메뉴 건너뛰기




Volumn 46, Issue 5, 2003, Pages 721-727

Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1α gene in a Korean family with MODY3

Author keywords

Glucose transporter type 2; HNF 1 ; HNF 1 ; Insulin; MODY; Mutation; p300

Indexed keywords

GLUCOSE TRANSPORTER 2; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; INSULIN; NUCLEAR FACTOR I; PROTEIN P300; UNCLASSIFIED DRUG;

EID: 0038353162     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-003-1079-7     Document Type: Article
Times cited : (23)

References (25)
  • 1
    • 0024425880 scopus 로고
    • Maturity-onset diabetes of the young (MODY)
    • Fajans SS (1989) Maturity-onset diabetes of the young (MODY). Diabetes Metab Rev 5:579-606
    • (1989) Diabetes Metab Rev , vol.5 , pp. 579-606
    • Fajans, S.S.1
  • 2
    • 10544249874 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
    • Yamagata K, Oda N, Kaisaki PJ et al. (1996) Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature 384:455-458
    • (1996) Nature , vol.384 , pp. 455-458
    • Yamagata, K.1    Oda, N.2    Kaisaki, P.J.3
  • 3
    • 0024452687 scopus 로고
    • The liver-specific transcription factor LF-B1 contains a highly diverged homeobox DNA binding domain
    • Frain M, Swart G, Monaci P et al. (1989) The liver-specific transcription factor LF-B1 contains a highly diverged homeobox DNA binding domain. Cell 59:145-157
    • (1989) Cell , vol.59 , pp. 145-157
    • Frain, M.1    Swart, G.2    Monaci, P.3
  • 4
    • 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 266:677-680
    • (1991) J Biol Chem , vol.266 , pp. 677-680
    • Mendel, D.B.1    Crabtree, G.R.2
  • 5
    • 0026928723 scopus 로고
    • HNF1, a homeoprotein member of the hepatic transcription regulatory network
    • Tronche F, Yaniv M (1992) HNF1, a homeoprotein member of the hepatic transcription regulatory network. Bioessays 14:579-587
    • (1992) Bioessays , vol.14 , pp. 579-587
    • Tronche, F.1    Yaniv, M.2
  • 6
    • 0035122282 scopus 로고    scopus 로고
    • Beta-cell genes and diabetes: Molecular and clinical characterization of mutations in transcription factors
    • Frayling TM, Evans JC, Bulman MP et al. (2001) Beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 50 [Suppl 1]:S94-S100
    • (2001) Diabetes , vol.50 , Issue.SUPPL. 1
    • Frayling, T.M.1    Evans, J.C.2    Bulman, M.P.3
  • 7
    • 15444341853 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM
    • Iwasaki N, Oda N, Ogata M et al. (1997) Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes 46:1504-1508
    • (1997) Diabetes , vol.46 , pp. 1504-1508
    • Iwasaki, N.1    Oda, N.2    Ogata, M.3
  • 8
    • 0031453186 scopus 로고    scopus 로고
    • Mutation in hepatocyte nuclear factor-1 β gene (TCF2) associated with MODY
    • Horikawa Y, Iwasaki N, Hara M et al. (1997) Mutation in hepatocyte nuclear factor-1 β gene (TCF2) associated with MODY. Nat Genet 17:384-385
    • (1997) Nat Genet , vol.17 , pp. 384-385
    • Horikawa, Y.1    Iwasaki, N.2    Hara, M.3
  • 9
    • 0031848797 scopus 로고    scopus 로고
    • Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1alpha is dominant negative
    • Yamagata K, Yang Q, Yamamoto K et al. (1998) Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1alpha is dominant negative. Diabetes 47:1231-1235
    • (1998) Diabetes , vol.47 , pp. 1231-1235
    • Yamagata, K.1    Yang, Q.2    Yamamoto, K.3
  • 10
    • 0032538883 scopus 로고    scopus 로고
    • Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolism-secretion 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 metabolism-secretion coupling in a pancreatic beta-cell line. EMBO J 17:6701-6713
    • (1998) EMBO J , vol.17 , pp. 6701-6713
    • Wang, H.1    Maechler, P.2    Hagenfeldt, K.A.3    Wollheim, C.B.4
  • 11
    • 0033531957 scopus 로고    scopus 로고
    • Loss-of-function and dominant-negative mechanisms associated with hepatocyte nuclear factor-1beta mutations in familial type 2 diabetes mellitus
    • Tomura H, Nishigori H, Sho K, Yamagata K, Inoue I, Takeda J (1999) Loss-of-function and dominant-negative mechanisms associated with hepatocyte nuclear factor-1beta mutations in familial type 2 diabetes mellitus. J Biol Chem 274:12975-12978
    • (1999) J Biol Chem , vol.274 , pp. 12975-12978
    • Tomura, H.1    Nishigori, H.2    Sho, K.3    Yamagata, K.4    Inoue, I.5    Takeda, J.6
  • 12
    • 0033600787 scopus 로고    scopus 로고
    • Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta
    • Okita K, Yang Q, Yamagata K et al. (1999) Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta. Biochem Biophys Res Commun 263:566-569
    • (1999) Biochem Biophys Res Commun , vol.263 , pp. 566-569
    • Okita, K.1    Yang, Q.2    Yamagata, K.3
  • 13
    • 0033048609 scopus 로고    scopus 로고
    • Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins
    • Yamada S, Tomura H, Nishigori H et al. (1999) Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins. Diabetes 48:645-648
    • (1999) Diabetes , vol.48 , pp. 645-648
    • Yamada, S.1    Tomura, H.2    Nishigori, H.3
  • 14
    • 0032080237 scopus 로고    scopus 로고
    • Steroid receptor coactivator-1 interacts with the p50 subunit and coactivates nuclear factor kappaB-mediated transactivations
    • Na SY, Lee SK, Han SJ, Choi HS, Im SY, Lee JW (1998) Steroid receptor coactivator-1 interacts with the p50 subunit and coactivates nuclear factor kappaB-mediated transactivations. J Biol Chem 273:10831-10834
    • (1998) J Biol Chem , vol.273 , pp. 10831-10834
    • Na, S.Y.1    Lee, S.K.2    Han, S.J.3    Choi, H.S.4    Im, S.Y.5    Lee, J.W.6
  • 15
    • 0028246161 scopus 로고
    • E1A-associated p300 and CREB-associated CBP belong to a conserved family of coactivators
    • Arany Z, Sellers WR, Livingston DM, Eckner R (1994) E1A-associated p300 and CREB-associated CBP belong to a conserved family of coactivators. Cell 77:799-800
    • (1994) Cell , vol.77 , pp. 799-800
    • Arany, Z.1    Sellers, W.R.2    Livingston, D.M.3    Eckner, R.4
  • 17
    • 0036312080 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor-1alpha recruits the transcriptional co-activator p300 on the GLUT2 gene promoter
    • Ban N, Yamada Y, Someya Y et al. (2002) Hepatocyte nuclear factor-1alpha recruits the transcriptional co-activator p300 on the GLUT2 gene promoter. Diabetes 51:1409-1418
    • (2002) Diabetes , vol.51 , pp. 1409-1418
    • Ban, N.1    Yamada, Y.2    Someya, Y.3
  • 18
    • 0033544962 scopus 로고    scopus 로고
    • Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations
    • Vaxillaire M, Abderrahmani A, Boutin P et al. (1999) Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations. J Biol Chem 274:35639-35646
    • (1999) J Biol Chem , vol.274 , pp. 35639-35646
    • Vaxillaire, M.1    Abderrahmani, A.2    Boutin, P.3
  • 19
    • 0034813412 scopus 로고    scopus 로고
    • Analysis of a non-functional HNF-1alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes
    • Yoshiuchi I, Yamagata K, Yoshimoto M et al. (2001) Analysis of a non-functional HNF-1alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes. Hum Mutat 18:345-351
    • (2001) Hum Mutat , vol.18 , pp. 345-351
    • Yoshiuchi, I.1    Yamagata, K.2    Yoshimoto, M.3
  • 20
    • 0033539934 scopus 로고    scopus 로고
    • Structure/function studies of hepatocyte nuclear factor-1alpha, a diabetes-associated transcription factor
    • Yang Q, Yamagata K, Yamamoto K et al. (1999) Structure/function studies of hepatocyte nuclear factor-1alpha, a diabetes-associated transcription factor. Biochem Biophys Res Commun 266:196-202
    • (1999) Biochem Biophys Res Commun , vol.266 , pp. 196-202
    • Yang, Q.1    Yamagata, K.2    Yamamoto, K.3
  • 21
    • 0030740208 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor 1alpha gene inactivation impairs chromatin remodeling and demethylation of the phenylalanine hydroxylase gene
    • Pontoglio M, Faust DM, Doyen A, Yaniv M, Weiss MC (1997) Hepatocyte nuclear factor 1alpha gene inactivation impairs chromatin remodeling and demethylation of the phenylalanine hydroxylase gene. Mol Cell Biol 17:4948-4956
    • (1997) Mol Cell Biol , vol.17 , pp. 4948-4956
    • Pontoglio, M.1    Faust, D.M.2    Doyen, A.3    Yaniv, M.4    Weiss, M.C.5
  • 22
    • 0033621124 scopus 로고    scopus 로고
    • The HNF-4/HNF-1alpha transactivation cascade regulates gene activity and chromatin structure of the human serine protease inhibitor gene cluster at 14q32.1
    • Rollini P, Fournier RE (1999) The HNF-4/HNF-1alpha transactivation cascade regulates gene activity and chromatin structure of the human serine protease inhibitor gene cluster at 14q32.1. Proc Natl Acad Sci USA 96:10308-10313
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 10308-10313
    • Rollini, P.1    Fournier, R.E.2
  • 23
    • 0028985162 scopus 로고
    • Adenoviral E1A-associated protein p300 as a functional homologue of the transcriptional co-activator CBP
    • Lundblad JR, Kwok RP, Laurance ME, Harter ML, Goodman RH (1995) Adenoviral E1A-associated protein p300 as a functional homologue of the transcriptional co-activator CBP. Nature 374:85-88
    • (1995) Nature , vol.374 , pp. 85-88
    • Lundblad, J.R.1    Kwok, R.P.2    Laurance, M.E.3    Harter, M.L.4    Goodman, R.H.5
  • 24
    • 0028060029 scopus 로고
    • Nuclear protein CBP is a coactivator for the transcription factor CREB
    • Kwok RP, Lundblad JR, Chrivia JC et al. (1994) Nuclear protein CBP is a coactivator for the transcription factor CREB. Nature 370:223-226
    • (1994) Nature , vol.370 , pp. 223-226
    • Kwok, R.P.1    Lundblad, J.R.2    Chrivia, J.C.3
  • 25
    • 0035960122 scopus 로고    scopus 로고
    • Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
    • Fajans SS, Bell GI, Polonsky KS (2001) Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345:971-980
    • (2001) N Engl J Med , vol.345 , pp. 971-980
    • Fajans, S.S.1    Bell, G.I.2    Polonsky, K.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.