Nephrogenic diabetes insipidus: Functional analysis of new AVPR2 mutations identified in Italian families

Journal of the American Society of Nephrology

Volumn 11, Issue 6, 2000, Pages 1033-1043

  Albertazzi, Elena ^a   Zanchetta, Deborah ^a   Barbier, Pascaline ^a   Faranda, Sarra ^a   Frattini, Annalisa ^a   Vezzoni, Paolo ^a   Procaccio, Mirella ^b   Bettinelli, Alberto ^b   Guzzi, Francesca ^c   Parenti, Marco ^c   Chini, Bice ^a  

^a CNR   (Italy)

^b Paediatric Clinic   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CYCLIC AMP; DNA; GUANINE NUCLEOTIDE BINDING PROTEIN; VASOPRESSIN RECEPTOR;

ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; CERCOPITHECIDAE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE; GENE MUTATION; HUMAN; IMMUNOFLUORESCENCE; IMMUNOPRECIPITATION; INFANT; ITALY; MALE; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; PRIORITY JOURNAL;

EID: 0034041571     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Knoers N, Monnens L: Nephrogenic diabetes insipidus: Clinical symptoms, pathogenesis, and treatment. Pediatr Nephrol 6: 476-482, 1992
2. Oksche A, Rosenthal W: The molecular basis of nephrogenic diabetes insipidus. J Mol Med 76: 326-337, 1998
3. Deen PMT, Knoers NV: Physiology and pathophysiology of the aquaporin-2 water channel. Curr Opin Nephrol Hypertens 7: 37-42, 1998
4. Ma T, Yang B, Gillespie A, Carlson EJ, Epstein CJ, Verkman AS: Severely impaired urinary concentrating ability in transgenic mice lacking aquaporin-1 water channel. J Biol Chem 273: 4296-4299, 1998
5. Chou CL, Knepper MA, van Hoek AN, Brown DM, Yang B, Ma T, Verkman AS: Reduced water permeability and altered ultrastructure in thin descending limb of Henle in aquaporin-1 null mice. J Clin Invest 103: 491-496, 1998
6. Matsumura Y, Uchida S, Kondo Y, Miyazaki H, Ko SBH, Hayama A, Morimoto T, Liu W, Arisawa M, Sasaki S, Marumo F: Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel. Nat Genet 21: 95-98, 1999
7. Fujiwara TM, Morgan K, Bichet DG: Molecular biology of diabetes insipidus. Annu Rev Med 46: 331-343, 1995
8. Rosenthal W, Antaramiam A, Gilbert S, Birnbaumer M: Nephrogenic diabetes insipidus: A V2 vasopressin receptor unable to stimulate adenylyl cyclase. J Biol Chem 268: 13030-13033, 1993
9. Pan Y, Wilson P, Gitschier J: The effect of eight V2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin. J Biol Chem 269: 31933-31937, 1994
10. Birnbaumer M, Gilbert S, Rosenthal W: An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to Gs/adenylyl cyclase system. Mol Endocrinol 8: 886-894, 1994
11. Tsukaguchi H, Matsubara H, Taketani S, Mori Y, Seido T, Inada M: 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, 1995
12. Tsukaguchi H, Matsubara H, Mori Y, Yoshimasa Y, Yoshimasa T, Nakao K, Inada M: Two vasopressin type 2 receptor gene mutations R143P and AV278 in patients with nephrogenic diabetes insipidus impair ligand binding of the receptor. Biochem Biophys Res Commun 211: 967-977, 1995
13. Oksche A, Schulein R, Rutz C, Liebenhoff U, Dickson J, Muller H, Birnbaumer M, Rosenthal W: Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: Analysis of expression, processing, and function. Mol Pharmacol 50: 820-828, 1996
14. Wenkert D, Schoneberg T, Merendino JJ, Rodriguez Pena MS, Vinitsky R, Goldsmith PK, Wess J, Spiegel AM: Functional characterization of five V2 vasopressin receptor gene mutations. Mol Cell Endocrinol 124: 43-50, 1996
15. Sadeghi H, Robertson GL, Bichet DG, Innamorati G, Birnbaumer M: Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Mol Endocrinol 11: 1806-1813, 1997
16. Schonenberg T, Schulz A, Biebermann H, Gruters A, Grimm T, Hubschmann K, Filler G, Gudermann T, Schultz G: V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. Hum Mutat 12: 196-205, 1998
17. Wildin RS, Cogdell DE, Valadez V: AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus. Kidney Int 54: 1909-1922, 1998
18. Wess J: G-protein-coupled receptors: Molecular mechanisms involved in receptor activation and selectivity of G-protein recognition. FASEB J 11: 346-354, 1997
19. Chini B, Mouillac B, Ala Y, Balestre M, Trumpp-Kallmeyer S, Hoflack J, Elands J, Hibert M, Manning M, Jard S, Barberis C: Tyr115 is the key residue for determining receptor selectivity in the Via vasopressin receptor. EMBO J 14: 2176-2182, 1995
20. Ufer E, Postina R, Gorbulev V, Fahrenholz F: An extracellular residue determines the agonist specificity of V2 vasopressin receptors. FEBS Lett 362: 19-23, 1995
21. Ala Y, Morin D, Mahe E, Cotte N, Mouillac B, Jard S, Barberis C, Tribollet E, Deifuss JJ, Sawyer WH, Wo NC, Chan WY, Kolodziejczyk AS, Cheng LL, Manning M: Properties of a new radioiodinated antagonist for human V2 and V1A receptors. Eur J Pharmacol 331: 285-293, 1997
22. Birnbaumer M, Seibold A, Gilbert S, Ishido M, Barberis C, Antaramian A, Brabet P, Rosenthal W: Molecular cloning of the receptor for human antidiuretic hormone. Nature 357: 333-335, 1992
23. Munson PJ, Rodbard D: Ligand: A versatile computerized approach for characterization of ligand binding systems. Anal Biochem 107: 220-239, 1980
24. Szalai C, Molnar E, Sallay P, Czinner A: Molecular biological studies on patients with nephrogenic diabetes insipidus. Orv Hetil [Hungarian] 139: 883-887, 1998
25. Innamorati G, Sadeghi H, Birnbaumer M: A fully active nonglycosylated V2 vasopressin receptor. Mol Pharmacol 50: 467-473, 1996
26. Sadeghi H, Innamorati G, Birnbaumer M: Maturation of receptor proteins in eukaryotic expression systems. J Recept Signal Transduct Res 17: 433-445, 1997
27. Ala Y, Morin D, Mouillac B, Sabatier N, Vargas R, Cotte N, Dechaux M, Antignac C, Arthus MF, Lonergan M, Turner MS, Balestre MN, Alonso G, Hibert M, Barberis C, Hendy GN, Bichet DG, Jard S: 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, 1998
28. Mouillac B, Chini B, Balestre MN, Elands J, Trumpp-Kallmeyer S, Hoflack J, Hibert M, Jard S, Barberis C: The binding site of neuropeptide vasopressin V1a receptor: Evidence for a major localization within transmembrane regions. J Biol Chem 270: 25771-25777, 1995
29. Fanelli F, Barbier P, Zanchetta D, De Benedetti PG, Chini B: Activation mechanism of human oxytocin receptor: A combined study of experimental and computer-simulated mutagenesis. Mol Pharmacol 56: 214-225, 1999
30. Bichet DG, Oksche A, Rosenthal W: Congenital nephrogenic diabetes insipidus. J Am Soc Nephrol 8: 1951-1958, 1997
31. Sato S, Ward C, Krouse ME, Wine JJ, Kopito RR: Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J Biol Chem 271: 635-638, 1996
32. Hobbs H, Brown M, Goldstein J: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1: 445-466, 1992
33. Kojro E, Eich P, Gimpl G, Fahrenholz F: Direct identification of an extracellular agonist binding site in the renal V2 vasopressin receptor. Biochemistry 32: 13537-13544, 1993