메뉴 건너뛰기




Volumn 60, Issue 1, 2011, Pages 336-344

Both polymorphic variable number of tandem repeats and autoimmune regulator modulate differential expression of insulin in human thymic epithelial cells

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; GENOMIC DNA; INSULIN; LUCIFERASE; MESSENGER RNA; REPETITIVE DNA;

EID: 78751493721     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db10-0255     Document Type: Article
Times cited : (28)

References (41)
  • 1
    • 23444454380 scopus 로고    scopus 로고
    • The insulin gene in type 1 diabetes
    • Pugliese A. The insulin gene in type 1 diabetes. IUBMB Life 2005;57:463-468
    • (2005) IUBMB Life , vol.57 , pp. 463-468
    • Pugliese, A.1
  • 3
    • 0020080870 scopus 로고
    • The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences
    • Bell GI, Selby MJ, Rutter WJ. The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature 1982;295:31-35
    • (1982) Nature , vol.295 , pp. 31-35
    • Bell, G.I.1    Selby, M.J.2    Rutter, W.J.3
  • 4
    • 0028881617 scopus 로고
    • The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription
    • Kennedy GC, German MS, Rutter WJ. The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nat Genet 1995;9:293-298
    • (1995) Nat Genet , vol.9 , pp. 293-298
    • Kennedy, G.C.1    German, M.S.2    Rutter, W.J.3
  • 6
    • 0027200763 scopus 로고
    • Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR
    • Lucassen AM, Julier C, Beressi JP, Boitard C, Froguel P, Lathrop M, Bell JI. Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nat Genet 1993;4:305-310
    • (1993) Nat Genet , vol.4 , pp. 305-310
    • Lucassen, A.M.1    Julier, C.2    Beressi, J.P.3    Boitard, C.4    Froguel, P.5    Lathrop, M.6    Bell, J.I.7
  • 7
    • 18244421874 scopus 로고    scopus 로고
    • The insulin gene is transcribed in the human thymus and transcription levels correlated with allellic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes
    • Pugliese A, Zeller M, Fernandez A Jr, Zalcberg IJ, Bartlett RJ, Ricordi C, Pietropaolo M, Eisenbarth GS, Bennett ST, Patel DD. The insulin gene is transcribed in the human thymus and transcription levels correlated with allellic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat Genet 1997;15:293-297
    • (1997) Nat Genet , vol.15 , pp. 293-297
    • Pugliese, A.1    Zeller, M.2    Jr, F.A.3    Zalcberg, I.J.4    Bartlett, R.J.5    Ricordi, C.6    Pietropaolo, M.7    Eisenbarth, G.S.8    Bennett, S.T.9    Patel, D.D.10
  • 9
    • 0021343570 scopus 로고
    • A polymorphic locus near the human insulin gene is associated with insulin dependent diabetes mellitus
    • Bell GI, Horita S, Karam JH. A polymorphic locus near the human insulin gene is associated with insulin dependent diabetes mellitus. Diabetes 1984;33:176-183
    • (1984) Diabetes , vol.33 , pp. 176-183
    • Bell, G.I.1    Horita, S.2    Karam, J.H.3
  • 11
    • 0001017310 scopus 로고    scopus 로고
    • IDDM2-VNTR encoded susceptibility to type 1 diabetes: Dominant protection and parental transmission of alleles of the insulin gene-linked minisatellite locus
    • Bennett ST, Wilson AJ, Cucca F, Nerup J, Pociot F, McKinney PA, Barnett AH, Bain SC, Todd JA. IDDM2-VNTR encoded susceptibility to type 1 diabetes: Dominant protection and parental transmission of alleles of the insulin gene-linked minisatellite locus. J Autoimmun 1996;9:415-421
    • (1996) J Autoimmun , vol.9 , pp. 415-421
    • Bennett, S.T.1    Wilson, A.J.2    Cucca, F.3    Nerup, J.4    Pociot, F.5    McKinney, P.A.6    Barnett, A.H.7    Bain, S.C.8    Todd, J.A.9
  • 12
    • 0021807826 scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): Autosomal recessive inheritance
    • Ahonen P. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): autosomal recessive inheritance. Clin Genet 1985;27: 535-542
    • (1985) Clin Genet , vol.27 , pp. 535-542
    • Ahonen, P.1
  • 13
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED) in a series of 68 patients
    • Ahonen P, Myllarniemi S, Sipila I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990;322:1829
    • (1990) N Engl J Med , vol.322 , pp. 1829
    • Ahonen, P.1    Myllarniemi, S.2    Sipila, I.3    Perheentupa, J.4
  • 14
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
    • Finnish-German Apeced Consortium. The Finnish-German APECED Consortium Atuoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
    • Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. The Finnish-German APECED Consortium Atuoimmune Polyendocrinopathy-Candidiasis- Ectodermal Dystrophy. Nat Genet 1997;17:399-403
    • (1997) Nat Genet , vol.17 , pp. 399-403
  • 18
    • 0021745142 scopus 로고
    • Analysis of a 1963 -bp polymorphic region flanking the human insulin gene
    • Owerbach D, Aagaard L. Analysis of a 1963-bp polymorphic region flanking the human insulin gene. Gene 1984;32:475-479
    • (1984) Gene , vol.32 , pp. 475-479
    • Owerbach, D.1    Aagaard, L.2
  • 19
    • 0028246975 scopus 로고
    • Establishment and characterization of cloned human thymic epithelial cell lines. Analysis of adhesion molecule expression and cytokine production
    • Fernandez E, Vicente A, Zapata A, Brera B, Lozano JJ, Martinez C, Toribio ML. Establishment and characterization of cloned human thymic epithelial cell lines. Analysis of adhesion molecule expression and cytokine production. Blood 1994;83:3245-3254
    • (1994) Blood , vol.83 , pp. 3245-3254
    • Fernandez, E.1    Vicente, A.2    Zapata, A.3    Brera, B.4    Lozano, J.J.5    Martinez, C.6    Toribio, M.L.7
  • 20
    • 33750581391 scopus 로고    scopus 로고
    • Isolation and characterization of proinsulin-producing medullary thymic epithelial cell clones
    • Palumbo MO, Levi D, Chentouti AA, Polychronakos C. Isolation and characterization of proinsulin-producing medullary thymic epithelial cell clones. Diabetes 2006;55:2595-2601
    • (2006) Diabetes , vol.55 , pp. 2595-2601
    • Palumbo, M.O.1    Levi, D.2    Chentouti, A.A.3    Polychronakos, C.4
  • 23
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • Wellcome Trust Case Control Consortium
    • Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-678
    • (2007) Nature , vol.447 , pp. 661-678
  • 24
    • 0029987192 scopus 로고    scopus 로고
    • The search for IDDM susceptibility genes
    • Owerbach D, Gabbay KH. The search for IDDM susceptibility genes. Diabetes 1996;45:544-551
    • (1996) Diabetes , vol.45 , pp. 544-551
    • Owerbach, D.1    Gabbay, K.H.2
  • 26
    • 33644765927 scopus 로고    scopus 로고
    • Variants in the human insulin gene that affect pre-mRNA splicing: Is 23HphI a functional single nucleotide polymorphism at IDDM2?
    • Kralovicova J, Gaunt TR, Rodriguez S, Wood PJ, Day INM, Vorechovsky I. Variants in the human insulin gene that affect pre-mRNA splicing: Is 23HphI a functional single nucleotide polymorphism at IDDM2? Diabetes 2006;55:260-264
    • (2006) Diabetes , vol.55 , pp. 260-264
    • Kralovicova, J.1    Gaunt, T.R.2    Rodriguez, S.3    Wood, P.J.4    Inm, D.5    Vorechovsky, I.6
  • 27
    • 34247859002 scopus 로고    scopus 로고
    • Questioning INS VNTR role in obesity and diabetes: Subclasses tag IGF-INS-TH haplotypes; And 23 HphI as a STEP (splicing and translational efficiency polymorphism)
    • Day IN, Rodriguez S, Kralovicova J, Wood PJ, Vorechovsky I, Gaunt TR. Questioning INS VNTR role in obesity and diabetes: subclasses tag IGF-INS-TH haplotypes; and 23 HphI as a STEP (splicing and translational efficiency polymorphism). Physiol Genomics 2006;28:113
    • (2006) Physiol Genomics , vol.28 , pp. 113
    • Day, I.N.1    Rodriguez, S.2    Kralovicova, J.3    Wood, P.J.4    Vorechovsky, I.5    Gaunt, T.R.6
  • 28
    • 27844563909 scopus 로고    scopus 로고
    • Insulin alleles and autoimmune regulator (AIRE) gene expression both influence insulin expression in the thymus
    • Sabater L, Ferrer-Francesch X, Sospedra M, Caro P, Juan M, Pujol-Borrell R. Insulin alleles and autoimmune regulator (AIRE) gene expression both influence insulin expression in the thymus. J Autoimmun 2005;25:312-318
    • (2005) J Autoimmun , vol.25 , pp. 312-318
    • Sabater, L.1    Ferrer-Francesch, X.2    Sospedra, M.3    Caro, P.4    Juan, M.5    Pujol-Borrell, R.6
  • 29
    • 34147128054 scopus 로고    scopus 로고
    • Highly variable expression of tissue-restricted self-antigens in human thymus: Implications for selftolerance and autoimmunity
    • Taubert R, Schwendemann J, Kyewski B. Highly variable expression of tissue-restricted self-antigens in human thymus: implications for selftolerance and autoimmunity. Eur J Immunol 2007;37:838-848
    • (2007) Eur J Immunol , vol.37 , pp. 838-848
    • Taubert, R.1    Schwendemann, J.2    Kyewski, B.3
  • 30
    • 70349194383 scopus 로고    scopus 로고
    • Thymus-specific deletion of insulin induces autoimmune diabetes
    • Fan Y, Rudert WA, Grupillo M, He J, Sisino G, Trucco M. Thymus-specific deletion of insulin induces autoimmune diabetes. EMBO J 2009;28:2812-2824
    • (2009) EMBO J , vol.28 , pp. 2812-2824
    • Fan, Y.1    Rudert, W.A.2    Grupillo, M.3    He, J.4    Sisino, G.5    Trucco, M.6
  • 31
    • 33847355272 scopus 로고    scopus 로고
    • Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes
    • Marchand L, Polychronakos C. Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes. Diabetes 2007;56:709-713
    • (2007) Diabetes , vol.56 , pp. 709-713
    • Marchand, L.1    Polychronakos, C.2
  • 32
    • 0029022917 scopus 로고
    • Genetic analysis of type 1 diabetes using whole genome approaches
    • Todd JA. Genetic analysis of type 1 diabetes using whole genome approaches. Proc Natl Acad Sci U S A 1995;92:8560-8565
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 8560-8565
    • Todd, J.A.1
  • 35
    • 37549060329 scopus 로고    scopus 로고
    • AIRE recruits P-TEFb for transcriptional elongation of target genes in medullary thymic epithelial cells
    • Oven I, Brdickova N, Kohoutek J, Vaupotic T, Narat M, Peterlin BM. AIRE recruits P-TEFb for transcriptional elongation of target genes in medullary thymic epithelial cells. Mol Cell Biol 2007;27:8815-8823
    • (2007) Mol Cell Biol , vol.27 , pp. 8815-8823
    • Oven, I.1    Brdickova, N.2    Kohoutek, J.3    Vaupotic, T.4    Narat, M.5    Peterlin, B.M.6
  • 37
    • 73149115486 scopus 로고    scopus 로고
    • Aire's partners in the molecular control of immunological tolerance
    • Abramson J, Giraud M, Benoist C, Mathis D. Aire's partners in the molecular control of immunological tolerance. Cell 2010;140:123-135
    • (2010) Cell , vol.140 , pp. 123-135
    • Abramson, J.1    Giraud, M.2    Benoist, C.3    Mathis, D.4
  • 39
    • 56749161528 scopus 로고    scopus 로고
    • Transcriptional regulation by AIRE: Molecular mechanisms of central tolerance
    • Peterson P, Org T, Rebane A. Transcriptional regulation by AIRE: molecular mechanisms of central tolerance. Nature Review-Immunology 2008;8: 948-957
    • (2008) Nature Review-Immunology , vol.8 , pp. 948-957
    • Peterson, P.1    Org, T.2    Rebane, A.3
  • 40
    • 67249146336 scopus 로고    scopus 로고
    • Direct experimental evidence for quadruplex-quadruplex interaction within the human ILPR
    • Schonhoft JD, Bajracharya R, Dhakal S, Yu Z, Mao H, Basu S. Direct experimental evidence for quadruplex-quadruplex interaction within the human ILPR. Nucleic Acid Res 2009;37:3310-3320
    • (2009) Nucleic Acid Res , vol.37 , pp. 3310-3320
    • Schonhoft, J.D.1    Bajracharya, R.2    Dhakal, S.3    Yu, Z.4    Mao, H.5    Basu, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.