Novel CLCN5 mutations in patients with dents disease result in altered ion currents or impaired exchanger processing

Kidney International

Volumn 76, Issue 9, 2009, Pages 999-1005

  Grand, Teddy ^a,b   Mordasini, David ^a,b   L'Hoste, Sébastien ^a,b   Pennaforte, Thomas ^a,b   Genete, Mathieu ^a,b   Biyeyeme, Marie Jeanne ^a,b   Vargas Poussou, Rosa ^c,d   Blanchard, Anne ^e   Teulon, Jacques ^a,b   Lourdel, Stéphane ^a,b  

^a SORBONNE UNIVERSITÉ   (France)

^b CNRS   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

Chloride proton exchanger; ClC 5; Dent's disease; Mutation

Indexed keywords

ANIMAL CELL; ARTICLE; CELL SURFACE; CHILD; DENT DISEASE; ENDOSOME; FEMALE; GENE FUNCTION; GENE MUTATION; GLYCOSYLATION; HUMAN; HUMAN CELL; KIDNEY DISEASE; MALE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; OOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME LINKED DISORDER; XENOPUS LAEVIS;

AMINO ACID SEQUENCE; ANIMALS; BIOLOGICAL TRANSPORT; CELL LINE; CELL MEMBRANE; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; CHLORIDES; CODON, NONSENSE; ENDOPLASMIC RETICULUM; ENDOSOMES; GENETIC PREDISPOSITION TO DISEASE; GLYCOSYLATION; HUMANS; INFANT; KIDNEY DISEASES; KIDNEY TUBULES, PROXIMAL; MEMBRANE POTENTIALS; MICROINJECTIONS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN TRANSPORT; RISK FACTORS; TRANSFECTION; XENOPUS LAEVIS;

EID: 70350061941     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2009.305     Document Type: Article

References (34)

1. Ludwig M, Utsch B, Monnens LA. Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease. Nephrol Dial Transplant 2006; 21: 2708-2717.
2. Hoopes Jr RR, Shrimpton AE, Knohl SJ et al. Dent Disease with mutations in OCRL1. Am J Hum Genet 2005; 76: 260-267.
3. Picollo A, Pusch M. Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. Nature 2005; 436: 420-423.
4. Scheel O, Zdebik AA, Lourdel S et al. Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Nature 2005; 436: 424-427.
5. Devuyst O, Christie PT, Courtoy PJ et al. Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 1999; 8:247-257.
6. Gunther W, Luchow A, Cluzeaud F et al. 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 1998; 95: 8075-8080.
7. Dowland LK, Luyckx VA, Enck AH et al. Molecular cloning and characterization of an intracellular chloride channel in the proximal tubule cell line, LLC-PK1. J Biol Chem 2000; 275: 37765-37773.
8. Sakamoto H, Sado Y, Naito I et al. Cellular and subcellular immunolocalization of ClC-5 channel in mouse kidney: colocalization with H+-ATPase. Am J Physiol 1999; 277: F957-F965.
9. Suzuki T, Rai T, Hayama A et al. Intracellular localization of ClC chloride channels and their ability to form hetero-oligomers. J Cell Physiol 2006; 206: 792-798.
10. Piwon N, Gunther W, Schwake M et al. ClC-5 Cl-channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 2000; 408: 369-373.
11. Hara-Chikuma M, Wang Y, Guggino SE et al. Impaired acidification in early endosomes of ClC-5 deficient proximal tubule. Biochem Biophys Res Commun 2005; 329: 941-946.
12. Gunther W, Piwon N, Jentsch TJ. The ClC-5 chloride channel knock-out mouse-an animal model for Dent's disease. Pflugers Arch 2003; 445: 456-462.
13. Christensen EI, Devuyst O, Dom G et al. Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc Natl Acad Sci USA 2003; 100: 8472-8477.
14. Hryciw DH, Wang Y, Devuyst O et al. Cofilin interacts with ClC-5 and regulates albumin uptake in proximal tubule cell lines. J Biol Chem 2003; 278: 40169-40176.
15. Hryciw DH, Ekberg J, Ferguson C et al. Regulation of albumin endocytosis by PSD95/Dlg/ZO-1 (PDZ) scaffolds. Interaction of Na+-H+ exchange regulatory factor-2 with ClC-5. J Biol Chem 2006; 281: 16068-16077.
16. Hryciw DH, Ekberg J, Lee A et al. Nedd4-2 functionally interacts with ClC-5: involvement in constitutive albumin endocytosis in proximal tubule cells. J Biol Chem 2004; 279: 54996-55007.
17. Smith AJ, Reed AA, Loh NY et al. Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure. Am J Physiol Renal Physiol 2009; 296: F390-F397.
18. Ludwig M, Doroszewicz J, Seyberth HW et al. Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. Hum Genet 2005; 117: 228-237.
19. Steinmeyer K, Schwappach B, Bens M et al. Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease. J Biol Chem 1995; 270: 31172-31177.
20. Friedrich T, Breiderhoff T, Jentsch TJ. Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents. J Biol Chem 1999; 274: 896-902.
21. Lloyd SE, Pearce SH, Fisher SE et al. A common molecular basis for three inherited kidney stone diseases. Nature 1996; 379: 445-449.
22. Jouret F, Igarashi T, Gofflot F et al. Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5. Kidney Int 2004; 65: 198-208.
23. Tanuma A, Sato H, Takeda T et al. Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease. Nephron Physiol 2007; 107: p87-p97.
24. Dutzler R, Campbell EB, Cadene M et al. X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 2002; 415: 287-294.
25. Wu F, Roche P, Christie PT et al. Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship. Kidney Int 2003; 63: 1426-1432.
26. Kunchaparty S, Palcso M, Berkman J et al. Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome. Am J Physiol 1999; 277: F643-F649.
27. de Jong JC, Willems PH, van den Heuvel LP et al. Functional expression of the human thiazide-sensitive NaCl cotransporter in Madin-Darby canine kidney cells. J Am Soc Nephrol 2003; 14: 2428-2435.
28. Schmieder S, Bogliolo S, Ehrenfeld J. N-glycosylation of the Xenopus laevis ClC-5 protein plays a role in cell surface expression, affecting transport activity at the plasma membrane. J Cell Physiol 2007; 210: 479-488.
29. Yamamoto K, Cox JP, Friedrich T et al. Characterization of renal chloride channel (CLCN5) mutations in Dent's disease. J Am Soc Nephrol 2000; 11: 1460-1468.
30. Mo L, Xiong W, Qian T et al. Coexpression of complementary fragments of ClC-5 and restoration of chloride channel function in a Dent's disease mutation. Am J Physiol Cell Physiol 2004; 286: C79-C89.
31. Wang Y, Cai H, Cebotaru L et al. ClC-5: role in endocytosis in the proximal tubule. Am J Physiol Renal Physiol 2005; 289: F850-F862.
32. Accardi A, Miller C. Secondary active transport mediated by a prokaryotic homologue of ClC Cl-channels. Nature 2004; 427: 803-807. (Pubitemid 38297735)
33. Lloyd SE, Pearce SH, Gunther W et al. 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 1997; 99: 967-974.
34. Zerangue N, Schwappach B, Jan YN et al. A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels. Neuron 1999; 22: 537-548.