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Volumn 47, Issue 6, 1998, Pages 985-990

MODY1 mutation Q268X in hepatocyte nuclear factor allows for dimerization in solution but causes abnormal subcellular localization

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR;

EID: 0031802977     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.47.6.985     Document Type: Article
Times cited : (43)

References (36)
  • 1
    • 0030891555 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus
    • Velho G, Froguel P: Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus. Diabetes Metab 2:34-37, 1997
    • (1997) Diabetes Metab , vol.2 , pp. 34-37
    • Velho, G.1    Froguel, P.2
  • 2
    • 0026032055 scopus 로고
    • Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q
    • Bell GI, Xiang KS, Newman MV, Wu SH, Wright LG, Fajans SS, Spielman RS, Cox NJ: Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. Proc Natl Acad Sci USA 88:1484-1488, 1991
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 1484-1488
    • Bell, G.I.1    Xiang, K.S.2    Newman, M.V.3    Wu, S.H.4    Wright, L.G.5    Fajans, S.S.6    Spielman, R.S.7    Cox, N.J.8
  • 8
    • 0030850883 scopus 로고    scopus 로고
    • A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a U.K. pedigree with maturity-onset diabetes of the young
    • Bulman MP, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S, Hattersley AT: A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a U.K. pedigree with maturity-onset diabetes of the young. Diabetologia 40:859-862, 1997
    • (1997) Diabetologia , vol.40 , pp. 859-862
    • Bulman, M.P.1    Dronsfield, M.J.2    Frayling, T.3    Appleton, M.4    Bain, S.C.5    Ellard, S.6    Hattersley, A.T.7
  • 9
    • 0025690311 scopus 로고
    • Liver-enriched transcription factor HNF-4 is a novel member of the steroid hormone receptor superfamily
    • Sladek FM, Zhong W, Lai E, Darnell JE: Liver-enriched transcription factor HNF-4 is a novel member of the steroid hormone receptor superfamily. Genes Dev 4:2353-2365, 1990
    • (1990) Genes Dev , vol.4 , pp. 2353-2365
    • Sladek, F.M.1    Zhong, W.2    Lai, E.3    Darnell, J.E.4
  • 10
    • 0028246642 scopus 로고
    • Expression of the L-type pyruvate kinase gene and of the hepatocyte nuclear factor 4 transcription factor in exocrine and endocrine pancreas
    • Miquerol L, Lopez S, Cartier N, Tulliez M, Raymondjean M, Kahn A: Expression of the L-type pyruvate kinase gene and of the hepatocyte nuclear factor 4 transcription factor in exocrine and endocrine pancreas. J Biol Chem 269:8944-8951, 1994
    • (1994) J Biol Chem , vol.269 , pp. 8944-8951
    • Miquerol, L.1    Lopez, S.2    Cartier, N.3    Tulliez, M.4    Raymondjean, M.5    Kahn, A.6
  • 11
    • 0001418036 scopus 로고
    • Hepatocyte Nuclear Factor 4 (HNF-4)
    • Tronche F, Yaniv M, Eds. Austin, TX, RG Landes
    • Sladek FM: Hepatocyte Nuclear Factor 4 (HNF-4). In Liver Gene Expression. Tronche F, Yaniv M, Eds. Austin, TX, RG Landes, 1994, p. 207-230
    • (1994) Liver Gene Expression , pp. 207-230
    • Sladek, F.M.1
  • 12
    • 0028148776 scopus 로고
    • Disruption of the HNF-4 gene, expressed in visceral endoderm, leads to cell death in embryonic ectoderm and impaired gastrulation of mouse embryos
    • Chen W, Manova K, Weinstein D, Duncan S, Plump A, Prezioso V, Bachvarova R, Darnell JJ: Disruption of the HNF-4 gene, expressed in visceral endoderm, leads to cell death in embryonic ectoderm and impaired gastrulation of mouse embryos. Genes Dev 8:2466-2477, 1994
    • (1994) Genes Dev , vol.8 , pp. 2466-2477
    • Chen, W.1    Manova, K.2    Weinstein, D.3    Duncan, S.4    Plump, A.5    Prezioso, V.6    Bachvarova, R.7    Darnell, J.J.8
  • 20
    • 0029113123 scopus 로고
    • Exclusive homodimerization of orphan receptor hepatocyte nuclear factor 4 defines a new subclass of nuclear receptors
    • Jiang G, Nepomuceno L, Hopkins K, Sladek FM: Exclusive homodimerization of orphan receptor hepatocyte nuclear factor 4 defines a new subclass of nuclear receptors. Mol Cell Biol 15:5131-5143, 1995
    • (1995) Mol Cell Biol , vol.15 , pp. 5131-5143
    • Jiang, G.1    Nepomuceno, L.2    Hopkins, K.3    Sladek, F.M.4
  • 21
    • 0031012836 scopus 로고    scopus 로고
    • The DNA binding domain of hepatocyte nuclear factor 4 mediates cooperative, specific binding to DNA and heterodimerization with the retinoid X receptor α
    • Jiang G, Sladek FM: The DNA binding domain of hepatocyte nuclear factor 4 mediates cooperative, specific binding to DNA and heterodimerization with the retinoid X receptor α. J Biol Chem 272:1218-1225, 1997
    • (1997) J Biol Chem , vol.272 , pp. 1218-1225
    • Jiang, G.1    Sladek, F.M.2
  • 22
    • 0027993931 scopus 로고
    • Cloning and sequencing of cDNAs encoding the human hepatocyte nuclear factor 4 indicate the presence of two isoforms in human liver
    • Chartier FL, Bossu J-P, Laudet V, Fruchart J-C, Laine B: Cloning and sequencing of cDNAs encoding the human hepatocyte nuclear factor 4 indicate the presence of two isoforms in human liver. Gene 147:269-272, 1994
    • (1994) Gene , vol.147 , pp. 269-272
    • Chartier, F.L.1    Bossu, J.-P.2    Laudet, V.3    Fruchart, J.-C.4    Laine, B.5
  • 23
    • 0030956629 scopus 로고    scopus 로고
    • The nuclear matrix revealed by eluting chromatin from a cross-linked nucleus
    • Nickerson JA, Krockmalnic G, Wan KM, Penman S: The nuclear matrix revealed by eluting chromatin from a cross-linked nucleus. Proc Natl Acad Sci USA 94:4446-4450, 1997
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 4446-4450
    • Nickerson, J.A.1    Krockmalnic, G.2    Wan, K.M.3    Penman, S.4
  • 24
    • 0031171266 scopus 로고    scopus 로고
    • Intranuclear network of 3-5 run and 8-10 nm fibers in EL-4 lymphoma cells
    • Padros MR, Giles DM, Suarez MD: Intranuclear network of 3-5 run and 8-10 nm fibers in EL-4 lymphoma cells. Cell Biol Int 21:367-73, 1997
    • (1997) Cell Biol int , vol.21 , pp. 367-373
    • Padros, M.R.1    Giles, D.M.2    Suarez, M.D.3
  • 25
    • 0023746497 scopus 로고
    • Cell type-specific expression of the human apoB gene is controlled by two cis-acting regulatory regions
    • Das HK, Leff T, Breslow JL: Cell type-specific expression of the human apoB gene is controlled by two cis-acting regulatory regions. J Biol Chem 263:11452-11458, 1988
    • (1988) J Biol Chem , vol.263 , pp. 11452-11458
    • Das, H.K.1    Leff, T.2    Breslow, J.L.3
  • 26
    • 0024623863 scopus 로고
    • A DNA cassette containing a trimerized SV40 polyadenylation signal which efficiently blocks spurious plasmid initiated transcription
    • Maxwell I, Harrison G, Wood W, Maxwell F: A DNA cassette containing a trimerized SV40 polyadenylation signal which efficiently blocks spurious plasmid initiated transcription. Biotechniques 7:276-280, 1989
    • (1989) Biotechniques , vol.7 , pp. 276-280
    • Maxwell, I.1    Harrison, G.2    Wood, W.3    Maxwell, F.4
  • 27
    • 0024829771 scopus 로고
    • Optimized use of the firefly luciferase assay as a reporter gene in mammalian cell lines
    • Brasier AR, Tate JE, Habener JF: Optimized use of the firefly luciferase assay as a reporter gene in mammalian cell lines. Biotechniques 7:1116-1122, 1989
    • (1989) Biotechniques , vol.7 , pp. 1116-1122
    • Brasier, A.R.1    Tate, J.E.2    Habener, J.F.3
  • 28
    • 0030851847 scopus 로고    scopus 로고
    • Proposed mechanism for the stabilization of nuclear receptor DNA binding via protein dimerization
    • Jiang G, Lee U, Sladek FM: Proposed mechanism for the stabilization of nuclear receptor DNA binding via protein dimerization. Mol Cell Biol 17:6546-6554, 1997
    • (1997) Mol Cell Biol , vol.17 , pp. 6546-6554
    • Jiang, G.1    Lee, U.2    Sladek, F.M.3
  • 29
    • 0029808451 scopus 로고    scopus 로고
    • TVanscribing diabetes
    • Todd JA: TVanscribing diabetes. Nature 384:407-408, 1996
    • (1996) Nature , vol.384 , pp. 407-408
    • Todd, J.A.1
  • 30
    • 0027204617 scopus 로고
    • HNF4 and HNF1 as well as a panel of hepatic functions are extinguished and reexpressed in parallel in chromosomally reduced rat hepatoma-human flbroblast hybrids
    • Griffo G, Hamon-Benais C, Angrand P, Fox M, West L, Lecoq O, Povey S, Cassio D, Weiss M: HNF4 and HNF1 as well as a panel of hepatic functions are extinguished and reexpressed in parallel in chromosomally reduced rat hepatoma-human flbroblast hybrids. J Cell Biol 121:887-898, 1993
    • (1993) J Cell Biol , vol.121 , pp. 887-898
    • Griffo, G.1    Hamon-Benais, C.2    Angrand, P.3    Fox, M.4    West, L.5    Lecoq, O.6    Povey, S.7    Cassio, D.8    Weiss, M.9
  • 31
    • 0026730174 scopus 로고
    • Elements responsible for hormonal control and tissue specificity of L-type pyruvate kinase gene expression in transgenic mice
    • Cuif M-H, Cognet M, Boquet D, Tremp G, Kahn A, Vaulont S: Elements responsible for hormonal control and tissue specificity of L-type pyruvate kinase gene expression in transgenic mice. Mol Cell Biol 12:4852-4861, 1992
    • (1992) Mol Cell Biol , vol.12 , pp. 4852-4861
    • Cuif, M.-H.1    Cognet, M.2    Boquet, D.3    Tremp, G.4    Kahn, A.5    Vaulont, S.6
  • 33
    • 0026742624 scopus 로고
    • Hepatocyte nuclear factor 1α is expressed in a hamster insulinoma line and transactivates the rat insulin I gene
    • Emens LA, Landers DW, Moss LG: Hepatocyte nuclear factor 1α is expressed in a hamster insulinoma line and transactivates the rat insulin I gene. Proc Natl Acad Sci USA 89:7300-7304, 1992
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 7300-7304
    • Emens, L.A.1    Landers, D.W.2    Moss, L.G.3
  • 34
    • 0030798412 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4α binding site in the promoter of the hepatocyte nuclear factor-1α gene
    • Gragnoli C, Lindner T, Cockburn BN, Kaisaki PJ, Gragnoli F, Marozzi G, Bell GI: Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4α binding site in the promoter of the hepatocyte nuclear factor-1α gene. Diabetes 46:1648-1651, 1997
    • (1997) Diabetes , vol.46 , pp. 1648-1651
    • Gragnoli, C.1    Lindner, T.2    Cockburn, B.N.3    Kaisaki, P.J.4    Gragnoli, F.5    Marozzi, G.6    Bell, G.I.7
  • 35
    • 0030695445 scopus 로고    scopus 로고
    • The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism
    • Stoffel M, Duncan SA: The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci USA 94:13209-13214, 1997
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 13209-13214
    • Stoffel, M.1    Duncan, S.A.2
  • 36
    • 0029012163 scopus 로고
    • Crystal structure of the ligand-binding domain of the human nuclear receptor RXR-α
    • Bourguet W, Ruff M, Chambon P, Gronemeyer H, Moras D: Crystal structure of the ligand-binding domain of the human nuclear receptor RXR-α. Nature 375:377-382, 1995
    • (1995) Nature , vol.375 , pp. 377-382
    • Bourguet, W.1    Ruff, M.2    Chambon, P.3    Gronemeyer, H.4    Moras, D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.