Proper targeting and activity of a nonfunctioning thyroid-stimulating hormone receptor (TSHr) combining an inactivating and activating TSHr mutation in one receptor

European Journal of Biochemistry

Volumn 270, Issue 18, 2003, Pages 3839-3847

  Agretti, Patrizia ^a   De Marco, Giuseppina ^a   Collecchi, Paola ^a   Chiovato, Luca ^b   Vitti, Paolo ^a   Pinchera, Aldo ^a   Tonacchera, Massimo ^a,c  

^a UNIVERSITY OF PISA   (Italy)

^b IRCCS   (Italy)

^c Dipartimento di Endocrinologia e Metabolismo   (Italy)

Author keywords

Constitutive activity; G protein coupled receptors; Germline mutations; Site directed mutagenesis; Somatic mutations; TSH receptor

Indexed keywords

CYCLIC AMP; GUANINE NUCLEOTIDE BINDING PROTEIN; INOSITOL PHOSPHATE; THYROTROPIN; THYROTROPIN RECEPTOR;

ANIMAL CELL; ARTICLE; CELL SURFACE; CERCOPITHECIDAE; CONFORMATION; CONTROLLED STUDY; FLUORESCENCE ACTIVATED CELL SORTING; GENE CONSTRUCT; GENE EXPRESSION; GENETIC TRANSFECTION; GERM LINE; NONHUMAN; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN TARGETING; SITE DIRECTED MUTAGENESIS; SOMATIC MUTATION;

AMINO ACID SUBSTITUTION; ANIMALS; COS CELLS; CYCLIC AMP; ENZYME-LINKED IMMUNOSORBENT ASSAY; FLOW CYTOMETRY; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; INOSITOL PHOSPHATES; IODINE RADIOISOTOPES; MUTAGENESIS, SITE-DIRECTED; PROTEIN BINDING; RECEPTORS, CELL SURFACE; RECEPTORS, THYROTROPIN; RECOMBINANT PROTEINS; THYROTROPIN; TRANSFECTION;

ANIMALIA; CERCOPITHECIDAE;

EID: 0141447331     PISSN: 00142956     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1432-1033.2003.03778.x     Document Type: Article

References (31)

1. Gether, U. (2000) Uncovering molecular mechanisms involved in activation of G protein-coupled receptors. Endocr. Rev. 21, 90-113.
2. Morris, A.J. & Malbon, C.C. (1999) Physiological regulation of G protein-linked signaling. Physiol. Rev. 79, 1373-1430.
3. 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. J. Clin. Endocrinol. Metab. 80, 2577-2585.
4. Vassart, G. & Dumont, J.E. (1992) The thyrotropin receptor and the regulation of thyreocyte function and growth. Endocr. Rev, 13, 596-611.
5. Nagayama, Y. & Rapoport, B. (1992) The thyrotropin receptor 25 years after is discovery: new insight after its molecular cloning. Mol. Endocrinol. 6, 145-156.
6. Laurent, E., Mockel, J., Van Sande, J., Graff, I. & Dumont, J.E. (1987) Dual activation by thyrotropin of the phospholipase C and cyclic AMP cascades in human thyroid. Mol. Cell Endocrinol. 52, 273-278.
7. Van Sande, J., Raspe, E., Perret, J., Lejeune, C., Maenhaut, C., Vassart, G. & Dumont, J.E. (1990) Thyrotropin activates both the cAMP and the PIP2 cascades in CHO cells expressing the human cDNA of TSH receptor. Mol. Cell Endocrinol. 74, R1-R6.
8. Allgeier, A., Offermans, S., Van Sande, J., Spicher, K., Schultz, G. & Dumont, J.E. (1994) The human thyrotropin receptor activates G-protein Gs and Gq11. J. Biol. Chem. 269, 13733-13735.
9. Lefkowitz, R.J., Cotecchia, S., Samama, P. & Costa, T. (1994) Constitutive activity of receptors coupled to guanine nucletide regulatory proteins. Trends Pharmacol. Sci. 14, 303-307.
10. Parma, J., Duprez, L., Van Sande, J., Cochaux, P., Gervy, C., Mockel, J., Dumont, J.E. & Vassart, G. (1993) Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365, 649-651.
11. ++ cascades. Mol. Endocrinol. 9, 725-733.
12. Dupre, L., Parma, J., Van Sande, J., Allegeier, A., Leclere, J., Schvartz, C., Delisle, M.J., Decoulx, M., Orgiazzi, J., Dumont, J.E. & Vassart, G. (1994) Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat. Genet. 7, 396-401.
13. Kopp, P., Van Sande, J., Parma, J., Duprez, L., Gerber, H., Joss, E., Jameson, J.L., Dumont, J.E. & Vassart, G. (1995) Congenital hyperthyroidism caused by a mutation in the thyrotropin receptor gene. N. Engl. J. Med. 332, 150-154.
14. Abramowicz, M.J., Duprez, L., Parma, J., Vassart, G. & Heinrichs, C. (1997) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J. Clin. Invest. 99, 3018-3024.
15. Biebermann, H., Schoneberg, T., Krude, H., Schultz, G., Gudermann, T. & Graters, A. (1997) Mutations of the thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J. Clin. Endocrinol. Metab. 82, 3471-3480.
16. Tonacchera, M., Agretti, P., Pinchera, A., Rosellini, V., Perri, A., Collecchi, P., Vitti, P. & Chiovato, L. (2000) Congenital hyperthyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of TSH receptor gene. J. Clin. Endocrinol. Metab. 85, 1001-1008.
17. Tonacchera, M., Chiovato, L., Pinchera, A., Agretti, P., Fiore, E., Cetani, F., Rocchi, R., Vacava, 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.
18. Lopata, M.A., Cleveland, D.W. & Solmer-Wess, B. (1984) High level expression of a chloramphenicol-acetyltransferase gene by DEAE-dextrane mediated DNA trasfection coupled with a dimethyl-sulfoxide or glycerol shock treatment. Nucleic Acids Res. 12, 5707-5711.
19. Berridge, M.J. (1983) Rapid accumulation of inositol triphosphate reveals that agonists hydrolyse polyphosphoinosites instead of phosphathydilinositol. Biochem. J. 212, 849-858.
20. Rapoport, B. & Seto, P. (1985) Bovine thyrotropin as a specific bioactivity 5- to 10-fold that of previous estimates for highly purified hormone. Endocrinology 116, 1379-1382.
21. Swillens, S. (1995) Interpretation of binding curves obtained with high receptor concentrations: practical aid for computer analysis. Mol. Pharmacol. 47, 1197-1203.
22. 2-adrenergic receptor. Mol. Pharmacol. 45, 390-394.
23. Kosugi, S., Mori, T. & Shenker, A. (1998) An anionic residue at position 564 is important for maintaining the inactive conformation of the human lutropin/chorigonadotropin receptor. Mol. Pharmacol. 53, 894-901.
24. Angelova, K., Fanelli, F. & Puett, D. (2002) A model for costitutive lutropin receptor activation based on molecular stimulation and engineered mutations in transmembrane elices 6 and 7. J. Biol. Chem. 277, 32202-32213.
25. Gilchrist, R.L., Ryu, K.S., Ji, I. & Ji, T.H. (1996) The luteinizing hormone/chorionic gonadotropin receptor has distinct transmembrane conductors for cAMP and inositol phoshate signals. J. Biol. Chem. 271, 19283-19287.
26. 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.
27. Schulz, A., Schoneberg, T., Paschke, R., Schultz, G. & Gudermann, T. (1999) Role of the third intracellular loop for the activation of gonadotropin receptors. Mol. Endocrinol. 13, 181-190.
28. Doherty, E., Pakarinen, P., Tiitinen, A., Kiilavuori, A., Huhtaniemi, I., Forrest, S. & Aittomaki, C. (2002) A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J. Clin. Endocrinol. Metab. 87, 1151-1155.
29. Sangkuhl, K., Schulz, A., Schultz, G. & Schoneberg, T. (2002) Structural requirements for mutational lutropin/choriogonadotropin receptor activation. J. Biol. Chem. 277, 47748-47755.
30. 90K) GnRH receptor function by a deletion at a distant site. J. Clin. Endocrinol. Metab. 87, 2144-2149.
31. Morello, J.P., Petaja-Repo, U.E., Bichet, D.G. & Bouvier, M. (2000) Pharmacological chaperones: a new twist on receptor folding. Trends Phamacol. Sci. 12, 466-469.