Functional characterization of five V2 vasopressin receptor gene mutations

Molecular and Cellular Endocrinology

Volumn 124, Issue 1-2, 1996, Pages 43-50

  Wenkert, David ^a   Schoneberg, Torsten ^a   Merendino Jr , John J ^a   Rodriguez Pena, Maria Sol ^a   Vinitsky, Ruth ^a   Goldsmith, Paul K ^a   Wess, Jurgen ^a   Spiegel, Allen M ^a  

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

Author keywords

Expression; Mutations; Nephrogenic diabetes insipidus; Receptor; Transfection; Vasopressin

Indexed keywords

CELL SURFACE RECEPTOR; CYCLIC AMP; MUTANT PROTEIN; VASOPRESSIN V2 RECEPTOR;

ANIMAL CELL; ARTICLE; CONCENTRATION RESPONSE; CONTROLLED STUDY; DISSOCIATION CONSTANT; DNA TRANSFECTION; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE EXPRESSION; GENE MUTATION; IMMUNOFLUORESCENCE; ISOTOPE LABELING; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; PLASMID; PRIORITY JOURNAL; RECEPTOR BINDING; RECEPTOR DENSITY;

EID: 0030606140     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0303-7207(96)03926-3     Document Type: Article

References (25)

1. [1] Fujiwara, T.M., Morgan, K. and Bichet, D.G. (1995) Molecular biology of diabetes insipidus. Annu. Rev. Med. 46, 331-343.
2. [2] Rosenthal, W., Antaramian, A., Gilbert, S. and Birnbaumer, M. (1993) Nephrogenic diabetes insipidus: a V2 vasopressin receptor unable to stimulate adenylyl cyclase. J. Biol. Chem. 268, 13030-13033.
3. s/adenylyl cyclase system. Mol. Endocrinol. 8, 886-894.
4. [4] Pan, Y., Wilson, P. and Gitschier, J. (1994) The effect of eight V2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin. J. Biol. Chem. 269, 31933-31937.
5. [5] Tsukaguchi, H., Matsubara, H., Mori, Y., Yoshimasa, Y., Yoshimasa, T., Nakao, K. and Inada, M. (1995) Two vasopressin type 2 receptor gene mutations R143P and delta V278 in patients with nephrogenic diabetes insipidus impair ligand binding of the receptor. Biochem. Biophys. Res. Commun. 211, 967-977.
6. [6] Tsukaguchi, H., Matsubara, H., Taketani, S., Mori, Y., Seido, T. and Inada, M. (1995) Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. J. Clin. Invest. 96, 2043-2050.
7. [7] Tsukaguchi, H., Matsubara, H. and Inada, M. (1995) Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus. Kidney Int. 48, 554-562.
8. [8] Wenkert, D., Merendino Jr, J.J., Shenker, A., Thambi, N., Robertson, G.L., Moses, A.M. and Spiegel, A.M. (1994) Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. Hum. Mol. Genet. 3, 1429-1430.
9. [9] Bonner, T.I., Young, A.C., Brann, M.R. and Buckley, N.J. (1988) Cloning and expression of the human and rat m5 muscarinic acetylcholine receptor genes. Neuron 1, 403-410.
10. [10] Higuchi, R. (1989) Using PCR to engineer DNA. In: PCR Technology (Erlich, H.A., ed.), pp. 61-70, Stockton Press, New York.
11. [11] Kolodziej, P.A. and Young, R.A. (1991 ) Epitope tagging and protein surveillance. Methods Enzymol. 194, 508-519.
12. [12] Cullen, B.R. (1987) Use of eukaryotic expression technology in the functional analysis of cloned genes. Methods Enzymol. 152, 684-704.
13. [13] Johnson, R.A., Alvarez, R. and Salomon, Y. (1994) Determination of adenylyl cyclase catalytic activity using single and double column procedures. Methods Enzymol. 238, 31-56.
14. [14] Birnbaumer, M., Antaramian, A., Themmen, A.P. and Gilbert, S. (1992) Desensitization of the human V2 vasopressin receptor. Homologous effects in the absence of heterologous desensitization. J. Biol. Chem. 267, 11783-11788.
15. [15] Munson, P.J. and Rodbard, D. (1980) LIGAND: a versatile computerized approach for characterization of ligand binding systems. Anal. Biochem. 107, 220-239.
16. [16] Schöneberg, T., Liu, J. and Wess, J. (1995) Plasma membrane localization and functional rescue of truncated forms of a G protein-coupled receptor. J. Biol. Chem. 270, 18000-18006.
17. [17] Cullen, B.R. (1987) Use of eukaryotic expression technology in the functional analysis of cloned genes. Methods Enzymol. 152, 684-704.
18. 2 vasopressin receptors. FEBS Lett. 362, 19-23.
19. [19] Thibonnier, M., Auzan, C., Madhun, Z., Wilkins, P., Berti-Mattera, L. and Clauser, E. (1994) Molecular cloning, sequencing, and functional expression of a cDNA encoding the human V1a vasopressin receptor. J. Biol. Chem. 269, 3304-3310.
20. [20] Sung, C.-H., Davenport, C.M. and Nathans, J. (1993) Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: clustering of functional classes along the polypeptide chain. J. Biol. Chem. 268, 26645-26649.
21. [21] Baldwin, J.M. (1993) The probable arrangement of the helices in G protein-coupled receptors. EMBO J. 12, 1693-1703.
22. [22] Matus-Leibovitch, N., Nussenzveig, D.R., Gershengorn, M.C. and Oron, Y. (1995) Truncation of the thyrotropin-releasing hormone receptor carboxyl tail causes constitutive activity and leads to impaired responsiveness in Xenopus oocytes and AtT20 cells. J. Biol. Chem. 270, 1041-1047.
23. [23] Mountjoy, K.G., Robbins, L.S., Mortrud, M.T. and Cone, R.D. (1992) The cloning of a family of genes that encode the melanocorlin receptors. Science 257, 1248-1251.
24. [24] Reinhart, J., Mertz, L.M. and Catt, K.J. (1992) Molecular cloning and expression of cDNA encoding the murine gonadotropin-releasing hormone receptor. J. Biol. Chem. 267, 21281-21284.
25. [25] Ridge, K.D., Lu, Z., Liu, X. and Khorana, H.G. (1995) Structure and function in rhodopsin. Separation and characterization of the correctly folded and misfolded opsins produced on expression of an opsin mutant gene containing only the native intradiscal cysteine codons. Biochemistry 34, 3261-3267.