메뉴 건너뛰기




Volumn 27, Issue 2, 2006, Pages 105-109

Functional evaluation of the autoimmunity-associated CTLA4 gene: The effect of the (AT) repeat in the 3′untranslated region (UTR)

Author keywords

+49A G; +6230G A; CTLA4; Genetics of diabetes; Microsatellite repeat; Regulatory polymorphism; Type 1 diabetes

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; DACTINOMYCIN; DNA; MESSENGER RNA;

EID: 33749529898     PISSN: 08968411     EISSN: 10959157     Source Type: Journal    
DOI: 10.1016/j.jaut.2006.06.004     Document Type: Article
Times cited : (18)

References (19)
  • 1
    • 8944259914 scopus 로고    scopus 로고
    • The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry
    • Nistico L., Buzzetti R., Pritchard L.E., Van der Auwera B., Giovannini C., Bosi E., et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum Mol Genet 5 (1996) 1075-1080
    • (1996) Hum Mol Genet , vol.5 , pp. 1075-1080
    • Nistico, L.1    Buzzetti, R.2    Pritchard, L.E.3    Van der Auwera, B.4    Giovannini, C.5    Bosi, E.6
  • 2
    • 8544274482 scopus 로고    scopus 로고
    • Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups
    • Marron M.P., Raffel L.J., Garchon H.J., Jacob C.O., Serrano-Rios M., Martinez Larrad M.T., et al. Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. Hum Mol Genet 6 (1997) 1275-1282
    • (1997) Hum Mol Genet , vol.6 , pp. 1275-1282
    • Marron, M.P.1    Raffel, L.J.2    Garchon, H.J.3    Jacob, C.O.4    Serrano-Rios, M.5    Martinez Larrad, M.T.6
  • 3
    • 9844263372 scopus 로고    scopus 로고
    • CTLA-4 gene polymorphism confers susceptibility to insulin-dependent diabetes mellitus (IDDM) independently from age and from other genetic or immune disease markers. The Belgian Diabetes Registry
    • Van der Auwera B.J., Vandewalle C.L., Schuit F.C., Winnock F., De Leeuw I.H., Van Imschoot S., et al. CTLA-4 gene polymorphism confers susceptibility to insulin-dependent diabetes mellitus (IDDM) independently from age and from other genetic or immune disease markers. The Belgian Diabetes Registry. Clin Exp Immunol 110 (1997) 98-103
    • (1997) Clin Exp Immunol , vol.110 , pp. 98-103
    • Van der Auwera, B.J.1    Vandewalle, C.L.2    Schuit, F.C.3    Winnock, F.4    De Leeuw, I.H.5    Van Imschoot, S.6
  • 4
    • 0037648405 scopus 로고    scopus 로고
    • Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
    • Ueda H., Howson J.M., Esposito L., Heward J., Snook H., Chamberlain G., et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423 (2003) 506-511
    • (2003) Nature , vol.423 , pp. 506-511
    • Ueda, H.1    Howson, J.M.2    Esposito, L.3    Heward, J.4    Snook, H.5    Chamberlain, G.6
  • 5
    • 0034049641 scopus 로고    scopus 로고
    • Genetic and physical mapping of a type 1 diabetes susceptibility gene (IDDM12) to a 100-kb phagemid artificial chromosome clone containing D2S72-CTLA4-D2S105 on chromosome 2q33
    • Marron M.P., Zeidler A., Raffel L.J., Eckenrode S.E., Yang J.J., Hopkins D.I., et al. Genetic and physical mapping of a type 1 diabetes susceptibility gene (IDDM12) to a 100-kb phagemid artificial chromosome clone containing D2S72-CTLA4-D2S105 on chromosome 2q33. Diabetes 49 (2000) 492-499
    • (2000) Diabetes , vol.49 , pp. 492-499
    • Marron, M.P.1    Zeidler, A.2    Raffel, L.J.3    Eckenrode, S.E.4    Yang, J.J.5    Hopkins, D.I.6
  • 6
    • 21344461495 scopus 로고    scopus 로고
    • Allelic effects on gene regulation at the autoimmunity-predisposing CTLA4 locus: a re-evaluation of the 3′+6230G>A polymorphism
    • Anjos S.M., Shao W., Marchand L., and Polychronakos C. Allelic effects on gene regulation at the autoimmunity-predisposing CTLA4 locus: a re-evaluation of the 3′+6230G>A polymorphism. Genes Immun 6 (2005) 305-311
    • (2005) Genes Immun , vol.6 , pp. 305-311
    • Anjos, S.M.1    Shao, W.2    Marchand, L.3    Polychronakos, C.4
  • 7
    • 2242465734 scopus 로고    scopus 로고
    • A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele
    • Anjos S., Nguyen A., Ounissi-Benkalha H., Tessier M.C., and Polychronakos C. A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele. J Biol Chem 277 (2002) 46478-46486
    • (2002) J Biol Chem , vol.277 , pp. 46478-46486
    • Anjos, S.1    Nguyen, A.2    Ounissi-Benkalha, H.3    Tessier, M.C.4    Polychronakos, C.5
  • 8
    • 0034548720 scopus 로고    scopus 로고
    • CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease
    • Kouki T., Sawai Y., Gardine C.A., Fisfalen M.E., Alegre M.L., and DeGroot L.J. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease. J Immunol 165 (2000) 6606-6611
    • (2000) J Immunol , vol.165 , pp. 6606-6611
    • Kouki, T.1    Sawai, Y.2    Gardine, C.A.3    Fisfalen, M.E.4    Alegre, M.L.5    DeGroot, L.J.6
  • 9
    • 0036256007 scopus 로고    scopus 로고
    • A polymorphism in the human cytotoxic T-lymphocyte antigen 4 (CTLA4) gene (exon 1 + 49) alters T-cell activation
    • Maurer M., Loserth S., Kolb-Maurer A., Ponath A., Wiese S., Kruse N., et al. A polymorphism in the human cytotoxic T-lymphocyte antigen 4 (CTLA4) gene (exon 1 + 49) alters T-cell activation. Immunogenetics 54 (2002) 1-8
    • (2002) Immunogenetics , vol.54 , pp. 1-8
    • Maurer, M.1    Loserth, S.2    Kolb-Maurer, A.3    Ponath, A.4    Wiese, S.5    Kruse, N.6
  • 10
    • 10344224011 scopus 로고    scopus 로고
    • Association of the cytotoxic T lymphocyte-associated antigen 4 gene with type 1 diabetes: evidence for independent effects of two polymorphisms on the same haplotype block
    • Anjos S.M., Tessier M.C., and Polychronakos C. Association of the cytotoxic T lymphocyte-associated antigen 4 gene with type 1 diabetes: evidence for independent effects of two polymorphisms on the same haplotype block. J Clin Endocrinol Metab 89 (2004) 6257-6265
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 6257-6265
    • Anjos, S.M.1    Tessier, M.C.2    Polychronakos, C.3
  • 12
  • 13
    • 0034807352 scopus 로고    scopus 로고
    • Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population
    • Ihara K., Ahmed S., Nakao F., Kinukawa N., Kuromaru R., Matsuura N., et al. Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population. Immunogenetics 53 (2001) 447-451
    • (2001) Immunogenetics , vol.53 , pp. 447-451
    • Ihara, K.1    Ahmed, S.2    Nakao, F.3    Kinukawa, N.4    Kuromaru, R.5    Matsuura, N.6
  • 14
    • 0036615259 scopus 로고    scopus 로고
    • A CTLA-4 gene polymorphism at position -318 in the promoter region affects the expression of protein
    • Wang X.B., Zhao X., Giscombe R., and Lefvert A.K. A CTLA-4 gene polymorphism at position -318 in the promoter region affects the expression of protein. Genes Immun 3 (2002) 233-234
    • (2002) Genes Immun , vol.3 , pp. 233-234
    • Wang, X.B.1    Zhao, X.2    Giscombe, R.3    Lefvert, A.K.4
  • 15
    • 0031769359 scopus 로고    scopus 로고
    • A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients
    • Kemp E.H., Ajjan R.A., Husebye E.S., Peterson P., Uibo R., Imrie H., et al. A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients. Clin Endocrinol (Oxf) 49 (1998) 609-613
    • (1998) Clin Endocrinol (Oxf) , vol.49 , pp. 609-613
    • Kemp, E.H.1    Ajjan, R.A.2    Husebye, E.S.3    Peterson, P.4    Uibo, R.5    Imrie, H.6
  • 16
    • 0038185346 scopus 로고    scopus 로고
    • Post-transcriptional regulation of gene expression by degradation of messenger RNAs
    • Bevilacqua A., Ceriani M.C., Capaccioli S., and Nicolin A. Post-transcriptional regulation of gene expression by degradation of messenger RNAs. J Cell Physiol 195 (2003) 356-372
    • (2003) J Cell Physiol , vol.195 , pp. 356-372
    • Bevilacqua, A.1    Ceriani, M.C.2    Capaccioli, S.3    Nicolin, A.4
  • 17
    • 0035451084 scopus 로고    scopus 로고
    • Technical note: linkage disequilibrium and disease-associated CTLA4 gene polymorphisms
    • Holopainen P.M., and Partanen J.A. Technical note: linkage disequilibrium and disease-associated CTLA4 gene polymorphisms. J Immunol 167 (2001) 2457-2458
    • (2001) J Immunol , vol.167 , pp. 2457-2458
    • Holopainen, P.M.1    Partanen, J.A.2
  • 18
    • 0036710498 scopus 로고    scopus 로고
    • Abnormal expression of CTLA-4 by T cells from patients with myasthenia gravis: effect of an AT-rich gene sequence
    • Wang X.B., Kakoulidou M., Giscombe R., Qiu Q., Huang D., Pirskanen R., et al. Abnormal expression of CTLA-4 by T cells from patients with myasthenia gravis: effect of an AT-rich gene sequence. J Neuroimmunol 130 (2002) 224-232
    • (2002) J Neuroimmunol , vol.130 , pp. 224-232
    • Wang, X.B.1    Kakoulidou, M.2    Giscombe, R.3    Qiu, Q.4    Huang, D.5    Pirskanen, R.6
  • 19
    • 7444235907 scopus 로고    scopus 로고
    • Cis-acting regulatory variation in the human genome
    • Pastinen T., and Hudson T.J. Cis-acting regulatory variation in the human genome. Science 306 (2004) 647-650
    • (2004) Science , vol.306 , pp. 647-650
    • Pastinen, T.1    Hudson, T.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.