CLC chloride channels and transporters

Current Opinion in Neurobiology

Volumn 15, Issue 3 SPEC. ISS., 2005, Pages 319-325

  Jentsch, Thomas J ^a   Neagoe, Ioana ^a   Scheel, Olaf ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BACTERIAL PROTEIN; CHLORIDE CHANNEL; ESCHERICHIA COLI PROTEIN; PROTEIN CLC; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ACIDIFICATION; ALBERS SCHOENBERG DISEASE; CELL MEMBRANE; CHANNEL GATING; CHLORIDE TRANSPORT; ENDOSOME; ESCHERICHIA COLI; INNER EAR; KIDNEY; LYSOSOME; LYSOSOME STORAGE DISEASE; MEMBRANE CHANNEL; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; REVIEW; SYNAPSE VESICLE;

EID: 20444410100     PISSN: 09594388     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.conb.2005.05.002     Document Type: Review

References (55)

1. T.J. Jentsch, K. Steinmeyer, and G. Schwarz Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes Nature 348 1990 510 514
2. C. Miller, and M.M. White Dimeric structure of single chloride channels from Torpedo electroplax Proc Natl Acad Sci USA 81 1984 2772 2775
3. + exchanger. Neutralizing a glutamate residue implicated in the gating of CLC channels abolished the coupling to protons, resulting in an anion conductive pathway. Because the plasma membrane branch of CLC proteins encodes chloride channels, one wonders whether some vesicular CLC proteins also display exchange activity.
4. R. Dutzler, E.B. Campbell, M. Cadene, B.T. Chait, and R. MacKinnon X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity Nature 415 2002 287 294
5. -. This is supported by the electrophysiological analysis of the corresponding mutant of ClC-0.
6. - channels gleaned from human genetic disease and mouse models Annu Rev Physiol 67 2005 779 807
7. U. Ludewig, M. Pusch, and T.J. Jentsch Two physically distinct pores in the dimeric ClC-0 chloride channel Nature 383 1996 340 343
8. R.E. Middleton, D.J. Pheasant, and C. Miller Homodimeric architecture of a ClC-type chloride ion channel Nature 383 1996 337 340
9. F. Weinreich, and T.J. Jentsch Pores formed by single subunits in mixed dimers of different CLC chloride channels J Biol Chem 276 2001 2347 2353
10. M. Pusch, U. Ludewig, A. Rehfeldt, and T.J. Jentsch Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion Nature 373 1995 527 531
11. S. Waldegger, and T.J. Jentsch Functional and structural analysis of ClC-K chloride channels involved in renal disease J Biol Chem 275 2000 24527 24533
12. +-secretion Nature 414 2001 558 561
13. S. Traverso, L. Elia, and M. Pusch Gating competence of constitutively open CLC-0 mutants revealed by the interaction with a small organic Inhibitor J Gen Physiol 122 2003 295 306 Together with the companion paper by Accardi and Pusch [16], this careful study, which exploits the voltage-dependent binding of inhibitors to ClC-0 mutants, shows that gating of ClC-0 involves a larger conformational change than just a relocation of the negative side chain of the 'gating glutamate'.
14. - binding site.
15. --channel inhibitors than the highly homologous ClC-Kb/barttin. The authors use sequence comparisons and the crystal structure of the bacterial proteins to nail down the structural basis for this difference to two residues that expose their side chains to the extracellular pore mouth.
16. A. Accardi, and M. Pusch Conformational changes in the pore of CLC-0 J Gen Physiol 122 2003 277 293
17. J.D. Faraldo-Gómez, and B. Roux Electrostatics of ion stabilization in a ClC chloride channel homologue from Escherichia coli J Mol Biol 339 2004 981 1000
18. J. Cohen, and K. Schulten Mechanism of anionic conduction across ClC Biophys J 86 2004 836 845
19. - pores: electrostatic effects of charged residues Biophys J 86 2004 825 835
20. R. Estévez, M. Pusch, C. Ferrer-Costa, M. Orozco, and T.J. Jentsch Functional and structural conservation of CBS domains from CLC chloride channels J Physiol 557 2004 363 378
21. S. Hebeisen, A. Biela, B. Giese, G. Muller-Newen, P. Hidalgo, and C. Fahlke The role of the carboxyl terminus in ClC chloride channel function J Biol Chem 279 2004 13140 13147
22. J.W. Scott, S.A. Hawley, K.A. Green, M. Anis, G. Stewart, G.A. Scullion, D.G. Norman, and D.G. Hardie CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations J Clin Invest 113 2004 274 284 This work shows for the first time that CBS domains, which are present in two copies in the cytoplasmic tail of mammalian CLCs and in many other unrelated proteins, are able to bind ATP and ADP in vitro. This binding is affected by several disease-causing mutations in several unrelated genes. This work could revolutionize our understanding of the function of CBS domains.
23. •]. A point mutation between the CBS domains slightly affected the influence of AMP on gating kinetics.
24. •].
25. --channel disruption EMBO J 20 2001 1289 1299
26. - channel does not exacerbate the cystic fibrosis phenotype of CFTR mouse models J Biol Chem 279 2004 22276 22283 The authors test the hypothesis that ClC-2 might compensate for CFTR deficiency by generating and analyzing double KO mice. Surprisingly, they survive better than CFTR KO mice. The data suggest that ClC-2 is not co-localized with CFTR in apical membranes, but, rather, is a basolateral channel in the colon.
27. M. Catalán, I. Cornejo, C.D. Figueroa, M.I. Niemeyer, F.V. Sepúlveda, and L.P. Cid ClC-2 in guinea pig colon: mRNA, immunolabeling, and functional evidence for surface epithelium localization Am J Physiol Gastrointest Liver Physiol 283 2002 G1004 G1013
28. A receptor function following gene transfer of the CLC-2 chloride channel Neuron 17 1996 543 551
29. D. D'Agostino, M. Bertelli, S. Gallo, S. Cecchin, E. Albiero, P.G. Garofalo, A. Gambardella, J.M. St Hilaire, H. Kwiecinski, and E. Andermann Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy Neurology 63 2004 1500 1502
30. D.B. Simon, R.S. Bindra, T.A. Mansfield, C. Nelson-Williams, E. Mendonca, R. Stone, S. Schurman, A. Nayir, H. Alpay, and A. Bakkaloglu Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III Nat Genet 17 1997 171 178
31. Y. Matsumura, S. Uchida, Y. Kondo, H. Miyazaki, S.B. Ko, A. Hayama, T. Morimoto, W. Liu, M. Arisawa, and S. Sasaki Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel Nat Genet 21 1999 95 98
32. R. Birkenhäger, E. Otto, M.J. Schürmann, M. Vollmer, E.M. Ruf, I. Maier-Lutz, F. Beekmann, A. Fekete, H. Omran, and D. Feldmann Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure Nat Genet 29 2001 310 314
33. K.P. Schlingmann, M. Konrad, N. Jeck, P. Waldegger, S.C. Reinalter, M. Holder, H.W. Seyberth, and S. Waldegger Salt wasting and deafness resulting from mutations in two chloride channels N Engl J Med 350 2004 1314 1319
34. H.M. Embark, C. Bohmer, M. Palmada, J. Rajamanickam, A.W. Wyatt, S. Wallisch, G. Capasso, P. Waldegger, H.W. Seyberth, and S. Waldegger Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases Kidney Int 66 2004 1918 1925
35. --channel mutated in Dent's disease J Biol Chem 276 2001 12049 12054
36. D.H. Hryciw, J. Ekberg, A. Lee, I.L. Lensink, S. Kumar, W.B. Guggino, D.I. Cook, C.A. Pollock, and P. Poronnik Nedd4-2 functionally interacts with ClC-5: involvement in constitutive albumin endocytosis in proximal tubule cells J Biol Chem 279 2004 54996 55007
37. N. Jeck, P. Waldegger, J. Doroszewicz, H. Seyberth, and S. Waldegger A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity Kidney Int 65 2004 190 197
38. N. Jeck, S. Waldegger, A. Lampert, C. Boehmer, P. Waldegger, P.A. Lang, B. Wissinger, B. Friedrich, T. Risler, and R. Moehle Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension Hypertension 43 2004 1175 1181
39. D.S. Geller A genetic predisposition to hypertension? Hypertension 44 2004 27 28
40. T. Friedrich, T. Breiderhoff, and T.J. Jentsch Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents J Biol Chem 274 1999 896 902
41. --channel disruption impairs endocytosis in a mouse model for Dent's disease Nature 408 2000 369 373
42. E.I. Christensen, O. Devuyst, G. Dom, R. Nielsen, P. Van der Smissen, P. Verroust, M. Leruth, W.B. Guggino, and P.J. Courtoy Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules Proc Natl Acad Sci USA 100 2003 8472 8477
43. W. Günther, N. Piwon, and T.J. Jentsch The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease Pflugers Arch 445 2003 456 462 This paper examines the hypothesis - already stated in Piwon et al. [41] - that hyperphosphaturia, hypercalciuria and kidney stones in Dent's disease are due to defective proximal tubular endocytosis and defective handling of calciotropic hormones. This is supported by primary data showing defective acidification of renal endosomes in the absence of ClC-5, and the induction of the enzyme producing the active vitamin D metabolite.
44. S.M. Stobrawa, T. Breiderhoff, S. Takamori, D. Engel, M. Schweizer, A.A. Zdebik, M.R. Bösl, K. Ruether, H. Jahn, and A. Draguhn Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus Neuron 29 2001 185 196
45. - increases in parallel to acidification. Both changes are less pronounced in hepatocytes from ClC-3 KO mice.
46. G. Salazar, R. Love, M.L. Styers, E. Werner, A. Peden, S. Rodriguez, M. Gearing, B.H. Wainer, and V. Faundez AP-3-dependent mechanisms control the targeting of a chloride channel (ClC-3) in neuronal and non-neuronal cells J Biol Chem 279 2004 25430 25439
47. E. Seong, B.H. Wainer, E.D. Hughes, T.L. Saunders, M. Burmeister, and V. Faundez Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain Mol Biol Cell 16 2005 128 140
48. T. Ogura, T. Furukawa, T. Toyozaki, K. Yamada, Y.J. Zheng, Y. Katayama, H. Nakaya, and N. Inagaki ClC-3B, a novel ClC-3 splicing variant that interacts with EBP50 and facilitates expression of CFTR-regulated ORCC FASEB J 16 2002 863 865
49. M. Gentzsch, L. Cui, A. Mengos, X.B. Chang, J.H. Chen, and J.R. Riordan The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with CFTR-interacting PDZ proteins J Biol Chem 278 2003 6440 6449
50. R. Mohammad-Panah, R. Harrison, S. Dhani, C. Ackerley, L.J. Huan, Y. Wang, and C.E. Bear The chloride channel ClC-4 contributes to endosomal acidification and trafficking J Biol Chem 278 2003 29267 29277
51. T. Wang, and S.A. Weinman Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin Gastroenterology 126 2004 1157 1166
52. U. Kornak, D. Kasper, M.R. Bösl, E. Kaiser, M. Schweizer, A. Schulz, W. Friedrich, G. Delling, and T.J. Jentsch Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man Cell 104 2001 205 215
53. D. Kasper, R. Planells-Cases, J.C. Fuhrmann, O. Scheel, O. Zeitz, K. Ruether, A. Schmitt, M. Poet, R. Steinfeld, and M. Schweizer Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration EMBO J 24 2005 1079 1091 The authors find that besides osteopetrosis, ClC-7 KO mice also display CNS degeneration with the typical morphological and biochemical hallmarks of lysosomal storage disease. Such changes are much less pronounced or absent in ClC-3 KO mice, which show a different form of CNS degeneration [44]. The bone phenotype is rescued by expressing ClC-7 in osteoclasts, with no effect on CNS or retinal degeneration and only slightly improved survival. Surprisingly, lysosomal pH is unchanged in cultured ClC-7 KO neurons.
54. E. Cleiren, O. Benichou, E. Van Hul, J. Gram, J. Bollerslev, F.R. Singer, K. Beaverson, A. Aledo, M.P. Whyte, and T. Yoneyama Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene Hum Mol Genet 10 2001 2861 2867
55. A. Frattini, A. Pangrazio, L. Susani, C. Sobacchi, M. Mirolo, M. Abinun, M. Andolina, A. Flanagan, E.M. Horwitz, and E. Mihci Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis J Bone Miner Res 18 2003 1740 1747