Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease

Human Molecular Genetics

Volumn 8, Issue 2, 1999, Pages 247-257

  Devuyst, Olivier ^a   Christie, Paul T ^b   Courtoy, Pierre J ^c   Beauwens, Renaud ^d   Thakker, Rajesh V ^b  

^a UNIVERSITY OF LOUVAIN MEDICAL SCHOOL   (Belgium)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c DE DUVE INSTITUTE   (Belgium)

^d FREE UNIVERSITY OF BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL;

ADOLESCENT; ADULT; AGED; ARTICLE; CELLULAR DISTRIBUTION; CONFOCAL MICROSCOPY; ENDOSOME; EPITHELIUM CELL; GENE EXPRESSION; HENLE LOOP; HUMAN; HUMAN TISSUE; HYPERCALCIURIA; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; KIDNEY; KIDNEY CELL; KIDNEY CORTEX; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE DISORDER; MOLECULAR WEIGHT; NEPHROLITHIASIS; NONHUMAN; NORMAL HUMAN; OPOSSUM; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEINURIA; X CHROMOSOME LINKAGE;

DIDELPHIDAE;

EID: 0032953770     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.2.247     Document Type: Article

References (47)

1. Wrong, O.M., Norden, A.G. and Feest, T.G. (1994) Dent's disease: a familial proximal renal tubular syndrome with low molecular-weight proteinuria. hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. Q. J. Med., 87, 473-493.
2. Lloyd, S.E., Pearce, S.H., Fisher, S.E., Steinmeyer, K., Schwappach, B., Scheinman, S.J., Harding, B., Bolino, A., Devoto, M., Goodyer, P., Rigden, S.P., Wrong, O., Jentsch, T.J., Craig, I.W. and Thakker, R.V. (1996) A common molecular basis for three inherited kidney stone diseases. Nature, 379, 445-449.
3. Lloyd, S.E., Pearce, S.H., Gunther, W., Kawaguchi, H., Igarashi, T., Jentsch, T.J. and Thakker, R.V. (1997) Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J. Clin. Invest., 99, 967-974.
4. Scheinman, S.J., Pook, M.A., Wooding, C., Pang, J.T., Frymoyer, P.A. and Thakker, R.V. (1993) Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J. Clin. Invest., 91, 2351-2357.
5. Jentsch T.J., Gunther, W., Pusch, M. and Schwappach, B. (1995) Properties of voltage-gated chloride channels of the CIC gene family. J. Physiol. Lond., 482, 19S-25S.
6. Fisher, S.E., Black, G.C., Lloyd, S.E., Hatchwell, E., Wrong, O., Thakker, R.V. and Craig, I.W. (1994) Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). Hum. Mol. Genet., 3, 2053-2059.
7. Thakker, R.V. (1997) Chloride channels cough up. Nature Genet., 17, 125-127.
8. Koch, M.C., Steinmeyer, K., Lorenz, C., Ricker, K., Wolf, F., Otto, M., Zoll, B., Lehmann-Horn, F., Grzeschik, K.H. and Jentsch T.J. (1992) The skeletal muscle chloride channel in dominant and recessive human myotonia. Science, 257, 797-800.
9. Simon, D.B., Bindra, R.S., Mansfield, T.A., Nelson-Williams, C., Mendonca, E., Stone, R., Schurman, S., Nayir, A., Alpay, H., Bakkaloglu, A., Rodriguez-Soriano, J., Morales, J.M., Sanjad, S.A., Taylor, C.M., Pilz, D., Brem, A., Trachtman, H., Griswold, W., Richard, G.A., John, E. and Lifton, R.P. (1997) Mutations in the chloride channel gene. CLCNKB, cause Bartter's syndrome type III. Nature Genet., 17, 171-178.
10. Hebert, S.C., Brown, E.M. and Harris, H.W. (1997) Role of the Ca(2+)-sensing receptor in divalent mineral ion homeostasis. J. Exp. Biol., 200, 295-302.
11. Christensen, E.I. and Nielsen, S. (1991) Structural and functional features of protein handling in the kidney proximal tubule. Semin. Nephrol., 11, 414-439.
12. Cupers, P., Veithen, A., Hoekstra, D., Baudhuin, P. and Courtoy, P.J. (1997) Three unrelated perturbations similarly uncouple fluid, bulk-membrane, and receptor endosomal flow in rat fetal fibroblasts. Biochem. Biophys. Res. Commun., 236, 661-664.
13. Hebert, S.C. (1996) Crystal-clear chloride channels. Nature, 379, 398-399.
14. Obermüller, N., Gretz, N., Kriz, W., Reilly, R.F. and Witzgall, R.J. (1998) The swelling-activated chloride channel CIC-2, the chloride channel CIC-3, and CIC-5, a chloride channel mutated in kidney stone disease, are expressed in distinct subpopulations of renal epithelial cells. J. Clin. Invest., 101, 635-642.
15. Steinmeyer, K., Schwappach, B., Bens, B., Vandewalle, A. and Jentsch, T.J. (1995) Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease. J. Biol. Chem., 270, 31172-31177.
16. Gunther, W., Luchow, A., Cluzeaud, F., Vandewalle, A. and Jentsch, T.J. (1998) CLC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc. Natl Acad. Sci. USA, 95, 8075-8080.
17. Aperia, A. and Celsi, G. (1992) Ontogenic processes in nephron epithelia: structure, enzymes, and function. In Seldin, D.W. and Giebisch, G. (eds). The Kidney: Physiology and Pathophysiology, Raven Press, New York, pp. 803-828.
18. Kriz, W. and Kaissling, B. (1992) Structural organization of the mammalian kidney. In Seldin, D.W. and Giebisch, G. (eds). The Kidney: Physiology and Pathophysiology, Raven Press, New York, pp. 707-777.
19. Morel, F. (1981) Site of hormone action in mammalian nephron. Am. J. Physiol., 240, F156-F164.
20. Schwegler, J.S., Heppelmann, B., Mildenberger, S. and Silbernagel, S. (1991) Receptor-mediated endocytosis of albumin in cultured opossum kidney cells: a model for proximal tubular protein reabsorption. Pflügers Arch., 418, 383-392.
21. Borsani, G., Rugarli, E.I., Taglialatela, M., Wong, C. and Ballabio, A. (1995) Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein. Genomics, 27, 131-141.
22. Van Slegtenhorst, M.A., Bassi, M.T., Borsani, G., Wapenaar, M.C., Ferrero, G.B., De Concillis, L., Rugarli, E.I., Grillo, A., Franco, B., Zoghbi, H.Y. and Ballabio, A. (1994) A gene for the Xp22.3 region shares homology with voltage-gated chloride channels. Hum. Mol. Genet., 3, 547-552.
23. Kishore, B.K., Fuming, L., Maldague, P., Tulkens, P.M. and Courtoy, P.J. (1996) Mechanism of the thesaurismosis and altered lysosomal dynamics induced by poly-D-glutamic acid in kidney proximal tubular cells. Lab. Invest., 74, 1025-1037.
24. James, D.E. and Pilch, P.F. (1988) Fractionation of endocytic vesicles and glucose-transporter-containing vesicles in rat adipocytes. Biochem. J., 256, 725-732.
25. Piper, R.C., Hess, L.J. and James, D.E. (1991) Differential sorting of two glucose transporters expressed in insulin-sensitive cells. Am. J. Physiol., 260, C570-C580.
26. Devuyst, O., Schwiebert, E.M., Montrose, M.H., Wilson, P.D. and Guggino, W.B. (1997) Trafficking of CFTR isoforms in normal and polycystic human kidney. J. Am. Soc. Nephrol., 8, 60A.
27. Simpson, I.A., Yver, D.R., Hissin, P.J., Wardzala, L.J., Kamieli, E., Salans, L.B. and Cushman, S.W. (1983) Insulin-stimulated translocation of glucose transporters in the isolated rat adipose cells: characterization of subcellular fractions. Biochim. Biophys. Acta, 763, 393-407.
28. Zerial, M. and Stenmark, H. (1993) RabGTPases in vesicular transport. Curr. Opin. Cell Biol., 5, 613-620.
29. Devarajan, P., Stabach, P.R., De Matteis, M.A. and Morrow, J.S. (1997) Na,K-ATPase transport from endoplasmic reticulum to Golgi requires the Golgi spectrin-ankyrin G119 skeleton in Madin-Darby canine kidney cells. Proc. Natl Acad. Sci. USA, 94, 10711-10716.
30. Brown, D., Hirsch, S. and Gluck, S. (1988) Localization of a proton-pumping ATPase in rat kidney. J. Clin. Invest., 82, 2114-2126.
31. +-ATPases: properties and function in acid-base homeostasis. In Schlöndorff, D. and Bonventre, J.V. (eds). Molecular Nephrology. Marcel Dekker, New York, pp. 369-414.
32. Christensen, E.I., Birn, H., Verroust, P. and Moestrup, S.K. (1998) Membrane receptors for endocytosis in the renal proximal tubule. Int. Rev. Cytol., 180, 237-283.
33. Lencer, W.I., Weyer, P., Verkman, A.S., Ausiello, D.A. and Brown, D. (1990) FITC-dextran as a probe for endosome function and localization in the kidney. Am. J. Physiol., 258, C309-C317.
34. Brunskill, N.J., Stuart, J., Tobin, A.B., Walls, J. and Nahorski, S. (1998) Receptor-mediated endocytosis of albumin by kidney proximal tubule cells is regulated by phosphatidylinositide 3-kinase. J. Clin. Invest., 101, 2140-2150.
35. Orlando, R.A., Rader, K., Authier, F., Bergeron, J.J. and Farquhar, M.G. (1995) Role of megalin (gp330) in binding low-molecular weight proteins in the renal filtrate. J. Am. Soc. Nephrol., 6, 378 (abstr.).
36. Cui, S., Verroust, P.J., Moestrup, S.K. and Christensen, E.I. (1996) Megalin/gp330 mediates uptake of albumin in renal proximal tubule. Am. J. Physiol., 271, F900-F907.
37. Golstein, J.L., Brown, M.S., Anderson, R.G.W., Russell, D.W. and Schneider, W.J. (1985) Receptor-mediated endocytosis: concept emerging from the LDL receptor system. Annu. Rev. Biol., 1, 1-39.
38. Gaxiola, R.A., Yuan, D.S., Klausner, R.D. and Fink, G.R. (1998) The yeast CLC chloride channel functions in cation homeostasis. Proc. Natl Acad. Sci. USA, 95, 4046-4050.
39. - channels. Am. J. Physiol., 273, F1030-F1038.
40. 2+-sensing receptor and PTH/PTHrH receptor in rat kidney. Am. J. Physiol., 271, F951-F956.
41. + channels in the TAL. Am. J. Physiol., 270, C103-C111.
42. +-ATPase. Proc. Natl Acad. Sci. USA, 86, 5429-5433.
43. Stokes, J.B. (1993) Ion transport by the collecting duct. Semin. Nephrol., 13, 202-212.
44. Devuyst, O., Burrow, C.R., Smith, B.L., Agre, P., Knepper, M.A. and Wilson, P.D. (1996) Expression of aquaporins-1 and -2 during nephrogenesis and in autosomal dominant polycystic kidney disease. Am. J. Physiol., 271, F169-F183.
45. Friedlander, G., Couette, S., Coureau, C. and Amiel, C. (1992) Mechanisms whereby extracellular adenosine 3′.5′-monophosphate inhibits phosphate transport in cultured opossum kidney cells and in rat kidney. J. Clin. Invest., 90, 848-858.
46. Devuyst, O., Burrow, C.R., Schwiebert, E.M., Guggino, W.B. and Wilson, P.D. (1996) Developmental regulation of CFTR expression during human nephrogenesis. Am. J. Physiol., 271, F723-F735.
47. Nielsen, S., Smith, B.L., Christensen, E.I., Knepper, M.A. and Agre, P. (1993) CHIP28 water channels are localized in constitutively water-permeable segments of the nephron. J. Cell. Biol., 120, 371-383.