메뉴 건너뛰기




Volumn 18, Issue 9, 2004, Pages 2151-2165

New naturally occurring missense mutations of the human mineralocorticoid receptor disclose important residues involved in dynamic interactions with deoxyribonucleic acid, intracellular trafficking, and ligand binding

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MINERALOCORTICOID RECEPTOR;

EID: 4544376911     PISSN: 08888809     EISSN: None     Source Type: Journal    
DOI: 10.1210/me.2003-0408     Document Type: Article
Times cited : (34)

References (56)
  • 1
    • 0034079734 scopus 로고    scopus 로고
    • Pleiotropic action of aldosterone in epithelia mediated by transcription and post-transcription mechanisms
    • Verrey F, Pearce D, Pfeiffer R, Spindler B, Mastroberardino L, Summa V, Zecevic M 2000 Pleiotropic action of aldosterone in epithelia mediated by transcription and post-transcription mechanisms. Kidney Int 57:1277-1282
    • (2000) Kidney Int , vol.57 , pp. 1277-1282
    • Verrey, F.1    Pearce, D.2    Pfeiffer, R.3    Spindler, B.4    Mastroberardino, L.5    Summa, V.6    Zecevic, M.7
  • 2
    • 0035936780 scopus 로고    scopus 로고
    • Molecular mechanisms of human hypertension
    • Lifton RP, Gharavi AG, Geller DS 2001 Molecular mechanisms of human hypertension. Cell 104:545-556
    • (2001) Cell , vol.104 , pp. 545-556
    • Lifton, R.P.1    Gharavi, A.G.2    Geller, D.S.3
  • 5
    • 0034489575 scopus 로고    scopus 로고
    • A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1
    • Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K 2000 A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab 85:4690-4694
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 4690-4694
    • Tajima, T.1    Kitagawa, H.2    Yokoya, S.3    Tachibana, K.4    Adachi, M.5    Nakae, J.6    Suwa, S.7    Katoh, S.8    Fujieda, K.9
  • 6
    • 0035012297 scopus 로고    scopus 로고
    • 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
    • Viemann M, Peter M, Lopez-Siguero JP, Simic-Schleicher G, Sippell WG 2001 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 86:2056-2059
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2056-2059
    • Viemann, M.1    Peter, M.2    Lopez-Siguero, J.P.3    Simic-Schleicher, G.4    Sippell, W.G.5
  • 9
    • 0037683732 scopus 로고    scopus 로고
    • 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
    • Riepe FG, Krone N, Morlot M, Ludwig M, Sippell WG, Partsch CJ 2003 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 88:1683-1686
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 1683-1686
    • Riepe, F.G.1    Krone, N.2    Morlot, M.3    Ludwig, M.4    Sippell, W.G.5    Partsch, C.J.6
  • 10
    • 0033574663 scopus 로고    scopus 로고
    • A unified nomenclature system for the nuclear receptor superfamily
    • Nuclear Receptor Committee 1999 A unified nomenclature system for the nuclear receptor superfamily. Cell 97:161-163
    • (1999) Cell , vol.97 , pp. 161-163
  • 11
    • 0030982641 scopus 로고    scopus 로고
    • The role of the hsp90-based chaperone system in signal transduction by nuclear receptors and receptors signaling via MAP kinase
    • Pratt WB 1997 The role of the hsp90-based chaperone system in signal transduction by nuclear receptors and receptors signaling via MAP kinase. Annu Rev Pharmacol Toxicol 37:297-326
    • (1997) Annu Rev Pharmacol Toxicol , vol.37 , pp. 297-326
    • Pratt, W.B.1
  • 14
    • 0348110369 scopus 로고    scopus 로고
    • Protein inhibitor of activated signal transducer and activator of transcription 1 interacts with the N-terminal domain of mineralocorticoid receptor and represses its transcriptional activity: Implication of small ubiquitin-related modifier 1 modification
    • Tallec LP, Kirsh O, Lecomte MC, Viengchareun S, Zennaro MC, Dejean A, Lombes M 2003 Protein inhibitor of activated signal transducer and activator of transcription 1 interacts with the N-terminal domain of mineralocorticoid receptor and represses its transcriptional activity: implication of small ubiquitin-related modifier 1 modification. Mol Endocrinol 17:2529-2542
    • (2003) Mol Endocrinol , vol.17 , pp. 2529-2542
    • Tallec, L.P.1    Kirsh, O.2    Lecomte, M.C.3    Viengchareun, S.4    Zennaro, M.C.5    Dejean, A.6    Lombes, M.7
  • 15
    • 0037469632 scopus 로고    scopus 로고
    • Interdomain interactions in the mineralocorticoid receptor
    • Rogerson FM, Fuller PJ 2003 Interdomain interactions in the mineralocorticoid receptor. Mol Cell Endocrinol 200:45-55
    • (2003) Mol Cell Endocrinol , vol.200 , pp. 45-55
    • Rogerson, F.M.1    Fuller, P.J.2
  • 16
    • 0023221667 scopus 로고
    • Cloning of human mineralocorticoid receptor complementary DNA: Structural and functional kinship with the glucocorticoid receptor
    • Arriza JL, Weinberger C, Cerelli G, Glaser TM, Handelin BL, Housman DE, Evans RM 1987 Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science 237:268-275
    • (1987) Science , vol.237 , pp. 268-275
    • Arriza, J.L.1    Weinberger, C.2    Cerelli, G.3    Glaser, T.M.4    Handelin, B.L.5    Housman, D.E.6    Evans, R.M.7
  • 17
    • 0032575057 scopus 로고    scopus 로고
    • Atomic structure of progesterone complexed with its receptor
    • Williams SP, Sigler PB 1998 Atomic structure of progesterone complexed with its receptor. Nature 393:392-396
    • (1998) Nature , vol.393 , pp. 392-396
    • Williams, S.P.1    Sigler, P.B.2
  • 23
    • 0033798154 scopus 로고    scopus 로고
    • A single amino acid mutation of ala-773 in the mineralocorticoid receptor confers agonist properties to 11β-substituted spirolactones
    • Auzou G, Fagart J, Souque A, Hellal-Levy C, Wurtz JM, Moras D, Rafestin-Oblin ME 2000 A single amino acid mutation of ala-773 in the mineralocorticoid receptor confers agonist properties to 11β-substituted spirolactones. Mol Pharmacol 58:684-691
    • (2000) Mol Pharmacol , vol.58 , pp. 684-691
    • Auzou, G.1    Fagart, J.2    Souque, A.3    Hellal-Levy, C.4    Wurtz, J.M.5    Moras, D.6    Rafestin-Oblin, M.E.7
  • 26
    • 0030918425 scopus 로고    scopus 로고
    • Tissue-specific expression of α and β messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states
    • Zennaro MC, Farman N, Bonvalet J-P, Lombes M 1997 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 82:1345-1352
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 1345-1352
    • Zennaro, M.C.1    Farman, N.2    Bonvalet, J.-P.3    Lombes, M.4
  • 27
    • 0029908791 scopus 로고    scopus 로고
    • Characterization of the human mineralocorticoid receptor gene 5′-regulatory region: Evidence for differential hormonal regulation of two alternative promoters via non-classical mechanisms
    • Zennaro MC, Le Menuet D, Lombès M 1996 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 10:1549-1560
    • (1996) Mol Endocrinol , vol.10 , pp. 1549-1560
    • Zennaro, M.C.1    Le Menuet, D.2    Lombès, M.3
  • 28
    • 0034677746 scopus 로고    scopus 로고
    • Targeted oncogenesis reveals a distinct tissue-specific utilization of alternative promoters of the human mineralocorticoid receptor gene in transgenic mice
    • Le Menuet D, Viengchareun S, Penfornis P, Walker F, Zennaro MC, Lombes M 2000 Targeted oncogenesis reveals a distinct tissue-specific utilization of alternative promoters of the human mineralocorticoid receptor gene in transgenic mice. J Biol Chem 275:7878-7886
    • (2000) J Biol Chem , vol.275 , pp. 7878-7886
    • Le Menuet, D.1    Viengchareun, S.2    Penfornis, P.3    Walker, F.4    Zennaro, M.C.5    Lombes, M.6
  • 29
    • 0028865710 scopus 로고
    • Identification of a splice variant of the rat and human mineralocorticoid receptor genes
    • Bloem LJ, Quo C, Pratt JH 1995 Identification of a splice variant of the rat and human mineralocorticoid receptor genes. J Steroid Biochem Mol Biol 55:159-162
    • (1995) J Steroid Biochem Mol Biol , vol.55 , pp. 159-162
    • Bloem, L.J.1    Quo, C.2    Pratt, J.H.3
  • 30
    • 0033959044 scopus 로고    scopus 로고
    • An alternatively spliced rat mineralocorticoid receptor mRNA causing truncation of the steroid binding domain
    • Zhou MY, Gomez-Sanchez CE, Gomez-Sanchez EP 2000 An alternatively spliced rat mineralocorticoid receptor mRNA causing truncation of the steroid binding domain. Mol Cell Endocrinol 159:125-131
    • (2000) Mol Cell Endocrinol , vol.159 , pp. 125-131
    • Zhou, M.Y.1    Gomez-Sanchez, C.E.2    Gomez-Sanchez, E.P.3
  • 31
    • 0034824358 scopus 로고    scopus 로고
    • A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action
    • Zennaro MC, Souque A, Viengchareun S, Poisson E, Lombes M 2001 A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action. Mol Endocrinol 15:1586-1598
    • (2001) Mol Endocrinol , vol.15 , pp. 1586-1598
    • Zennaro, M.C.1    Souque, A.2    Viengchareun, S.3    Poisson, E.4    Lombes, M.5
  • 32
    • 0028026643 scopus 로고
    • The mineralocorticoid receptor discriminates aldosterone from glucocorticoids independently of the 11 β-hydroxysteroid dehydrogenase
    • Lombes M, Kenouch S, Souque A, Farman N, Rafestin-Oblin M-E 1994 The mineralocorticoid receptor discriminates aldosterone from glucocorticoids independently of the 11 β-hydroxysteroid dehydrogenase. Endocrinology 135:834-840
    • (1994) Endocrinology , vol.135 , pp. 834-840
    • Lombes, M.1    Kenouch, S.2    Souque, A.3    Farman, N.4    Rafestin-Oblin, M.-E.5
  • 33
    • 0025790171 scopus 로고
    • In vivo foot-printing of rat TAT gene: Dynamic interplay between the glucocorticoid receptor and a liver-specific factor
    • Rigaud G, Roux J, Pictet R, Grange T 1991 In vivo foot-printing of rat TAT gene: dynamic interplay between the glucocorticoid receptor and a liver-specific factor. Cell 67:977-986
    • (1991) Cell , vol.67 , pp. 977-986
    • Rigaud, G.1    Roux, J.2    Pictet, R.3    Grange, T.4
  • 34
    • 0343415609 scopus 로고    scopus 로고
    • The glucocorticoid receptor: Rapid exchange with regulatory sites in living cells
    • McNally JG, Muller WG, Walker D, Wolford R, Hager GL 2000 The glucocorticoid receptor: rapid exchange with regulatory sites in living cells. Science 287:1262-1265
    • (2000) Science , vol.287 , pp. 1262-1265
    • McNally, J.G.1    Muller, W.G.2    Walker, D.3    Wolford, R.4    Hager, G.L.5
  • 36
    • 0034463085 scopus 로고    scopus 로고
    • Crucial role of the H11-H12 loop in stabilizing the active conformation of the human mineralocorticoid receptor
    • Hellal-Levy C, Fagart J, Souque A, Wurtz JM, Moras D, Rafestin-Oblin ME 2000 Crucial role of the H11-H12 loop in stabilizing the active conformation of the human mineralocorticoid receptor. Mol Endocrinol 14:1210-1221
    • (2000) Mol Endocrinol , vol.14 , pp. 1210-1221
    • Hellal-Levy, C.1    Fagart, J.2    Souque, A.3    Wurtz, J.M.4    Moras, D.5    Rafestin-Oblin, M.E.6
  • 37
    • 0036230742 scopus 로고    scopus 로고
    • Cyclosporine a and FK506 inhibit transcriptional activity of the human mineralocorticoid receptor: A cell-based model to investigate partial aldosterone resistance in kidney transplantation
    • Deppe CE, Heering PJ, Viengchareun S, Grabensee B, Farman N, Lombes M 2002 Cyclosporine a and FK506 inhibit transcriptional activity of the human mineralocorticoid receptor: a cell-based model to investigate partial aldosterone resistance in kidney transplantation. Endocrinology 143:1932-1941
    • (2002) Endocrinology , vol.143 , pp. 1932-1941
    • Deppe, C.E.1    Heering, P.J.2    Viengchareun, S.3    Grabensee, B.4    Farman, N.5    Lombes, M.6
  • 38
    • 0032539721 scopus 로고    scopus 로고
    • Subcellular localization of mineralocorticoid receptors in living cells: Effects of receptor agonists and antagonists
    • Fejes-Toth G, Pearce D, Naray-Fejes-Toth A 1998 Subcellular localization of mineralocorticoid receptors in living cells: effects of receptor agonists and antagonists. Proc Natl Acad Sci USA 95:2973-2978
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 2973-2978
    • Fejes-Toth, G.1    Pearce, D.2    Naray-Fejes-Toth, A.3
  • 40
    • 1942502820 scopus 로고    scopus 로고
    • Rapid periodic binding and displacement of the glucocorticoid receptor during chromatin remodeling
    • Nagaich AK, Walker DA, Wolford R, Hager GL 2004 Rapid periodic binding and displacement of the glucocorticoid receptor during chromatin remodeling. Mol Cell 14:163-174
    • (2004) Mol Cell , vol.14 , pp. 163-174
    • Nagaich, A.K.1    Walker, D.A.2    Wolford, R.3    Hager, G.L.4
  • 41
    • 0033637703 scopus 로고    scopus 로고
    • Cofactor dynamics and sufficiency in estrogen receptor-regulated transcription
    • Shang Y, Hu X, DiRenzo J, Lazar MA, Brown M 2000 Cofactor dynamics and sufficiency in estrogen receptor-regulated transcription. Cell 103:843-852
    • (2000) Cell , vol.103 , pp. 843-852
    • Shang, Y.1    Hu, X.2    DiRenzo, J.3    Lazar, M.A.4    Brown, M.5
  • 43
    • 85047684372 scopus 로고    scopus 로고
    • Navigating steroid hormone receptors through the nuclear compartment
    • DeFranco DB 2002 Navigating steroid hormone receptors through the nuclear compartment. Mol Endocrinol 16:1449-1455
    • (2002) Mol Endocrinol , vol.16 , pp. 1449-1455
    • DeFranco, D.B.1
  • 44
    • 0037059802 scopus 로고    scopus 로고
    • Determinants of subnuclear organization of mineralocorticoid receptor characterized through analysis of wild type and mutant receptors
    • Pearce D, Naray-Fejes-Toth A, Fejes-Toth G 2002 Determinants of subnuclear organization of mineralocorticoid receptor characterized through analysis of wild type and mutant receptors. J Biol Chem 277:1451-1456
    • (2002) J Biol Chem , vol.277 , pp. 1451-1456
    • Pearce, D.1    Naray-Fejes-Toth, A.2    Fejes-Toth, G.3
  • 45
    • 0034331073 scopus 로고    scopus 로고
    • Finding nuclear localization signals
    • Cokol M, Nair R, Rost B 2000 Finding nuclear localization signals. EMBO Rep 1:411-415
    • (2000) EMBO Rep , vol.1 , pp. 411-415
    • Cokol, M.1    Nair, R.2    Rost, B.3
  • 47
    • 0033555947 scopus 로고    scopus 로고
    • Nucleocytoplasmic trafficking of steroid-free glucocorticoid receptor
    • Hache RJ, Tse R, Reich T, Savory JG, Lefebvre YA 1999 Nucleocytoplasmic trafficking of steroid-free glucocorticoid receptor. J Biol Chem 274:1432-1439
    • (1999) J Biol Chem , vol.274 , pp. 1432-1439
    • Hache, R.J.1    Tse, R.2    Reich, T.3    Savory, J.G.4    Lefebvre, Y.A.5
  • 48
    • 0031725138 scopus 로고    scopus 로고
    • Mechanisms of progesterone receptor export from nuclei: Role of nuclear localization signal, nuclear export signal, and ran guanosine triphosphate
    • Tyagi RK, Amazit L, Lescop P, Milgrom E, Guiochon-Mantel A 1998 Mechanisms of progesterone receptor export from nuclei: role of nuclear localization signal, nuclear export signal, and ran guanosine triphosphate. Mol Endocrinol 12:1684-1695
    • (1998) Mol Endocrinol , vol.12 , pp. 1684-1695
    • Tyagi, R.K.1    Amazit, L.2    Lescop, P.3    Milgrom, E.4    Guiochon-Mantel, A.5
  • 49
    • 0035856514 scopus 로고    scopus 로고
    • DNA binding domains in diversem u clear receptors function as nuclear export signals
    • Black BE, Holaska JM, Rastinejad F, Paschal BM 2001 DNA binding domains in diversem u clear receptors function as nuclear export signals. Curr Biol 11:1749-1758
    • (2001) Curr Biol , vol.11 , pp. 1749-1758
    • Black, B.E.1    Holaska, J.M.2    Rastinejad, F.3    Paschal, B.M.4
  • 50
    • 0032919564 scopus 로고    scopus 로고
    • Direct visualization of the human estrogen receptor a reveals a role for ligand in the nuclear distribution of the receptor
    • Htun H, Holth LT, Walker D, Davie JR, Hager GL 1999 Direct visualization of the human estrogen receptor a reveals a role for ligand in the nuclear distribution of the receptor. Mol Biol Cell 10:471-486
    • (1999) Mol Biol Cell , vol.10 , pp. 471-486
    • Htun, H.1    Holth, L.T.2    Walker, D.3    Davie, J.R.4    Hager, G.L.5
  • 51
    • 3843069261 scopus 로고    scopus 로고
    • Molecular basis of ligand recognition by the mineralocorticoid and glucocorticoid receptors
    • Demonacos MK-DC, ed. Kerala, India: Research Sign-post
    • Fagart J, Hellal-Levy C, Souque A, Rafestin-Oblin ME 2002 Molecular basis of ligand recognition by the mineralocorticoid and glucocorticoid receptors. In: Demonacos MK-DC, ed. Molecular mechanisms of action of steroid hormone receptors. Kerala, India: Research Sign-post; 77-85
    • (2002) Molecular Mechanisms of Action of Steroid Hormone Receptors , pp. 77-85
    • Fagart, J.1    Hellal-Levy, C.2    Souque, A.3    Rafestin-Oblin, M.E.4
  • 52
    • 0035943099 scopus 로고    scopus 로고
    • Participation of critical residues from the extreme C-terminal end of the human androgen receptor in the ligand binding function
    • Tahiri B, Auzou G, Nicolas JC, Sultan C, Lupo B 2001 Participation of critical residues from the extreme C-terminal end of the human androgen receptor in the ligand binding function. Biochemistry 40:8431-8437
    • (2001) Biochemistry , vol.40 , pp. 8431-8437
    • Tahiri, B.1    Auzou, G.2    Nicolas, J.C.3    Sultan, C.4    Lupo, B.5
  • 53
    • 0032921063 scopus 로고    scopus 로고
    • Modulation of human mineralocorticoid receptor function by protein kinase A
    • Massaad C, Houard N, Lombes M, Barouki R 1999 Modulation of human mineralocorticoid receptor function by protein kinase A. Mol Endocrinol 13:57-65
    • (1999) Mol Endocrinol , vol.13 , pp. 57-65
    • Massaad, C.1    Houard, N.2    Lombes, M.3    Barouki, R.4
  • 56
    • 84889120137 scopus 로고
    • Improved methods for building protein models in electron density maps and the location of errors in these models
    • Jones TA, Zou JY, Cowan SW, Kjeldgaard 1991 Improved methods for building protein models in electron density maps and the location of errors in these models. Acta Crystallogr A 47:110-119
    • (1991) Acta Crystallogr A , vol.47 , pp. 110-119
    • Jones, T.A.1    Zou, J.Y.2    Cowan, S.W.3    Kjeldgaard4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.