Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its α subunit

Journal of Clinical Investigation

Volumn 104, Issue 7, 1999, Pages 967-974

  Bonny, Olivier ^a   Chraibi, Ahmed ^a   Loffing, Jan ^b   Jaeger, Nicole Fowler ^a   Gründer, Stefan ^c   Horisberger, Jean Daniel ^a   Rossier, Bernard C ^a,d  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d University of Lausanne Departement de Pharmacologie et de Toxicologie   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; PROTEIN SUBUNIT; SODIUM CHANNEL;

ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHANNEL GATING; CONTROLLED STUDY; HUMAN; NONHUMAN; NONSENSE MUTATION; OOCYTE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PSEUDOHYPOALDOSTERONISM; RAT; SODIUM CURRENT; SPECIES DIFFERENCE; XENOPUS LAEVIS;

EID: 0032718691     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI6821     Document Type: Article

References (28)

1. Hanukoglu, A. 1991. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J. Clin. Endocrinol. Metab. 73:936-944.
2. Geller, D.S., et al. 1998. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat. Genet. 19:279-281.
3. Rossier, B.C. 1997. 1996 Homer Smith Award Lecture. Cum grano salis: the epithelial sodium channel and the control of blood pressure. J. Am. Soc. Nephrol. 8:980-992.
4. + channel is made of three homologous subunits. Nature. 367:463-467.
5. Firsov, D., Gautschi, I., Merillat, A.M., Rossier, B.C., and Schild, L. 1998. The heterotetrameric architecture of the epithelial sodium channel. EMBO J. 17:344-352.
6. Kosari, F., et al. 1998. Subunit stoichiometry of the epithelial sodium channel. J. Biol. Chem. 273:13469-13474.
7. Snyder, P.M., Cheng, C., Prince, L.S., Rogers, J.C., and Welsh, M.J. 1998. Electrophysiological and biochemical evidence that DEG/ENaC cation channels are composed of nine subunits. J. Biol. Chem. 273:681-684.
8. Schild, L., Schneeberger, E., Gautschi, I., and Firsov, D. 1997. Identification of amino acid residues in the alpha, beta, and gamma subunits of the epithelial sodium channel involved in amiloride block and ion permeation. J. Gen. Physiol. 109:15-26.
9. Hummler, E., et al. 1996. Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Nat. Genet. 12:325-328.
10. Pradervand, S., et al. 1999. Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. Proc. Natl. Acad. Sci. USA. 96:1732-1737.
11. Barker, P.M., et al. 1998. Role of gamma ENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaptation and pseudohypoaldosteronism. J. Clin. Invest. 102:1634-1640.
12. Firsov, D., et al. 1996. Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. Proc. Natl. Acad. Sci. USA. 93:15370-15375.
13. +-ATPase in Xenopus oocytes. Am. J. Physiol. 257:C851-C858.
14. Firsov, D., Robert-Nicoud, M., Gruender, S., Schild, L., and Rossier, B.C. 1999. Mutational analysis of cysteine-rich domains of the epithelium sodium channel. Identification of cysteines essential for channel expression at the cell surface. J. Biol. Chem. 274:2743-2749.
15. McNicholas, C.M., and Canessa, C.M. 1997. Diversity of channels generated by different combinations of epithelial sodium channel subunits. J. Gen. Physiol. 109:681-692.
16. Hille, B. 1992. Ionic channels of excitable membranes. Sinauer Associates Inc. Sunderland, MA. 1-20.
17. Palmer, L.G., and Frindt, G. 1988. Conductance and gating of epithelial Na channels from rat cortical collecting tubule. Effects of luminal Na and Li. J. Gen. Physiol. 92:121-138.
18. Adams, C.M., Snyder, P.M., and Welsh, M.J. 1997. Interactions between subunits of the human epithelial sodium channel. J. Biol. Chem. 272:27295-27300.
19. + conductance in native Xenopus oocytes. Biochim. Biophys. Acta. 1239:201-206.
20. + channel (alpha rENaC) mediates its localization at the apical membrane. EMBO J. 13:4440-4450.
21. + channel function. J. Biol. Chem. 270:11735-11737.
22. Hummler, E., et al. 1997. A mouse model for the renal salt-wasting syndrome pseudohypoaldosteronism. Proc. Natl. Acad. Sci. USA. 94:11710-11715.
23. Kerem, E., et al. 1997. Respiratory disease in patients with the systemic form of pseudohypoaldosteronism type I. Pediatr. Pulmonol. Suppl. 14:78-79. (Abstr.)
24. Hogg, R.J., Marks, J.F., Marver, D., and Frolich, J.C. 1991. Long term observations in a patient with pseudohypoaldosteronism. Pediatr. Nephrol. 5:205-210.
25. Hanukoglu, A., Bistritzer, T., Rakover, Y., and Mandelberg, A. 1994. Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis. J. Pediatr. 125:752-755.
26. Marthinsen, L., et al. 1998. Recurrent Pseudomonas bronchopneumonia and other symptoms as in cystic fibrosis in a child with type I pseudohypoaldosteronism. Acta Paediatr. 87:472-474.
27. Bonny, O., Rossier, B.C., and Hummler, E. 1997. Functional analysis of human alpha ENaC mutation (I68fr) causing PHA-1. J. Am. Soc. Nephrol. 8:M572. (Abstr.).
28. Bens, M., et al. 1999. Corticosteroid-dependent sodium transport in a novel immortalized mouse collecting duct principal cell line. J. Am. Soc. Nephrol. 10:923-934.