Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: Importance of a mild phenotype

American Journal of Physiology - Renal Physiology

Volumn 297, Issue 2, 2009, Pages

  Guyon, Cécile ^a   Lussier, Yoann ^a   Bissonnette, Pierre ^a   Leduc Nadeau, Alexandre ^a   Lonergan, Michèle ^b   Arthus, Marie Françoise ^b   Perez, Rafael Bedoya ^c   Tiulpakov, Anatoly ^d   Lapointe, Jean Yves ^a   Bichet, Daniel G ^a,b  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b Centre de Recherche Hopital Du Sacre Coeur de Montreal   (Canada)

^c Hospital Infanta Luisa   (Spain)

^d N N BLOKHIN NATIONAL MEDICAL RESEARCH CENTER OF ONCOLOGY   (Russian Federation)

Author keywords

Functional expression; Water channel; Xenopus oocyte

Indexed keywords

AQUAPORIN 2;

ANIMAL CELL; ARTICLE; CELL MEMBRANE PERMEABILITY; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HUMAN; IMMUNOFLUORESCENCE; MALE; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; OOCYTE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN TARGETING; SCHOOL CHILD; WATER PERMEABILITY; XENOPUS;

EID: 68049092058     PISSN: 1931857X     EISSN: 15221466     Source Type: Journal    
DOI: 10.1152/ajprenal.90589.2008     Document Type: Article

References (28)

1. Agre P, Nielsen S. The aquaporin family of water channels in kidney. Nephrologie 17: 409-415, 1996.
2. Bichet DG. Nephrogenic diabetes insipidus. Am J Med 105: 431-442, 1998.
3. +-glucose cotransporter in Xenopus laevis oocytes. J Physiol 520: 359-371, 1999.
4. Buck TM, Eledge J, Skach WR. Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum. Am J Physiol Cell Physiol 287: C1292-C1299, 2004.
5. De Mattia F, Savelkoul PJ, Kamsteeg EJ, Konings IB, van der Sluijs P, Mallmann R, Oksche A, Deen PM. Lack of arginine vasopressininduced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus. J Am Soc Nephrol 16: 2872-2880, 2005.
6. Deen PM, Marr N, Kamsteeg EJ, van Balkom BW. Nephrogenic diabetes insipidus. Curr Opin Nephrol Hypertens 9: 591-595, 2000.
7. +/glucose cotransport. Proc Natl Acad Sci USA 98: 3796-3801, 2001.
8. Frokiaer J, Marples D, Knepper MA, Nielsen S. Pathophysiology of aquaporin-2 in water balance disorders. Am J Med Sci 316: 291-299, 1998.
9. Fujiwara TM, Bichet DG. Molecular biology of hereditary diabetes insipidus. J Am Soc Nephrol 16: 2836-2846, 2005.
10. Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S. Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function. J Clin Endocrinol Metab 83: 3205-3209, 1998.
11. Hendriks G, Koudijs M, van Balkom BW, Oorschot V, Klumperman J, Deen PM, van der Sluijs P. Glycosylation is important for cell surface expression of the water channel aquaporin-2 but is not essential for tetramerization in the endoplasmic reticulum. J Biol Chem 279: 2975-2983, 2004.
12. Iolascon A, Aglio V, Tamma G, D'Apolito M, Addabbo F, Procino G, Simonetti MC, Montini G, Gesualdo L, Debler EW, Svelto M, Valenti G. Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus. Nephron Physiol 105: p33-P41, 2007.
13. Kamsteeg EJ, Deen PM. Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus. Am J Physiol Renal Physiol 279: F778-F784, 2000.
14. Kamsteeg EJ, Deen PM, van Os CH. Defective processing and trafficking of water channels in nephrogenic diabetes insipidus. Exp Nephrol 8: 326-331, 2000.
15. Kamsteeg EJ, Heijnen I, van Os CH, Deen PM. The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers. J Cell Biol 151: 919-930, 2000.
16. Kamsteeg EJ, Wormhoudt TA, Rijss JP, van Os CH, Deen PM. An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus. EMBO J 18: 2394-2400, 1999.
17. Kuwahara M, Iwai K, Ooeda T, Igarashi T, Ogawa E, Katsushima Y, Shinbo I, Uchida S, Terada Y, Arthus MF, Lonergan M, Fujiwara TM, Bichet DG, Marumo F, Sasaki S. Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus. Am J Hum Genet 69: 738-748, 2001.
18. Leduc-Nadeau A, Lahjouji K, Bissonnette P, Lapointe JY, Bichet DG. Elaboration of a novel technique for the purification of plasma membranes from Xenopus laevis oocytes. Am J Physiol Cell Physiol 292: C1132-C1136, 2007.
19. Lin SH, Bichet DG, Sasaki S, Kuwahara M, Arthus MF, Lonergan M, Lin YF. Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. J Clin Endocrinol Metab 87: 2694-2700, 2002.
20. Marr N, Bichet DG, Hoefs S, Savelkoul PJ, Konings IB, De Mattia F, Graat MP, Arthus MF, Lonergan M, Fujiwara TM, Knoers NV, Landau D, Balfe WJ, Oksche A, Rosenthal W, Muller D, Van Os CH, Deen PM. Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. J Am Soc Nephrol 13: 2267-2277, 2002.
21. Mulders SM, Bichet DG, Rijss JP, Kamsteeg EJ, Arthus MF, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os CH, Deen PM. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. J Clin Invest 102: 57-66, 1998.
22. Nielsen S, Frokiaer J, Marples D, Kwon TH, Agre P, Knepper MA. Aquaporins in the kidney: from molecules to medicine. Physiol Rev 82: 205-244, 2002.
23. Nielsen S, Kwon TH, Christensen BM, Promeneur D, Frokiaer J, Marples D. Physiology and pathophysiology of renal aquaporins. J Am Soc Nephrol 10: 647-663, 1999.
24. Tamarappoo BK, Verkman AS. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. J Clin Invest 101: 2257-2267, 1998.
25. Umenishi F, Narikiyo T, Schrier RW. Effect on stability, degradation, expression, and targeting of aquaporin-2 water channel by hyperosmolality in renal epithelial cells. Biochem Biophys Res Commun 338: 1593-1599, 2005.
26. Van Balkom BW, van Raak M, Breton S, Pastor-Soler N, Bouley R, van der Sluijs P, Brown D, Deen PM. Hypertonicity is involved in redirecting the aquaporin-2 water channel into the basolateral, instead of the apical, plasma membrane of renal epithelial cells. J Biol Chem 278: 1101-1107, 2003.
27. Wagner CA, Friedrich B, Setiawan I, Lang F, Broer S. The use of Xenopus laevis oocytes for the functional characterization of heterologously expressed membrane proteins. Cell Physiol Biochem 10: 1-12, 2000.
28. +/glucose cotransporter under isotonic conditions. Biol Cell 89: 307-312, 1997.