Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

Journal of Clinical Investigation

Volumn 105, Issue 7, 2000, Pages 887-895

  Morello, Jean Pierre ^a,b   Salahpour, Ali ^a   Laperrière, André ^a   Bernier, Virginie ^a,b   Arthus, Marie Françoise ^a,b   Lonergan, Michèle ^a,b   Petäjä Repo, Ulla ^a   Angers, Stéphane ^a   Morin, Denis ^a,b   Bichet, Daniel G ^a,b   Bouvier, Michel ^a,b  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; VASOPRESSIN V2 RECEPTOR;

ANIMAL CELL; ARTICLE; CELL SURFACE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; HUMAN; HUMAN CELL; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; PRIORITY JOURNAL; PROTEIN FOLDING;

EID: 0034118221     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI8688     Document Type: Article

References (36)

1. Knoers, N.V., and Monnens, L.I., 1999. Nephrogenic diabetes insipidus. Semin. Nephrol. 19:344-352.
2. Bichet, D.G., and Fujiwara, T.M. 2000. Nephrogenic diabetes insipidus. In The metabolic and molecular basis of inherited disease. 8th edition. C.R. Scriver et al., editors. McGraw-Hill. New York, NY. In press.
3. Schülein, R., Rutz, C., and Rosenthal, W. 1996. Membrane targeting and determination of transmembrane topology of the human vasopressin V2 receptor. J. Biol. Chem. 271:28844-28852.
4. Wenkert, D., et al. 1996. Functional charactization of five V2 vasopressin receptor gene mutations. Mol. Cell. Endocrinol. 124:43-50.
5. Sadeghi, H.M., Innamorati, G., and Birnbaumer, M. 1997. An X-linked NDI mutation reveals a requirement for cell surface V2R expression. Mol. Endocrinol. 11:706-713.
6. Tsukaguchi, H., et al. 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. Schöneberg, T., Yun, J., Wenkert, D., and Wess, J. 1996. Functional rescue of mutant V2 vasopressin receptors causing nephrogenic diabetes insipidus by a co-expressed receptor polypeptide. EMBO J. 15:1283-1291.
8. Ala, Y., et al. 1998. Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype. J. Am. Soc. Nephrol. 9:1861-1872.
9. Oksche, A., et al. 1996. Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: analysis of expression, processing, and function. Mol. Pharmacol. 50:820-828.
10. Cheng, S.H., et al. 1990. Defective intracellular transport and processing of CFTR is the molecular basis of must cystic fibrosis. Cell. 63:827-834.
11. Lehrman, M.A., et al. 1986. The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. J. Biol. Chem. 262:401-410.
12. Gow, A., Friedrich, V.L., and Lazzarini, R.A. 1994. Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport. J. Neurosci. Res. 37:574-583.
13. Singh, N., et al. 1997. Prion protein aggregation reverted by low temperature in transfected cells carrying a prion protein gene mutation. J. Biol. Chem. 272:28461-28470.
14. Hou, W.-S., et al. 1999. Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. J. Clin. Invest. 103:731-738.
15. Dalemans, W., et al. 1991. Altered chloride ion channel kinetics associated with the ΔF508 cystic fibrosis mutation. Nature. 354:526-528.
16. Drumm, M.L., et al. 1991. Chloride conductance expressed by ΔF508 and other mutant CFTRs in Xenopus oocytes. Science. 254:1797-1799.
17. Eilers, M., and Schatz, G. 1986. Methotrexate strongly inhibits DHFR import into yeast mitochondria. Nature. 322:228-232.
18. Loo, T.P., and Clarke, D.M. 1997. Correction of defective protein kinesis of human P-glycoprotein mutants by substrates and modulators. J. Biol. Chem. 272:709-712.
19. Wang, J., and White, A.L. 1999. 6-aminohexanoic acid as a chemical chaperone for apolipoprotein (a). J. Biol. Chem. 274:12883-12889.
20. Tamarappoo, B.K., and Verkman, A.S. 1998. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. J. Clin. Invest. 101:2257-2267.
21. Serradeil-LeGal, C., et al. 1996. Characterization of SR121463A, a highly potent and selective, orally active vasopressin V2 receptor antagonist. J. Clin. Invest. 98:2729-2738.
22. Albright, J.D., et al. 1998. 5-Fluoro-2-methyl-N[4-(5H-pytrolo[2,1-c]-[1,4]benzodiazepin-10(11H)-carbonyl)-3- cholorophenyl]benzamide (VPA-985): an orally active arginine vasopressin antagonist with selectivity for V2 receptors. J. Med. Chem. 41:2442-2444.
23. Cullen, B.R. 1987. Use of eucaryotic expression technology in the functional analysis of cloned genes. Methods Enzymol. 152:684-704.
24. Morin, D., et al. 1998. The D136A mutation of the V2 vasopressin receptor induces a constitutive activity which permits discrimination between antagonists with partial agonist and inverse agonist activities. FEBS Lett. 441:470-475.
25. 12 inhibit cAMP accumulation. Nature. 351:63-65.
26. Kornfeld, R., and Kornfeld, S. 1985. Assembly of asparigine-linked oligosaccharides. Annu. Rev. Biochem. 54:631-664.
27. Sadeghi, H., and Birnbaumer, M. 1999. O-glycosylation of the V2 vasopressin receptor. Glycobiology. 9:731-737.
28. Jard, S., et al. 1986. Vasopressin antagonists allow demonstration of a novel type of vasopressin receptor in the rat adenohypophysis. Mol. Pharmacol. 30:171-177.
29. 2 receptors. Proc. Natl. Acad. Sci. USA. 93:6802-6807.
30. Gether, U., et al. 1997. Structural instability of a constitutively active G protein-coupled receptor. J. Biol. Chem. 272:2587-2590.
31. Heinflink, M., et al. 1995. A constitutively active mutant thyrotropin-releasing hormone receptor is chronically down-regulated in pituitary cells: evidence using chlordiazepoxide as a negative antagonist. Mol. Endocrinol. 9:1455-1460.
32. IB-adrenoceptor by ligands that act as inverse agonists. Biochem. J. 325:733-739.
33. Sadeghi, H., et al. 1997. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Mol. Endocrinol. 11:1806-1813.
34. Schöneberg, T., et al. 1997. Reconstitution of mutant V2 vasopressin receptors by adenovirus-mediated gene transfer. J. Clin. Invest. 100:1547-1556.
35. Oksche, A., and Rosenthal, W. 1998. The molecular basis of nephrogenic diabetes insipidus. J. Mol. Med. 76:326-337.
36. Welch, W.J., and Brown, C.R. 1996. Influence of molecular and chemical chaperones on protein folding. Cell Stress Chaperones. 1:109-115.