A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity

Kidney International

Volumn 65, Issue 1, 2004, Pages 190-197

  Jeck, Nikola ^a   Waldegger, Petra ^a   Doroszewicz, Jolanta ^a   Seyberth, Hannsjörg ^a   Waldegger, Siegfried ^a,b  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY HOSPITAL MARBURG   (Germany)

Author keywords

Distal nephron; Electrophysiology; Hypertension; Ion channel; SNP

Indexed keywords

ANIMAL CELL; ARTICLE; BETA CHAIN; BLOOD PRESSURE REGULATION; CHLORIDE CONDUCTANCE; CLCNKB GENE; ELECTROPHYSIOLOGY; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE; GENE ACTIVATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; HYPERTENSION; MOLECULAR GENETICS; NONHUMAN; PRIORITY JOURNAL; VOLTAGE CLAMP;

EID: 0347362500     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1523-1755.2004.00363.x     Document Type: Article

References (20)

1. JENTSCH TJ, STEIN V, WEINREICH F, ZDEBIK AA: Molecular structure and physiological function of chloride channels. Physiol Rev 82:503-568, 2002
2. KIEFERLE S, FONG P, BENS M, et al: Two highly homologous members of the ClC chloride channel family in both rat and human kidney. Proc Natl Acad Sci USA 91:6943-6947, 1994
3. UCHIDA S: In vivo role of CLC chloride channels in the kidney. Am J Physiol Renal Physiol 279:F802-808, 2000
4. ESTEVEZ R, BOETTGER T, STEIN V, et al: Barttin is a Cl-channel beta-subunit crucial for renal Cl-reabsorption and inner ear K+ secretion. Nature 414:558-561, 2001
5. WALDEGGER S, JECK N, BARTH P, et al: Barttin increases surface expression and changes current properties of ClC-K channels. Pflügers Arch 444:411-418, 2002
6. MATSUMURA Y, UCHIDA S, KONDO Y, et al: Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel. Nat Genet 21:95-98, 1999
7. AKIZUKI N, UCHIDA S, SASAKI S, MARUMO F: Impaired solute accumulation in inner medulla of Clcnk1-/-mice kidney. Am J Physiol Renal Physiol 280:F79-87, 2001
8. SIMON DB, BINDRA RS, MANSFIELD TA, et al: Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17:171-178, 1997
9. BIRKENHAGER R, OTTO E, SCHURMANN MJ, et al: Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310-314, 2001
10. KONRAD M, VOLLMER M, LEMMINK HH, et al: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 11:1449-1459, 2000
11. 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 415:287-294, 2002
12. ZERANGUE N, SCHWAPPACH B, JAN YN, JAN LY: A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels. Neuron 22:537-548, 1999
13. WALDEGGER S, JENTSCH TJ: Functional and structural analysis of ClC-K chloride channels involved in renal disease. J Biol Chem 275:24527-24533, 2000
14. ZIMNIAK L, WINTERS CJ, REEVES WB, ANDREOLI TE: Cl-channels in basolateral renal medullary vesicles. X. Cloning of a Cl-channel from rabbit outer medulla. Kidney Int 48:1828-1836, 1995
15. MAULET Y, LAMBERT RC, MYKITA S, et al: Expression and targeting to the plasma membrane of xClC-K, a chloride channel specifically expressed in distinct tubule segments of Xenopus laevis kidney. Biochem J 340 (Pt 3):737-743, 1999
16. UCHIDA S, SASAKI S, FURUKAWA T, et al: Molecular cloning of a chloride channel that is regulated by dehydration and expressed predominantly in kidney medulla. J Biol Chem 268:3821-3824, 1993
17. ESTEVEZ R, JENTSCH TJ: CLC chloride channels: correlating structure with function. Curr Opin Struct Biol 12:531-539, 2002
18. DUFFIELD M, RYCHKOV G, BRETAG A, ROBERTS M: Involvement of helices at the dimer interface in ClC-1 common gating. J Gen Physiol 121:149-161, 2003
19. HAUG K, WARNSTEDT M, ALEKOVAK, et al: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 33:527-532, 2003
20. CASTROP H, KRAMER BK, RIEGGER GA, et al: Overexpression of chloride channel CLC-K2 mRNA in the renal medulla of Dahl salt-sensitive rats. J Hypertens 18:1289-1295, 2000