A role for CBS domain 2 in trafficking of chloride channel CLC-5

Biochemical and Biophysical Research Communications

Volumn 310, Issue 2, 2003, Pages 600-605

  Carr, Georgina ^a   Simmons, Nicholas ^a   Sayer, John ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Acidic endosomes; CBS domain; Chloride channel; Dent's disease; Golgi; Mutation; Sorting

Indexed keywords

CHLORIDE; CHLORIDE CHANNEL; PROTEIN; PROTEIN CBS; PROTEIN CLC 5; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELLULAR DISTRIBUTION; CHO CELL; CONTROLLED STUDY; ENDOSOME; GENE MUTATION; GOLGI COMPLEX; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0141793708     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2003.09.057     Document Type: Article

References (20)

1. Wrong O.M., Norden A.G.W., Feest T.G. 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. QJM. 87:1994;473-493.
2. Scheinman S.J. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int. 53:1998;3-17.
3. 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., Thakker R.V. A common molecular basis for three inherited kidney stone diseases. Nature. 379:1996;445-449.
4. Ponting C.P. CBS domains in CIC chloride channels implicated in myotonia and nephrolithiasis (kidney stones). J. Mol. Med. 75:1997;160-163.
5. Bateman A. The structure of a domain common to archaebacteria and the homocystinuria disease protein. Trends Biochem. Sci. 22:1997;12-13.
6. Lloyd S.E., Pearce S.H., Gunther W., Kawaguchi H., Igarashi T., Jentsch T.J., Thakker R.V. 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. 99:1997;967-974.
7. Lloyd S.E., Gunther W., Pearce S.H., Thomson A., Bianchi M.L., Bosio M., Craig I.W., Fisher S.E., Scheinman S.J., Wrong O., Jentsch T.J., Thakker R.V. Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. Hum. Mol. Genet. 6:1997;1233-1239.
8. Maduke M., Pheasant D.J., Miller C. High-level expression, functional reconstitution, and quaternary structure of a prokaryotic ClC-type chloride channel. J. Gen. Physiol. 114:1999;713-722.
9. Mindell J.A., Maduke M., Miller C., Grigorieff N. Projection structure of a ClC-type chloride channel at 6.5 Å resolution. Nature. 409:2001;219-223.
10. Dutzler R., Campbell E.B., Cadene M., Chait B.T., MacKinnon R. X-ray structure of a ClC chloride channel at 3.0 Å reveals the molecular basis of anion selectivity. Nature. 415:2002;287-294.
11. (-) conductances of mouse renal collecting duct cells (mIMCD-3). J. Physiol. 536:2001;769-783.
12. Jentsch T.J., Stein V., Weinreich F., Zdebik A.A. Molecular structure and physiological function of chloride channels. Physiol. Rev. 82:2002;503-568.
13. Beck C.L., Fahlke C., George A.L. Molecular basis for decreased muscle chloride conductance in the myotonic goat. Proc. Natl. Acad. Sci. USA. 93:1996;11248-11252.
14. Schmidt-Rose T., Jentsch T.J. Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1. J. Biol. Chem. 272:1997;20515-20521.
15. Hryciw D.H., Rychkov G.Y., Hughes B.P., Bretag A.H. Relevance of the D13 region to the function of the skeletal muscle chloride channel, ClC-1. J. Biol. Chem. 273:1998;4304-4307.
16. Maduke M., Williams C., Miller C. Formation of CLC-0 chloride channels from separated transmembrane and cytoplasmic domains. Biochemistry. 37:1998;1315-1321.
17. Schwappach B., Stobrawa S., Hechenberger M., Steinmeyer K., Jentsch T.J. Golgi localization and functionally important domains in the NH2 and COOH terminus of the yeast CLC putative chloride channel Gef1p. J. Biol. Chem. 273:1998;15110-15118.
18. Jamieson J.D. The Golgi complex: perspectives and prospectives. Biochim. Biophys. Acta. 1404:1998;3-7.
19. Schwake M., Friedrich T., Jentsch T.J. An internalization signal in ClC-5, an endosomal Cl-channel mutated in Dent's disease. J. Biol. Chem. 276:2001;12049-12054.
20. --channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature. 408:2000;369-373.