Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism

Molecular and Cellular Endocrinology

Volumn 217, Issue 1-2, 2004, Pages 119-125

  Sartorato, P ^a,d   Khaldi, Y ^a   Lapeyraque, A L ^b   Armanini, D ^d   Kuhnle, U ^e   Salomon, R ^c   Caprio, M ^a   Viengchareun, S ^a   Lombes M ^a   Zennaro, M C ^a  

^a INSERM   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY OF MUNICH   (Germany)

Author keywords

Aldosterone; Hormone resistance; Nuclear receptors; Salt loss; Steroids

Indexed keywords

MINERALOCORTICOID RECEPTOR;

ALDOSTERONE BLOOD LEVEL; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; CONFERENCE PAPER; EXON; FAILURE TO THRIVE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE INACTIVATION; GENE LOCATION; HORMONE RESISTANCE; HUMAN; HYPERKALEMIA; HYPONATREMIA; MISSENSE MUTATION; MUTATOR GENE; NONHUMAN; PHENOTYPIC VARIATION; PLASMA RENIN ACTIVITY; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; SALT LOSING NEPHRITIS;

EID: 2342488106     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mce.2003.10.017     Document Type: Conference Paper

References (29)

1. Arai K., Tsigos C., Suzuki Y., Listwak S., Zachman K., Zangeneh F., Rapaport R., Chanoine J.-P., Chrousos G.P. No apparent mineralocorticoid receptor defect in a series of sporadic cases of pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 80:1995;814-817
2. Arai K., Nakagomi Y., Iketani M., Shimura Y., Amemiya S., Ohyama K., Shibasaki T. Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum. Genet. 112:2003;91-97
3. Aranda A., Pascual A. Nuclear hormone receptors and gene expression. Physiol. Rev. 81:2001;1269-1304
4. Arriza J.L., Weinberger C., Cerelli G., Glaser T.M., Handelin B.L., Housman D.E., Evans R.M. Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science. 237:1987;268-275
5. Attali B., Latter H., Rachamim N., Garty H. A corticosteroid-induced gene expressing an "IsK-like" k+ channel activity in xenopus oocytes. Proc. Natl. Acad. Sci. U.S.A. 92:1995;6092-6096
6. Bloem L.J., Guo C., Pratt J.H. Identification of a splice variant of the rat and human mineralocorticoid receptor genes. J. Steroid Biochem. Mol. Biol. 55:1995;159-162
7. Boulkroun S., Fay M., Zennaro M.C., Escoubet B., Jaisser F., Blot-Chabaud M., Farman N., Courtois-Coutry N. Characterization of rat NDRG2 (N-Myc downstream regulated gene 2): a novel early mineralocorticoid-specific induced gene. J. Biol. Chem. 277:2002;31506-31515
8. Chen S.Y., Bhargava A., Mastroberardino L., Meijer O.C., Wang J., Buse P., Firestone G.L., Verrey F., Pearce D. Epithelial sodium channel regulated by aldosterone-induced protein sgk. Proc. Natl. Acad. Sci. U.S.A. 96:1999;2514-2519
9. Fagart J., Wurtz J.M., Souque A., Hellal-Levy C., Moras D., Rafestin-Oblin M.E. Antagonism in the human mineralocorticoid receptor. EMBO J. 17:1998;3317-3325
10. Geller D.S., Rodriguez-Soriano J., Vallo Boado A., Schifter S., Bayer M., Chang S.S., Lifton R.P. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat. Genet. 19:1998;279-281
11. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J. Clin. Endocrinol. Metab. 73:1991;936-944
12. Kuhnle, U., Nielsen, M.D., Tietze, H.U., Schroeter, C.H., Schlamp, D., Bosson, D., Knorr, D., Armanini, D., 1990. Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects. J. Clin. Endocrinol. Metab., 638-641.
13. Le Menuet D., Viengchareun S., Penfornis P., Walker F., Zennaro M.C., Lombes M. Targeted oncogenesis reveals a distinct tissue-specific utilization of alternative promoters of the human mineralocorticoid receptor gene in transgenic mice. J. Biol. Chem. 275:2000;7878-7886
14. Naray-Fejes-Toth A., Canessa C., Cleaveland E.S., Aldrich G., Fejes-Toth G. sgk is an aldosterone-induced kinase in the renal collecting duct: effects on epithelial Na+ channels. J. Biol. Chem. 274:1999;16973-16978
15. Penfornis, P., Viengchareun, S., Le Menuet, D., Cluzeaud, F., Zennaro, M.-C., Lombes, M., 2000. The mineralocorticoid receptor mediates aldosterone-induced differentiation of T37i cells into brown adipocytes. Am. J. Physiol. Endocrinol. Metab. 279, E386-E394.
16. Riepe F.G., Krone N., Morlot M., Ludwig M., Sippell W.G., Partsch C.J. Identification of a novel mutation in the human mineralocorticoid receptor gene in a German family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J. Clin. Endocrinol. Metab. 88:2003;1683-1686
17. Robert-Nicoud M., Flahaut M., Elalouf J.M., Nicod M., Salinas M., Bens M., Doucet A., Wincker P., Artiguenave F., Horisberger J.D., Vandewalle A., Rossier B.C., Firsov D. Transcriptome of a mouse kidney cortical collecting duct cell line: effects of aldosterone and vasopressin. Proc. Natl. Acad. Sci. U.S.A. 98:2001;2712-2716
18. Sartorato P., Lapeyraque A.-L., Armanini D., Kuhnle U., Khaldi Y., Salomon R., Abadie V., Di Battista E., Naselli A., Racine A., Bosio M., Caprio M., Poulet-Young V., Chabrolle J.-P., Niaudet P., De Gennes C., Lecornec M.-H., Poisson E., Fusco A.-M., Loli P., Lombes M., Zennaro M.-C. Different inactivating mutations of the mineralocorticoid receptor in 14 families affected by type I pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 88:2003;2508-2517
19. Tajima T., Kitagawa H., Yokoya S., Tachibana K., Adachi M., Nakae J., Suwa S., Katoh S., Fujieda K. A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J. Clin. Endocrinol. Metab. 85:2000;4690-4694
20. Verrey F., Pearce D., Pfeiffer R., Spindler B., Mastroberardino L., Summa V., Zecevic M. Pleiotropic action of aldosterone in epithelia mediated by transcription and post-transcription mechanisms. Kidney Int. 57:2000;1277-1282
21. Viemann M., Peter M., Lopez-Siguero J.P., Simic-Schleicher G., Sippell W.G. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J. Clin. Endocrinol. Metab. 86:2001;2056-2059
22. Viengchareun S., Penfornis P., Zennaro M.C., Lombes M. Mineralocorticoid and glucocorticoid receptors inhibit UCP expression and function in brown adipocytes. Am. J. Physiol. Endocrinol. Metab. 280:2001;640-649
23. Zennaro M.C., Borensztein P., Jeunemaitre X., Armanini D., Soubrier F. No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 79:1994;32-38
24. Zennaro M.-C., Keightley M.C., Kotelevtsev Y., Conway G., Soubrier F., Fuller P.J. Human mineralocorticoid receptor genomic structure and identification of expressed isoforms. J. Biol. Chem. 270:1995;21016-21020
25. Zennaro M.-C., Le Menuet D., Lombès M. Characterization of the human mineralocorticoid receptor gene 5′-regulatory region: evidence for differential hormonal regulation of two alternative promoters via non-classical mechanisms. Mol. Endocrinol. 10:1996;1549-1560
26. Zennaro M.-C., Farman N., Bonvalet J.-P., Lombes M. Tissue-specific expression of α and β messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states. J. Clin. Endocrinol. Metab. 82:1997;1345-1352
27. Zennaro M.-C., Armanini D., Mantero F. Mineralocorticoid resistance. Top. Endocrinol. 12:1999;2-6
28. Zennaro M.C., Souque A., Viengchareun S., Poisson E., Lombes M. A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action. Mol. Endocrinol. 15:2001;1586-1598
29. Zhou M.Y., Gomez-Sanchez C.E., Gomez-Sanchez E.P. An alternatively spliced rat mineralocorticoid receptor mRNA causing truncation of the steroid binding domain. Mol. Cell. Endocrinol. 159:2000;125-131