A low-affinity vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus

Journal of the American Society of Nephrology

Volumn 7, Issue 3, 1996, Pages 410-414

  Yokoyama, Kenji ^a   Yamauchi, Atsushi ^a   Izumi, Masaaki ^a   Itoh, Takahito ^a   Ando, Akio ^b   Imai, Enyu ^a   Kamada, Takenobu ^a   Ueda, Naohiko ^c  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b OSAKA UNIVERSITY   (Japan)

^c NARA INSTITUTE OF SCIENCE AND TECHNOLOGY   (Japan)

Author keywords

CAMP; COS cell; G protein coupled; Nephrogenic diabetes insipidus; Receptor; Transfection

Indexed keywords

CYCLIC AMP; GUANINE NUCLEOTIDE BINDING PROTEIN; VASOPRESSIN V2 RECEPTOR;

ADULT; ARTICLE; CASE REPORT; FAMILIAL DISEASE; HUMAN; MALE; NEPHROGENIC DIABETES INSIPIDUS; PRIORITY JOURNAL;

EID: 0029887712     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Birnbaumer M, Seibold A, Gilbert S, et al.: Molecular cloning of the receptor for human antidiuretic hormone. Nature (Lond) 1992;357:333-335.
2. Lolait SJ, O'Carroll AM, McBride OW, Konig M, Morel A, Brownstein MJ: Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus. Nature (Lond) 1992;357:336-339.
3. Fushimi K, Uchida S, Hara Y, Hirata Y, Marumo F, Sasaki S: Cloning and expression of apical membrane water channel of rat kidney collecting tubule. Nature (Lond) 1993;361:549-552.
4. Pan Y, Metzenberg A, Das S, Jing B, Gitschier J: Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nature Genet 1992;2:103-106.
5. van den Ouweland AM, Dreesen JC, Verdijk M, et al.: Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nature Genet 1992;2:99-102.
6. Tsukaguchi H, Matsubara H, Aritaki S, Kimura T, Abe S, Inada M: Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. Biochem Biophys Res Commun 197;1993:1000-1010.
7. Rosenthal W, Antaramian A, Gilbert S, Birnbaumer M: Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase. J Biol Chem 1993;268:13030-13033.
8. Merendino J, Speigel AM, Crawford JD, O'Carroll AM, Brownstein MJ, Lolait SJ: Brief report: A mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. N Engl J Med 1993;328: 1538-1541.
9. Knoers NV, van den Ouweland AM, Verdijk M, Monnens LA, van Oost BA: Inheritence of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus. Kidney Int 1994;46:170-176.
10. Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR: Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am J Hum Genet 1994; 55:266-277.
11. Bichet DG, Birnbaumer M, Lonergan M, et al.: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet 1994;55: 278-286.
12. Wenkert D, Merendino JJ, Shenker A, et al.: Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. Hum Mol Genet 1994;3:1429-1430.
13. Friedman E, Bale AE, Carson E, et al.: Nephrogenic diabetes insipidus: An X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proc Natl Acad Sci USA 1994;91:8457-8461.
14. Faa V, Ventruto ML, Loche S, et al.: Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. Hum Mol Genet 1994;3:1685-1686.
15. 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 1994;269:31933-31937.
16. Oksche A, Dickson J, Schulein R, et al.: Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus. Biochem Biophys Res Commun 1994;205:552-557.
17. Deen PM, Verdijk MA, Knoers NV, et al.: Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science (Washington DC) 1994;264:92-95.
18. van Lieburg AF, Verdijk MA, Knoers W, et al.: Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet 1994;55:648-652.
19. 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 the Gs/adenylyl cyclase system. Mol Endocrinol 1994;8:886-894.
20. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenolchloroform extraction. Anal Biochem 1987;162:156-159.
21. Bichet DG, Arthus MF, Lonergan M, et al.: X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest 1993;92:1262-1268.
22. Karnik SS, Sakmar TP, Chen HB, Khorana G: Cysteine residues 110 and 187 are essential for the formation of correct structure in bovine rhodopsin. Proc Natl Acad Sci USA 1988;85:8459-8463.
23. Fraser CM: Site-directed mutagenesis of β-adrenergic receptors: Identification of conserved cysteine residues that independently affect ligand binding and receptor activation. J Biol Chem 1989;264:9266-9270.
24. Yamano Y, Ohyama K, Chaki S, Guo DF, Inagami T: Identification of amino acid residues of rat angiotensin II receptor for ligand binding by site directed mutagenesis. Biochem Biophys Res Commun 1992;187:1426-1431.