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Volumn 17, Issue 3-4, 2011, Pages 256-265

Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; GLUTAMINE; GLUTATHIONE TRANSFERASE HEPATOCYTE NUCLEAR FACTOR 1ALPHA FUSION PROTEIN; GLYCINE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HYBRID PROTEIN; METHIONINE; PROLINE; THREONINE; TRYPTOPHAN; UNCLASSIFIED DRUG; VALINE;

EID: 79952837279     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/molmed.2010.00097     Document Type: Article
Times cited : (35)

References (35)
  • 1
    • 41149084500 scopus 로고    scopus 로고
    • Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
    • Murphy R, Ellard S, Hattersley AT. (2008) Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat. Clin. Pract. Endocrinol. Metab. 4:200-13.
    • (2008) Nat. Clin. Pract. Endocrinol. Metab , vol.4 , pp. 200-213
    • Murphy, R.1    Ellard, S.2    Hattersley, A.T.3
  • 2
    • 0026027585 scopus 로고
    • HNF-1, a member of a novel class of dimerizing homeodomain proteins
    • Mendel DB, Crabtree GR. (1991) HNF-1, a member of a novel class of dimerizing homeodomain proteins. J. Biol. Chem. 266:677-80.
    • (1991) J. Biol. Chem , vol.266 , pp. 677-680
    • Mendel, D.B.1    Crabtree, G.R.2
  • 3
    • 0032538883 scopus 로고    scopus 로고
    • Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolismsecretion coupling in a pancreatic beta-cell line
    • Wang H, Maechler P, Hagenfeldt KA, Wollheim CB. (1998) Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolismsecretion coupling in a pancreatic beta-cell line. EMBO J 17:6701-13.
    • (1998) EMBO J , vol.17 , pp. 6701-6713
    • Wang, H.1    Maechler, P.2    Hagenfeldt, K.A.3    Wollheim, C.B.4
  • 4
    • 0035512077 scopus 로고    scopus 로고
    • Loss of HNF-1alpha function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism
    • Shih DQ, et al. (2001) Loss of HNF-1alpha function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism. Diabetes 50:2472-80.
    • (2001) Diabetes , vol.50 , pp. 2472-2480
    • Shih, D.Q.1
  • 5
    • 0035807902 scopus 로고    scopus 로고
    • A transcription factor regulatory circuit in dif-ferentiated pancreatic cells
    • Boj SF, Parrizas M, Maestro MA, Ferrer J. (2001) A transcription factor regulatory circuit in dif-ferentiated pancreatic cells. Proc. Natl. Acad. Sci. U. S. A. 98:14481-6.
    • (2001) Proc. Natl. Acad. Sci. U. S. A , vol.98 , pp. 14481-14486
    • Boj, S.F.1    Parrizas, M.2    Maestro, M.A.3    Ferrer, J.4
  • 6
    • 0036736817 scopus 로고    scopus 로고
    • Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function
    • Hansen SK, et al. (2002) Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function. J. Clin. Invest. 110:827-33.
    • (2002) J. Clin. Invest , vol.110 , pp. 827-833
    • Hansen, S.K.1
  • 7
    • 0025892211 scopus 로고
    • HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro
    • Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR. (1991) HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro. Genes Dev. 5:1042-56.
    • (1991) Genes Dev , vol.5 , pp. 1042-1056
    • Mendel, D.B.1    Hansen, L.P.2    Graves, M.K.3    Conley, P.B.4    Crabtree, G.R.5
  • 8
    • 33748357551 scopus 로고    scopus 로고
    • Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young
    • Ellard S, Colclough K. (2006) Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum. Mutat. 27:854-69.
    • (2006) Hum. Mutat , vol.27 , pp. 854-869
    • Ellard, S.1    Colclough, K.2
  • 9
    • 40749151157 scopus 로고    scopus 로고
    • The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturityonset diabetes of the young (MODY)-3
    • Bellanne-Chantelot C, et al. (2008) The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturityonset diabetes of the young (MODY)-3. Diabetes 57:503-8.
    • (2008) Diabetes , vol.57 , pp. 503-508
    • Bellanne-Chantelot, C.1
  • 10
    • 33646416212 scopus 로고    scopus 로고
    • Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees
    • Fajans SS, Bell GI. (2006) Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia 49:1106-8.
    • (2006) Diabetologia , vol.49 , pp. 1106-1108
    • Fajans, S.S.1    Bell, G.I.2
  • 11
    • 0013198186 scopus 로고    scopus 로고
    • Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers
    • Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Hattersley AT. (2002) Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. Diabetes Care 25:2287-91.
    • (2002) Diabetes Care , vol.25 , pp. 2287-2291
    • Stride, A.1    Shepherd, M.2    Frayling, T.M.3    Bulman, M.P.4    Ellard, S.5    Hattersley, A.T.6
  • 12
    • 0042265784 scopus 로고    scopus 로고
    • Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of hepatocyte nuclear factor-1alpha mutations map to chromosomes 5p15, 9q22, and 14q24
    • Kim SH, et al. (2003) Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of hepatocyte nuclear factor-1alpha mutations map to chromosomes 5p15, 9q22, and 14q24. Diabetes 52:2182-6.
    • (2003) Diabetes , vol.52 , pp. 2182-2186
    • Kim, S.H.1
  • 13
    • 33745597077 scopus 로고    scopus 로고
    • Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes
    • Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT. (2006) Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum. Mol. Genet. 15:2216-24.
    • (2006) Hum. Mol. Genet , vol.15 , pp. 2216-2224
    • Harries, L.W.1    Ellard, S.2    Stride, A.3    Morgan, N.G.4    Hattersley, A.T.5
  • 14
    • 0033940358 scopus 로고    scopus 로고
    • The human HNF-3 genes: Cloning, partial sequence and mutation screening in patients with impaired glucose homeostasis
    • Navas MA, Vaisse C, Boger S, Heimesaat M, Kollee LA, Stoffel M. (2000) The human HNF-3 genes: cloning, partial sequence and mutation screening in patients with impaired glucose homeostasis. Hum. Hered. 50:370-81.
    • (2000) Hum. Hered , vol.50 , pp. 370-381
    • Navas, M.A.1    Vaisse, C.2    Boger, S.3    Heimesaat, M.4    Kollee, L.A.5    Stoffel, M.6
  • 15
    • 0025678378 scopus 로고
    • Molecular cloning, functional expression, and chromosomal localization of mouse hepatocyte nuclear factor 1
    • Kuo CJ, Conley PB, Hsieh CL, Francke U, Crabtree GR. (1990) Molecular cloning, functional expression, and chromosomal localization of mouse hepatocyte nuclear factor 1. Proc. Natl. Acad. Sci. U. S. A. 87:9838-42.
    • (1990) Proc. Natl. Acad. Sci. U. S. A , vol.87 , pp. 9838-9842
    • Kuo, C.J.1    Conley, P.B.2    Hsieh, C.L.3    Francke, U.4    Crabtree, G.R.5
  • 16
    • 0033028606 scopus 로고    scopus 로고
    • Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q)
    • Navas MA, Munoz-Elias EJ, Kim J, Shih D, Stoffel M. (1999) Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q). Diabetes 48:1459-65.
    • (1999) Diabetes , vol.48 , pp. 1459-1465
    • Navas, M.A.1    Munoz-Elias, E.J.2    Kim, J.3    Shih, D.4    Stoffel, M.5
  • 17
    • 33751552385 scopus 로고    scopus 로고
    • The homeoprotein Alx3 expressed in pancreatic beta-cells regulates insulin gene transcription by interacting with the basic helix-loop-helix protein E47
    • Mirasierra M, Vallejo M. (2006) The homeoprotein Alx3 expressed in pancreatic beta-cells regulates insulin gene transcription by interacting with the basic helix-loop-helix protein E47. Mol. Endocrinol. 20:2876-89.
    • (2006) Mol. Endocrinol , vol.20 , pp. 2876-2889
    • Mirasierra, M.1    Vallejo, M.2
  • 18
    • 0029099470 scopus 로고
    • Pancreatic-specific expression of the glucose transporter type 2 gene: Identification of ciselements and islet-specific trans-acting factors
    • Bonny C, Thompson N, Nicod P, Waeber G. (1995) Pancreatic-specific expression of the glucose transporter type 2 gene: identification of ciselements and islet-specific trans-acting factors. Mol. Endocrinol. 9:1413-26.
    • (1995) Mol. Endocrinol , vol.9 , pp. 1413-1426
    • Bonny, C.1    Thompson, N.2    Nicod, P.3    Waeber, G.4
  • 19
    • 30044443396 scopus 로고    scopus 로고
    • Effects of novel maturityonset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability
    • Galan M, et al. (2006) Effects of novel maturityonset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability. Biochem. J. 393:389-96.
    • (2006) Biochem. J , vol.393 , pp. 389-396
    • Galan, M.1
  • 21
    • 84969001783 scopus 로고
    • The attractions of proteins for small molecules and ions
    • Scatchard G. (1949). The attractions of proteins for small molecules and ions. Ann. N. Y. Acad. Sci. 51:660-72.
    • (1949) Ann. N. Y. Acad. Sci , vol.51 , pp. 660-672
    • Scatchard, G.1
  • 22
    • 0036460025 scopus 로고    scopus 로고
    • Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene
    • Cervin C, et al. (2002) Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene. Diabetologia 45:1703-8.
    • (2002) Diabetologia , vol.45 , pp. 1703-1708
    • Cervin, C.1
  • 24
    • 0026505090 scopus 로고
    • The iron regulatory region of ferritin mRNA is also a positive control element for iron-independent translation
    • Dix DJ, Lin PN, Kimata Y, Theil EC. (1992) The iron regulatory region of ferritin mRNA is also a positive control element for iron-independent translation. Biochemistry 31:2818-22.
    • (1992) Biochemistry , vol.31 , pp. 2818-2822
    • Dix, D.J.1    Lin, P.N.2    Kimata, Y.3    Theil, E.C.4
  • 25
    • 0030612733 scopus 로고    scopus 로고
    • The human integrin beta3 gene is 63 kb and contains a 5′-UTR sequence regulating expression
    • Wilhide CC, et al. (1997) The human integrin beta3 gene is 63 kb and contains a 5′-UTR sequence regulating expression. Blood 90:3951-61.
    • (1997) Blood , vol.90 , pp. 3951-3961
    • Wilhide, C.C.1
  • 26
    • 0035900647 scopus 로고    scopus 로고
    • When the message goes awry: Disease-producing mutations that influence mRNA content and performance
    • Mendell JT, Dietz HC. (2001) When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell 107:411-14.
    • (2001) Cell , vol.107 , pp. 411-414
    • Mendell, J.T.1    Dietz, H.C.2
  • 27
    • 0342905058 scopus 로고    scopus 로고
    • Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients
    • Godart F, et al. (2000) Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients. Hum. Mutat. 15:173-80.
    • (2000) Hum. Mutat , vol.15 , pp. 173-180
    • Godart, F.1
  • 28
    • 0034724671 scopus 로고    scopus 로고
    • Transcriptional activation by hepatocyte nuclear factor-1 requires synergism between multiple coactivator proteins
    • Soutoglou E, Papafotiou G, Katrakili N, Talianidis I. (2000) Transcriptional activation by hepatocyte nuclear factor-1 requires synergism between multiple coactivator proteins. J. Biol. Chem. 275:12515-20.
    • (2000) J. Biol. Chem , vol.275 , pp. 12515-12520
    • Soutoglou, E.1    Papafotiou, G.2    Katrakili, N.3    Talianidis, I.4
  • 29
    • 0028180450 scopus 로고
    • Hepatocyte nuclear factor-1 alpha (HNF-1 alpha) and HNF-1 beta regulate transcription via two elements in an intestine-specific promoter
    • Wu GD, Chen L, Forslund K, Traber PG. (1994) Hepatocyte nuclear factor-1 alpha (HNF-1 alpha) and HNF-1 beta regulate transcription via two elements in an intestine-specific promoter. J. Biol. Chem. 269:17080-5.
    • (1994) J. Biol. Chem , vol.269 , pp. 17080-17085
    • Wu, G.D.1    Chen, L.2    Forslund, K.3    Traber, P.G.4
  • 30
    • 21444446875 scopus 로고    scopus 로고
    • Homeodomain revisited: A lesson from disease-causing mutations
    • Chi YI. (2005) Homeodomain revisited: a lesson from disease-causing mutations. Hum. Genet. 116:433-44.
    • (2005) Hum. Genet , vol.116 , pp. 433-444
    • Chi, Y.I.1
  • 31
    • 42449098916 scopus 로고    scopus 로고
    • Triple diabetes: Coexistence of type 1 diabetes mellitus and a novel mutation in the gene responsible for MODY3 in an overweight adolescent
    • Bowden SA, Hoffman RP. (2008) Triple diabetes: coexistence of type 1 diabetes mellitus and a novel mutation in the gene responsible for MODY3 in an overweight adolescent. Pediatr. Diabetes 9:162-4.
    • (2008) Pediatr. Diabetes , vol.9 , pp. 162-164
    • Bowden, S.A.1    Hoffman, R.P.2
  • 32
    • 0034644467 scopus 로고    scopus 로고
    • A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes
    • Ito M, Achermann JC, Jameson JL. (2000) A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes. J. Biol. Chem. 275:31708-14.
    • (2000) J. Biol. Chem , vol.275 , pp. 31708-31714
    • Ito, M.1    Achermann, J.C.2    Jameson, J.L.3
  • 33
    • 66349097174 scopus 로고    scopus 로고
    • Hnf1alpha (MODY3) controls tissue-specific transcriptional programs and exerts opposed effects on cell growth in pancreatic islets and liver
    • Servitja JM, et al. (2009) Hnf1alpha (MODY3) controls tissue-specific transcriptional programs and exerts opposed effects on cell growth in pancreatic islets and liver. Mol. Cell. Biol. 29:2945-59.
    • (2009) Mol. Cell. Biol , vol.29 , pp. 2945-2959
    • Servitja, J.M.1
  • 34
    • 0036323270 scopus 로고    scopus 로고
    • A genetic switch in pancreatic beta-cells: Implications for differentiation and haploinsufficiency
    • Ferrer J. (2002) A genetic switch in pancreatic beta-cells: implications for differentiation and haploinsufficiency. Diabetes 51:2355-62.
    • (2002) Diabetes , vol.51 , pp. 2355-2362
    • Ferrer, J.1
  • 35
    • 77953221435 scopus 로고    scopus 로고
    • Epistasis of transcriptomes reveals synergism between transcriptional activators Hnf-1alpha and Hnf-4alpha
    • Boj SF, Petrov D, Ferrer J. (2010) Epistasis of transcriptomes reveals synergism between transcriptional activators Hnf-1alpha and Hnf-4alpha. PLoS Genet. 6:e1000970.
    • (2010) PLoS Genet , vol.6
    • Boj, S.F.1    Petrov, D.2    Ferrer, J.3


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