Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome

Proceedings of the National Academy of Sciences of the United States of America

Volumn 108, Issue 25, 2011, Pages 10361-10366

  Paulais, Marc ^a,b   Bloch Faure, May ^a,b   Picard, Nicolas ^a,b   Jacques, Thibaut ^b,c   Ramakrishnan, Suresh Krishna ^a,b   Keck, Mathilde ^a,b   Sohet, Fabien ^a,b   Eladari, Dominique ^a,b,c,d   Houillier, Pascal ^a,b,c,d   Lourdel, Stéphane ^a,b   Teulon, Jacques ^a,b   Tucker, Stephen J ^e  

^a SORBONNE UNIVERSITÉ   (France)

^b CNRS   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Acid base balance; Homeostasis; Kidney

Indexed keywords

AMILORIDE; CALCIUM; FUROSEMIDE; HYDROCHLOROTHIAZIDE; POTASSIUM CHANNEL; POTASSIUM CHANNEL KIR5.1; SODIUM; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BASOLATERAL MEMBRANE; CHANNELOPATHY; EAST SYNDROME; ELECTROPHYSIOLOGY; GENE DELETION; GENE DISRUPTION; GENE FUNCTION; HYPERCALCIURIA; HYPERCHLOREMIC ACIDOSIS; HYPOKALEMIA; ION TRANSPORT; KIDNEY; KIDNEY DISTAL TUBULE; MOUSE; NONHUMAN; PH; PHENOTYPE; POTASSIUM CONDUCTANCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SESAME SYNDROME; SODIUM ABSORPTION; URINARY EXCRETION;

ACIDOSIS; AMILORIDE; ANIMALS; DIURETICS; FUROSEMIDE; HUMANS; HYDROCHLOROTHIAZIDE; HYPOKALEMIA; KIDNEY TUBULES; MICE; MICE, KNOCKOUT; PATCH-CLAMP TECHNIQUES; PHENOTYPE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; SODIUM CHANNEL BLOCKERS; SODIUM POTASSIUM CHLORIDE SYMPORTER INHIBITORS; SYNDROME;

MUS; SESAMUM INDICUM;

EID: 79960003832     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1101400108     Document Type: Article

References (40)

1. + channels: Structure and function. Annu Rev Physiol 59:413-436.
2. Lorenz JN, et al. (2002) Impaired renal NaCl absorption in mice lacking the ROMK potassium channel, a model for type II Bartter's syndrome. J Biol Chem 277:37871-37880.
3. + channel-deficient mice reveals a mechanism for stabilizing bicarbonate transport. Proc Natl Acad Sci USA 101:8215-8220.
4. Hurst AM, Duplain M, Lapointe JY (1992) Basolateral membrane potassium channels in rabbit cortical thick ascending limb. Am J Physiol 263:F262-F267.
5. +) channel in the basolateral membrane of mouse TAL. Am J Physiol Renal Physiol 282:F866-F876.
6. +) channel at the basolateral membrane of the mouse distal convoluted tubule: Similarities with Kir4-Kir5.1 heteromeric channels. J Physiol 538:391-404.
7. + channel currents in basolateral membrane of distal convoluted tubule of rabbit kidney. Am J Physiol 256:F246-F254.
8. + conductance in principal cells of rat CCD. Am J Physiol Renal Physiol 288:F493-F504.
9. + channel in the basolateral membrane of mouse renal collecting duct principal cells. Am J Physiol Renal Physiol 294:F1398-F1407.
10. + channels. EMBO J 15:2980-2987.
11. Bockenhauer D, et al. (2009) Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 360:1960-1970.
12. Scholl UI, et al. (2009) Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci USA 106:5842-5847.
13. Sala-Rabanal M, Kucheryavykh LY, Skatchkov SN, Eaton MJ, Nichols CG (2010) Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). J Biol Chem 285:36040-36048.
14. Williams DM, et al. (2010) Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome. J Am Soc Nephrol 21:2117-2129.
15. + channel. Pflugers Arch Eur J Physiol 461:423-435.
16. Bond CT, et al. (1994) Cloning and expression of a family of inward rectifier potassium channels. Receptors Channels 2:183-191. (Pubitemid 24325439)
17. Pessia M, Imbrici P, D'Adamo MC, Salvatore L, Tucker SJ (2001) Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1. J Physiol 532:359-367.
18. + channel by heteromeric subunit assembly of Kir5.1 with Kir4.1. J Physiol 525:587-592.
19. Xu H, Cui N, Yang Z, Qu Z, Jiang C (2000) Modulation of kir4.1 and kir5.1 by hypercapnia and intracellular acidosis. J Physiol 524:725-735. (Pubitemid 30303621)
20. Tucker SJ, Imbrici P, Salvatore L, D'Adamo MC, Pessia M (2000) pH dependence of the inwardly rectifying potassium channel, Kir5.1, and localization in renal tubular epithelia. J Biol Chem 275:16404-16407. (Pubitemid 30398858)
21. Yang Z, et al. (2000) Biophysical and molecular mechanisms underlying the modulation of heteromeric Kir4.1-Kir5.1 channels by CO2 and pH. J Gen Physiol 116:33-45. (Pubitemid 30456941)
22. 2 chemoreceptor. J Biol Chem 296:192-198.
23. Lalioti MD, et al. (2006) Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nat Genet 38:1124-1132. (Pubitemid 44470357)
24. Yang SS, et al. (2007) Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. Cell Metab 5:331-344.
25. Furgeson SB, Linas S (2010) Mechanisms of type I and type II pseudohypoaldosteronism. J Am Soc Nephrol 21:1842-1845.
26. Mayan H, et al. (2002) Pseudohypoaldosteronism type II: Marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J Clin Endocrinol Metab 87:3248-3254. (Pubitemid 34816373)
27. Reichold M, et al. (2010) KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proc Natl Acad Sci USA 107:14490-14495.
28. Takumi T, et al. (1995) A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells. J Biol Chem 270:16339-16346.
29. Yang Z, Jiang C (1999) Opposite effects of pH on open-state probability and single channel conductance of kir4.1 channels. J Physiol 520:921-927. (Pubitemid 29533046)
30. + channel, Kir4.1, in rat retinal pigment epithelium. J Physiol 520:373-381.
31. + channel in retinal Müller cells: comparison with the KAB-2/Kir4.1 channel expressed in HEK293T cells. Jpn J Physiol 48:71-80.
32. Simon DB, et al. (1996) Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12:24-30. (Pubitemid 26011315)
33. 2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia. J Clin Invest 115:1651-1658.
34. Nahum H, et al. (1986) Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. Am J Nephrol 6:253-262. (Pubitemid 17172290)
35. Ishii M, et al. (1997) Expression and clustered distribution of an inwardly rectifying potassium channel, KAB-2/Kir4.1, on mammalian retinal Müller cell membrane: their regulation by insulin and laminin signals. J Neurosci 17:7725-7735. (Pubitemid 27426211)
36. Dawson DC, Richards NW (1990) Basolateral K conductance: Role in regulation of NaCl absorption and secretion. Am J Physiol 259:C181-C195. (Pubitemid 20254461)
37. + channel in the basolateral membrane of renal proximal tubule. J Gen Physiol 111:161-180.
38. Tsuchiya K, Wang W, Giebisch G, Welling PA (1992) ATP is a coupling modulator of parallel Na,K-ATPase-K-channel activity in the renal proximal tubule. Proc Natl Acad Sci USA 89:6418-6422.
39. + channel in the thick ascending limb of mouse kidney. J Gen Physiol 127:205-215.
40. Vallet M, et al. (2006) Pendrin regulation in mouse kidney primarily is chloride-dependent. J Am Soc Nephrol 17:2153-2163. (Pubitemid 44141905)