Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response

Human Molecular Genetics

Volumn 6, Issue 11, 1997, Pages 1865-1871

  Canfield, Marie C ^a   Tamarappoo, B K ^c   Moses, Arnold M ^a   Verkman, A S ^c   Holtzman, Eli J ^a,b  

^a State University of New York Upstate Medical University: College of Medicine   (United States)

^b SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN; COMPLEMENTARY RNA; CYSTEINE; DESMOPRESSIN; MERCURY DERIVATIVE;

ADULT; ANIMAL CELL; ARTICLE; CASE REPORT; CELL MEMBRANE; CELLULAR DISTRIBUTION; CHO CELL; ENDOPLASMIC RETICULUM; ENDOSOME; EXON; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOTE; HORMONE RESPONSE; HUMAN; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; OOCYTE; POINT MUTATION; POLYURIA; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; URINE VOLUME; WATER PERMEABILITY; XENOPUS;

AMINO ACID SEQUENCE; ANIMALS; AQUAPORIN 2; AQUAPORIN 6; AQUAPORINS; CHO CELLS; CRICETINAE; DEAMINO ARGININE VASOPRESSIN; DIABETES INSIPIDUS, NEPHROGENIC; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPOGLYCEMIC AGENTS; ION CHANNELS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 0030729551     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.11.1865     Document Type: Article

References (39)

1. McIlraith, C.H. (1892) Notes on some cases of diabetes insipidus with marked family and heriditary tendencies. Lancet, ii, 767-768.
2. Lindshaw, M.A. (1991) In Jacobson, H. R., Striker, G. E., and Klahr, S. (eds), Principles and Practice of Nephrology. B.C. Decker, PA, pp. 426-430.
3. Brown, D. and Orci, L. (1983) Vasopressin stimulates formation of coated pits in rat kidney collecting ducts. Nature, 302, 253-255.
4. Muller, J., Kachadorian, W.A. and DiScala, V.A. (1980) Evidence that ADH-stimulated intramembrane particle aggregates are transferred from cytoplasmic to luminal membranes in toad bladder epithelial cells. J. Cell. Biol., 85, 83-95.
5. Wade, J.B. (1978) Membrane structural specialization of the toad urinary bladder revealed by the freeze-fracture technique. III. Location, structure and vasopressin dependence of intramembrane particle arrays. J. Membr. Biol., 40, 281-296.
6. van Lieburg, A.F., Verdijk, M.A., Schoute, F., Ligtenberg, M.J., van Oost, B.A., Waldhauser, F., Dobner, M., Monnens, L.A. and Knoers, N.V. (1995) Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for avasopressin type 2 receptor mutation. Hum. Genet., 96, 70-78.
7. Holtzman, E.J., Kolakowski, L.F. and Ausiello, D.A. (1995) The molecular biology of congenital nephrogenic diabetes insipidus. In Schlondorff, A. B. (ed.), Molecular Nephrology. Marcel Dekker, New York, pp. 887-912.
8. Holtzman, E.J. and Ausiello, D.A. (1994) Nephrogenic diabetes insipidus causes revealed. Hasp. Pract., 29, 89-104.
9. Holtzman, E.J., Kolakowski, L.F., Geifman-Holtzman, O., O'Brien, D.M., Guillot, A.P. and Ausiello, D.A. (1994) Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus. J. Am. Soc. Nephrol., 5, 169-176.
10. Holtzman, E.J., Kolakowski, L.F., O'Brien, D., Crawford, J.D. and Ausiello, D.A. (1993) A null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred. Hum. Mol. Genet., 2, 1201-1204.
11. Fujiwara, T.M., Morgan, K. and Bichet, D.G. (1995) Molecular biology of diabetes insipidus. Anna. Rev. Med., 46, 331-343.
12. Holtzman, E.J., Harris, H.W., Kolakowski, L.F., Guay-Woodford, L., Botelho, B. and Ausiello, D.A. (1993) A molecular defect in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus. New Engl. J. Med., 328, 1534-1537.
13. Bichet, D.G., Arthus, M.F., Lonergan, M., Hendy, G.N., Paradis, A.J., Fujiwara, T.M., Morgan, K., Gregory, M.C., Rosenthal, W., Didwania, A. et al. (1993) X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J. Clin. Invest., 92, 1262-1268.
14. Langley, J.M., Balfe, J.W., Selander, T., Ray, P.N. and Clarke, J.T. (1991) Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus Am. J. Med. Genet., 38, 90-94.
15. Deen, P.M., Verdijk, M.A., Knoers, N.V., Wieringa, B., Monnens, L.A., van-Os, C.H. and van-Oost, B.A. (1994) Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science, 264, 92-95.
16. King, L.S. and Agre, P. (1996) Pathophysiology of the aquaporin water channels Anna. Rev. Physiol., 58, 619-648.
17. Preston, G.M., Carroll, T.P., Guggino, W.B. and Agre, P. (1992) Appearance of water channels in Xenopus oocytes expressing red cell CHIP28 protein. Science, 256, 385-387.
18. Nielsen, S., Smith, B.L., Christensen, E.I. and Agre, P. (1993) Distribution of the aquaporin CHIP in secretory and resorptive epithelia and capillarty endothelia. Proc. Natl Acad. Sci. USA, 90, 7275-7279.
19. Sabolic, I., Valenti, G., Verbavatz, J.-M., Van Hoek, A.N., Verkman, A.S., Ausiello, D.A. and Brown, D. (1992) Localization of the CHIP28 water channel in rat kidney. Am. J. Physiol., 263, C1225-C1233.
20. Zhang, R., Logee, K. and Verkman, A.S. (1990) Expression of mRNA coding for kidney and red cell water channels in Xenopus oocyles. J. Biol. Chem., 265, 15375-15378.
21. Fushimi, K., Uchida, S., Hara, Y., Hirata, Y., Marumo, F. and Sasaki, S. (1993) Cloning and expression of apical membrane water channel of rat kidney collecting tubule. Nature, 361, 549-552.
22. Sasaki, K., Saito, H., Saito, F., Fushimi, K., Uchida, S., Rai, Y., Ikeuchi, T., Inui, K. and Marumo, F. (1993) Cloning, expression and chromosomal mapping of human collecting duct water channel (hWCH-CD). J. Am. Soc. Nephrol., 4, 858-862.
23. Frigeri, A., Cropper, M., Turck, C.W. and Verkman, A.S. (1995) Immunolocalization of the mercurial-insensitive water channel and glycerol intrinsic protein in epithelial cell plasma membranes. Proc. Natl Acad. Sci. USA, 92, 4328-4331.
24. Bimbaumer, M., Seibold, A., Gilbert, S., Ishido, M., Barberis, C., Antaramian, A., Brabet, P. and Rosenthal, W. (1992) Molecular cloning of the receptor for human antidiuretic hormone. Nature, 357, 333-335.
25. Bai, L., Fushimi, K., Sesaki, S. and Marumo, F. (1996) Structure of aquaporin-2 water channel. J. Biol. Chem., 271, 5171-5176.
26. Moses, A.M., Scheinman, S.J. and Oppenheim, A. (1984) Marked hypotonic polyuria resulting from nephrogenic diabetes insipidus with partial sensitivity to vasopressin. J. Clin. Endocrinol. Metab., 59, 1044-1049.
27. Agre, P., Preston, G.M., Smith, B.L., Jung, J.S., Raina, S., Moon, C, Guggino, W.B. and Nielsen, S. (1993) Aquaporin CHIP: the archetypal molecular water channel. Am. J. Physiol., 265, F463-F476.
28. Knepper, M.A. (1994) The aquaporin family of molecular water channels. Proc. Natl Acad. Sci. USA, 91, 6255-6258.
29. Zhang, R., van Hoek, A.N., Biwersi, J. and Verkman, A.S. (1993) A point mutation at cysteine 189 blocks the water permeability of rat kidney water channel CHIP28k. Biochemistry, 32, 2938-2941.
30. Preston, G.M., Jung, J.S., Guggino, W.B. and Agre, P. (1993) The mercury-sensitive residue at cysteine 189 in the CHIP28 water channel. J. Biol. Chem., 268, 17-20.
31. Schoneberg, T., Yun, J., Wenkert, D., Wess, J.M. (1996) Functional rescue of mutant V2 vasopressin receptors causing nephrogenic diabetes insipidus by a co-expressed receptor polypeptide. EMBO J., 15, 1283-1291.
32. Deen, P.M.T., Croes, H., Van Aubel, R.A.M.H., Ginsel, L.A. and Van Os. C.H. (1995) Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. J. Clin. Invest., 95, 2291-2296.
33. Van Lieburg, A.F., Verdijk, M.A.J., M., K.V.V.A., Van Essen, A.J., Proesmans, W., Mallmann, R., Monnens, L.A.H., Van Oost, B.A. and Deen, P.M.T. (1994) Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin2 water-channel gene. Am. J. Hum. Genet., 55, 648-652.
34. Mulders, S.M., Knoers, N.V.A.M., Van Lieburg, A.F., Monnens, L.A.H., Leumann, E., Wuhl, E., Schober, E., Rijss, J.P.L., van Os, C.H. and Deen, P.M.T. (1997) New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. J. Am. Soc. Nephrol., 8, 242-248.
35. Hiller, M.M., Finger, A., Schweiger, M. and Wolf, D.H. (1996) ER degradation of a misfolded luminal protein by the cytosolic ubiquitin-proteasome pathway. Science, 273, 1725-1728.
36. Yang B., Brown, D. and Verkman, D.A.S. (1996) The mercurial insensitive water channel (AQP-4) forms orthogonal arrays in stably transfected Chinese hamster ovary cells. J. Biol. Chem., 271, 4577-4580.
37. Farinas, J., Kneen, M., Moore, M. and Verkman, A.S. (1997) Plasma membrane water permeability of cultured cells and epithelia measured by light microscopy with spatial filtering J. Gen. Physiol., in press.
38. Bichet, D.G., Arthus, M.F., Lonergan, M., Balfe, W., Skorecki, K., Nivet, H., Robertson, G., Oksche, A., Rosenthal, W., Fujiwara, M., Morgan, K. and Sasaki, S. (1995) Autosomal dominant and autosomal recessive nephrogenic diabetes insipidus: novel mutations in the AQP2 gene. J. Am. Soc. Nephrol., 6, 717 Abstract 2168.
39. Hochberg, Z., Van Lieburg, A., Even, L., Brenner, B., Lanir, N., Van Oost, B.A. and Knores, N.V. (1997) Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation. J. Clin. Endo. Metab., 82, 686-689.