Cases of borderline in vitro constitutive thyrotropin receptor activity: How to decide whether a thyrotropin receptor mutation is constitutively active or not?

Thyroid

Volumn 19, Issue 7, 2009, Pages 765-773

  Mueller, Sandra ^a   Gozu, Hulya Ilaksu ^b   Bircan, Rifat ^c   Jaeschke, Holger ^a   Eszlinger, Markus ^a   Lueblinghoff, Julia ^a   Krohn, Knut ^d   Paschke, Ralf ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b DR LUTFI KIRDAR KARTAL EDUCATION AND RESEARCH HOSPITAL   (Turkey)

^c NAMIK KEMAL UNIVERSITY   (Turkey)

^d UNIVERSITY HOSPITAL LEIPZIG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; THYROTROPIN RECEPTOR;

ANIMAL CELL; ARTICLE; CELL STRAIN COS7; CONTROLLED STUDY; FLUORESCENCE ACTIVATED CELL SORTING; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; LINEAR REGRESSION ANALYSIS; MUTATION; NONHUMAN; PRIORITY JOURNAL; RECEPTOR INTRINSIC ACTIVITY;

ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; CYCLIC AMP; DNA MUTATIONAL ANALYSIS; GERM-LINE MUTATION; HUMANS; RECEPTORS, THYROTROPIN; REGRESSION ANALYSIS; TRANSFECTION;

EID: 67749131205     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2009.0006     Document Type: Article

References (47)

1. Kleinau G, Brehm M, Wiedemann U, Labudde D, Leser U, Krause G 2007 Implications for molecular mechanisms of glycoprotein hormone receptors using a new sequence-structure-function analysis resource. Endocrinology 21:574-580.
2. 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.
3. Tonacchera M, Chiovato L, Pinchera A, Agretti P, Fiore E, Cetani F, Rocchi R, Viacava P, Miccoli P, Vitti P 1998 Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma. J Clin Endocrinol Metab 83:492-498.
4. Wonerow P, Chey S, Fuhrer D, Holzapfel HP, Paschke R 2000 Functional characterization of five constitutively activating thyrotrophin receptor mutations. Clin Endocrinol (Oxf) 53:461-468.
5. Fuhrer 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 Endo-crinol Metab 82:4234-4238.
6. Holzapfel HP, Fuhrer D, Wonerow P, Weinland G, Scher-baum WA, Paschke R 1997 Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters. J Clin Endocrinol Metab 82:4229-4233.
7. Fuhrer D, Holzapfel HP, Wonerow P, Scherbaum WA, Paschke R 1997 Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules. J Clin Endocrinol Metab 82:3885-3891.
8. Neumann S, Claus M, Paschke R 2005 Interactions between the extracellular domain and the extracellular loops as well as the 6th transmembrane domain are necessary for TSH receptor activation. Eur J Endocrinol 152:625-634.
9. Claeysen S, Govaerts C, Lefort A, Van Sande J, Costagliola S, Pardo L, Vassart G 2002 A conserved Asn in TM7 of the thyrotropin receptor is a common requirement for activation by both mutations and its natural agonist. FEBS Lett 517: 195-200.
10. Parma J, Van Sande J, Swillens S, Tonacchera M, Dumont J, Vassart G 1995 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. Endocrinology 9:725-733.
11. Jaeschke H, Neumann S, Kleinau G, Mueller S, Claus M, Krause G, Paschke R 2006 An aromatic environment in the vicinity of serine 281 is a structural requirement for thyro-tropin receptor function. Endocrinology 147:1753-1760.
12. Duprez L, Parma J, Costagliola S, Hermans J, Van Sande J, Dumont JE, Vassart G 1997 Constitutive activation of the TSH receptor by spontaneous mutations affecting the N-terminal extracellular domain. FEBS Lett 409:469-474.
13. Gruters A, Schoneberg T, Biebermann H, Krude H, Krohn HP, Dralle H, Gudermann T 1998 Severe congenital hyper-thyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor. J Clin Endocrinol Metab 83:1431-1436.
14. Ho SC, Van Sande J, Lefort A, Vassart G, Costagliola S 2001 Effects of mutations involving the highly conserved S281HCC motif in the extracellular domain of the thyro-tropin (TSH) receptor on TSH binding and constitutive activity. Endocrinology 142:2760-2767.
15. Ballesteros JA, Jensen AD, Liapakis G, Rasmussen SG, Shi L, Gether U, Javitch JA 2001 Activation of the beta 2-adrenergic receptor involves disruption of an ionic lock between the cytoplasmic ends of transmembrane segments 3 and 6. J Biol Chem 276:29171-29177.
16. Hjorth SA, Orskov C, Schwartz TW 1998 Constitutive activity of glucagon receptor mutants. Endocrinology 12:78-86.
17. Vlaeminck-Guillem V, Ho SC, Rodien P, Vassart G, Costa-gliola S 2002 Activation of the cAMP pathway by the TSH receptor involves switching of the ectodomain from a tethered inverse agonist to an agonist. Endocrinology 16:736-746.
18. Kleinau G, Jaeschke H, Mueller S, Raaka BM, Neumann S, Paschke R, Krause G 2008 Evidence for cooperative signal triggering at the extracellular loops of the TSH receptor. FASEB J 22:2798-2808.
19. Gozu HI, Mueller S, Bircan R, Krohn K, Ekinci G, Yavuzer D, Sargin H, Sargin M, Ones T, Gezen C, Orbay E, Cirakoglu B, Paschke R 2008 A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation. Thyroid 18:499-508.
20. Russo D, Betterle C, Arturi F, Chiefari E, Girelli ME, Filetti S 2000 A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH. J Clin Endo-crinol Metab 85:4238-4242.
21. Biebermann H, Schoneberg T, Hess C, Germak J, Guder-mann T, Gruters A 2001 The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 86:4429-4433.
22. Fuhrer D, Warner J, Sequeira M, Paschke R, Gregory J, Ludgate M 2000 Novel TSHR germline mutation (Met463-Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism. Thyroid 10:1035-1041.
23. 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. J Clin Endocrinol Metab 81:547-554.
24. Claus M, Maier J, Paschke R, Kujat C, Stumvoll M, Fuhrer D 2005 Novel thyrotropin receptor germline mutation (Ile568-Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism. Thyroid 15:1089-1094.
25. Alberti L, Proverbio MC, Costagliola S, Weber G, Beck-Peccoz P, Chiumello G, Persani L 2001 A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism. Eur J Endocrinol 145: 249-254.
26. Esapa CT, Duprez L, Ludgate M, Mustafa MS, Kendall-Taylor P, Vassart G, Harris PE 1999 A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis. Thyroid 9:1005-1010.
27. 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. Endocrinology 15:1294-1305.
28. Duprez L, Parma J, Van Sande J, Allgeier A, Leclere J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J 1994 Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroid-ism. Nat Genet 7:396-401.
29. Mueller S, Kleinau G, Jaeschke H, Neumann S, Krause G, Paschke R 2006 Significance of ectodomain cysteine boxes 2 and 3 for the activation mechanism of the thyroid-stimulating hormone receptor. J Biol Chem 281:31638-31646.
30. Wonerow P, Schoneberg T, Schultz G, Gudermann T, Paschke R 1998 Deletions in the third intracellular loop of the thyrotropin receptor. A new mechanism for constitutive activation. J Biol Chem 273:7900-7905.
31. Arturi F, Chiefari E, Tumino S, Russo D, Squatrito S, Cha-zenbalk 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.
32. 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.
33. Gozu HI, Bircan R, Krohn K, Muller S, Vural S, Gezen C, Sargin H, Yavuzer D, Sargin M, Cirakoglu B, Paschke R 2006 Similar prevalence of somatic TSH receptor and Gsalpha mutations in toxic thyroid nodules in geographical regions with different iodine supply in Turkey. Eur J Endocrinol. 155:535-545.
34. Schwab KO, Gerlich M, Broecker M, Sohlemann P, Derwahl M, Lohse MJ 1997 Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism. J Pediatr 131:899-904.
35. Zoenen M., Urizar E, Vassart G, Costagliola S 2008 Con-stitutively active TSHR mutants display profound alteration of their allosteric behavior for TSH binding [abstract]. Hormones 7(Suppl. 1):17.
36. Herzog H, Hort YJ, Ball HJ, Hayes G, Shine J, Selbie LA 1992 Cloned human neuropeptide Y receptor couples to two different second messenger systems. Proc Natl Acad Sci USA 89:5794-5798.
37. Kenakin T 2003 Predicting therapeutic value in the lead optimization phase of drug discovery. Nat Rev Drug Discov 2:429-438.
38. Perez DM, DeYoung MB, Graham RM 1993 Coupling of expressed alpha 1B- and alpha 1D-adrenergic receptor to multiple signaling pathways is both G protein and cell type specific. Mol Pharmacol 44:784-795.
39. Van Sande J, Swillens S, Gerard C, Allgeier A, Massart C, Vassart G, Dumont JE 1995 In Chinese hamster ovary K1 cells dog and human thyrotropin receptors activate both the cyclic AMP and the phosphatidylinositol 4,5-bisphosphate cascades in the presence of thyrotropin and the cyclic AMP cascade in its absence. EurJBiochem 229:338-343.
40. 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.
41. Claus M, Jaeschke H, Kleinau G, Neumann S, Krause G, Paschke R 2005 A hydrophobic cluster in the center of the third extracellular loop is important for thyrotropin receptor signaling. Endocrinology 146:5197-5203.
42. Grasberger H, Van Sande J, Hag-Dahood MA, Tenenbaum-Rakover Y, Refetoff S 2007 A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates=Ca2p cascade mediates TSH action on thyroid hormone synthesis. J Clin Endocrinol Metab 92:2816-2820.
43. Kosugi S, Okajima F, Ban T, Hidaka A, Shenker A, Kohn LD 1992 Mutation of alanine 623 in the third cytoplasmic loop of the rat thyrotropin (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.
44. 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.
45. Wettschureck N, Offermanns S 2005 Mammalian G proteins and their cell type specific functions. Physiol Rev 85: 1159-1204.
46. Fuhrer D, Lewis MD, Alkhafaji F, Starkey K, Paschke R, Wynford-Thomas D, Eggo M, Ludgate M 2003 Biological activity of activating thyroid-stimulating hormone receptor mutants depends on the cellular context. Endocrinology 144:4018-4030.
47. Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont J, Vassart G 1993 Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365:649-651.