin Endocrinol (Oxf) 55:143-158.
3. Paschke R, Ludgate M 1997 The thyrotropin receptor in thyroid diseases. N Engl J Med 337:1675-1681.
4. Dumont JE, Lamy F, Roger P, Maenhaut C 1992 Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factors. Physiol Rev 72:667-697.
5. Fuhrer D, Lachmund P, Nebel IT, Paschke R 2003 The thyrotropin receptor mutation database: update 2003. Thyroid 13:1123-1126.
6. Van Sande J, Parma J, Tonacchera M, Swillens S, Dumont J, Vassart G 1995 Genetic basis of endocrine disease: Somatic and germline mutations of the TSH receptor gene in thyroid diseases. J Clin Endocrinol Metab 80:2577-2585.
7. 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. J Clin Endocrinol Metab 82:735-738.
8. Russo D, Wong MG, Costante G, Chiefari E, Treseler PA, Arturi F, Filetti S, Clark OH 1999 A Val 677 activating mutation of the thyrotropin receptor in a Hurthle cell thyroid carcinoma associated with thyrotoxicosis. Thyroid 9:13-17.
9. Spambalg D, Sharifi N, Elisei R, Gross JL, Medeiros-Neto G, Fagin JA 1996 Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: low prevalence of mutations predicts infrequent involvement in malignant transformation. J Clin Endocrinol Metab 81:3898-3901.
10. Duprez L, Parma J, Van Sande J, Allgeier 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. Nature Genetics 7:396-401.
11. Leclere J, Bene MC, Aubert V, Klein M, Pascal-Vigneron V, Weryha G, Faure G 1997 Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia. Horm Res 47:158-162.
12. Ando T, Latif R, Davies TF 2005 Thyrotropin receptor antibodies: new insights into their actions and clinical relevance. Best Pract Res Clin Endocrinol Metab 19:33-52.
13. Ludgate ME, Vassart G 1995 The thyrotropin receptor as a model to illustrate receptor and receptor antibody diseases. Baillieres Clin Endocrinol Metab 9:95-113.
14. Thomas JS, Leclere J, Hartemann P, Duheille J, Orgiazzi J, Petersen M, Janot C, Guedenet JC 1982 Familial hyperthyroidism without evidence of autoimmunity. Acta Endocrinol 100:512-518.
15. Führer D, Wonerow P, Willgerodt H, Paschke R 1997 Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 82:4234-4238.
16. Tonacchera M, Van Sande J, Cetani P, Swillens S, Schvartz C, Winiszewski P, Portmann L, Dumont J, Vassart G 1996 Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab 81:547-554.
17. de Roux N, Misrahi M, Chatelain N, Gross B, Milgrom E 1996 Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene. Mol Cell Endocrinol 117:253-256.
18. Robbins AK, Horlick RA 1998 Macrophage scavenger receptor confers an adherent phenotype to cells in culture. Biotechniques 25:240-244.
19. Berridge MJ 1983 Rapid accumulation of inositol trisphosphate reveals that agonists hydrolyse polyphosphoinositides instead of phosphatidylinositol. Biochem J 212:849-858.
20. Lavard L, Jacobsen BB, Perrild H, Vassart G, Parma J 2004 Prevalence of germline mutations in the TSH receptor gene as a cause of juvenile thyrotoxicosis. Acta Paediatr 93:1192-1194.
21. 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. J Clin Endocrinol Metab 83:1431-1436.
22. Rodien P, Bremont C, Sanson ML, Parma J, Van Sande J, Costagliola S, Luton JP, Vassart G, Duprez L 1998 Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin. N Engl J Med 339:1823-1826.
23. 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. Endocr Relat Cancer 10:591-600.
24. Gozu H, Avsar M, Bircan R, Claus M, Sahin S, Sezgin O, Deyneli O, Paschke R, Cirakoglu B, Akalin S 2005 Two novel mutations in the sixth transmembrane segment of the thyrotropin receptor gene causing hyperfunctioning thyroid nodules. Thyroid 15:389-397.
25. Kosugi S, Shenker A, Mori T 1994 Constitutive activation of cyclic AMP but not phosphatidylinositol signaling caused by mutations in the 6th transmembrane helix of the human thyrotropin receptor. FEBS Lett 356:291-294.
26. Porcellini A, Ciullo I, Laviola L, Amabile G, Fenzi G, Avvedimento VE 1994 Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy. J Clin Endocrinol Metab 79:657-661.
27. Kopp P, Van Sande J, Parma J, Duprez L, Gerber H, Joss E, 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.
28. Parma J, Duprez L, Van Sande J, Hermans J, Rocmans P, Van Vliet G, Costagliola S, Rodien P, Dumont JE, Vassart G 1997 Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas. J Clin Endocrinol Metab 82:2695-2701.
29. Miserey-Lenkei S, Parnot C, Bardin S, Corvol P, Clauser E 2002 Constitutive internalization of constitutively active agiotensin II AT(1A) receptor mutants is blocked by inverse agonists. J Biol Chem 277:5891-5901.
30. Quellari M, Desroches A, Beau I, Beaudeux E, Misrahi M 2003 Role of cleavage and shedding in human thyrotropin receptor function and trafficking. Eur J Biochem 270:3486-3497.
31. Parnot C, Miserey-Lenkei S, Bardin S, Corvol P, Clauser E 2002 Lessons from constitutively active mutants of G protein-coupled receptors. Trends Endocrinol Metab 13:336-343.
32. Arseven OK, Wilkes WP, Jameson JL, Kopp P 2000 Substitutions of tyrosine 601 in the human thyrotropin receptor result in increase or loss of basal activation of the cyclic adenosine monophosphate pathway and disrupt coupling to Gq/11. Thyroid 10:3-10.
33. Biebermann H, Schoneberg T, Schulz A, Krause G, Gruters A, Schultz G, Gudermann T 1998 A conserved tyrosine residue (Y601) in transmembrane domain 5 of the human thyrotropin receptor serves as a molecular switch to determine G-protein coupling. FASEB J 12:1461-1471.
34. Govaerts C, Lefort A, Costagliola S, Wodak SJ, Ballesteros JA, Van Sande J, Pardo L, Vassart G 2001 A conserved Asn in transmembrane helix 7 is an on/off switch in the activation of the thyrotropin receptor. J Biol Chem 276:22991-22999.
35. Lin Z, Shenker A, Pearlstein R 1997 A model of the lutropin/ choriogonadotropin receptor: insights into the structural and functional effects of constitutively activating mutations. Protein Eng 10:501-510.
36. Neumann S, Krause G, Chey S, Paschke R 2001 A free carboxylate oxygen in the side chain of position 674 in transmembrane domain 7 is necessary for TSH receptor activation. Mol Endocrinol 15:1294-1305.
37. Vassart G, Pardo L, Costagliola S 2004 A molecular dissection of the glycoprotein hormone receptors. Trends Biochem Sci 29:119-126.
38. Fuhrer D, Mix M, Wonerow P, Richter I, Willgerodt H, Paschke R 1999 Variable phenotype associated with Ser505Asn-activating thyrotropin-receptor germline mutation. Thyroid 9:757-761.
39. Arturi F, Chiefari E, Tumino S, Russo D, Squatrito S, Chazenbalk G, Persani L, Rapoport B, Filetti S 2002 Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation. J Endocrinol Invest 25:696-701.
40. Lee YS, Poh L, Loke KY 2002 An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism. J Pediatr Endocrinol Metab 15:211-215.
41. Vaidya B, Campbell V, Tripp JH, Spyer G, Hattersley AT, Ellard S 2004 Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. Clin Endocrinol (Oxf) 60:711-718.