메뉴 건너뛰기




Volumn 182, Issue 6, 2009, Pages 3902-3918

Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype

(16)  Hubert, François Xavier a   Kinkel, Sarah A a,b   Crewther, Pauline E a   Cannon, Ping Z F a   Webster, Kylie E a,g   Link, Maire c   Uibo, Raivo c   O'Bryan, Moira K d   Meager, Anthony e   Forehan, Simon P a   Smyth, Gordon K a   Mittaz, Lauréane f,h   Antonarakis, Stylianos E f   Peterson, Pärt c   Heath, William R a,b   Scott, Hamish S a,b,i,j  


Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; AUTOIMMUNE REGULATOR PROTEIN; TRANSCRIPTION FACTOR;

EID: 65449133931     PISSN: 00221767     EISSN: 15506606     Source Type: Journal    
DOI: 10.4049/jimmunol.0802124     Document Type: Article
Times cited : (114)

References (69)
  • 1
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
    • Ahonen, P., S. Myllarniemi, I. Sipila, and J. Perheentupa. 1990. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N. Engl. J. Med. 322: 1829 -1836.
    • (1990) N. Engl. J. Med , vol.322 , pp. 1829-1836
    • Ahonen, P.1    Myllarniemi, S.2    Sipila, I.3    Perheentupa, J.4
  • 11
    • 0035147378 scopus 로고    scopus 로고
    • Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
    • Halonen, M., M. Pelto-Huikko, P. Eskelin, L. Peltonen, I. Ulmanen, and M. Kolmer. 2001. Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). J. Histochem. Cytochem. 49: 197-208.
    • (2001) J. Histochem. Cytochem , vol.49 , pp. 197-208
    • Halonen, M.1    Pelto-Huikko, M.2    Eskelin, P.3    Peltonen, L.4    Ulmanen, I.5    Kolmer, M.6
  • 14
    • 44849114330 scopus 로고    scopus 로고
    • A specific anti-Aire antibody reveals Aire expression is restricted to medullary thymic epithelial cells and not expressed in periphery
    • Hubert, F. X., S. A. Kinkel, K. E. Webster, P. Cannon, P. E. Crewther, A. I. Proeitto, L. Wu, W. R. Heath, and H. S. Scott. 2008. A specific anti-Aire antibody reveals Aire expression is restricted to medullary thymic epithelial cells and not expressed in periphery. J. Immunol. 180: 3824-3832.
    • (2008) J. Immunol , vol.180 , pp. 3824-3832
    • Hubert, F.X.1    Kinkel, S.A.2    Webster, K.E.3    Cannon, P.4    Crewther, P.E.5    Proeitto, A.I.6    Wu, L.7    Heath, W.R.8    Scott, H.S.9
  • 15
    • 0038824426 scopus 로고    scopus 로고
    • The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein
    • Pitkanen, J., V. Doucas, T. Sternsdorf, T. Nakajima, S. Aratani, K. Jensen, H. Will, P. Vahamurto, J. Ollila, M. Vihinen, et al. 2000. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J. Biol. Chem. 275: 16802-16809.
    • (2000) J. Biol. Chem , vol.275 , pp. 16802-16809
    • Pitkanen, J.1    Doucas, V.2    Sternsdorf, T.3    Nakajima, T.4    Aratani, S.5    Jensen, K.6    Will, H.7    Vahamurto, P.8    Ollila, J.9    Vihinen, M.10
  • 17
    • 45849137524 scopus 로고    scopus 로고
    • Org, T., F. Chignola, C. Hetenyi, M. Gaetani, A. Rebane, I. Liiv, U. Maran, L. Mollica, M. J. Bottomley, G. Musco, and P. Peterson. 2008. The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression. EMBO Rep. 9: 370-376.
    • Org, T., F. Chignola, C. Hetenyi, M. Gaetani, A. Rebane, I. Liiv, U. Maran, L. Mollica, M. J. Bottomley, G. Musco, and P. Peterson. 2008. The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression. EMBO Rep. 9: 370-376.
  • 20
    • 25144432460 scopus 로고    scopus 로고
    • Modifier loci condition autoimmunity provoked by Aire deficiency
    • Jiang, W., M. S. Anderson, R. Bronson, D. Mathis, and C. Benoist. 2005. Modifier loci condition autoimmunity provoked by Aire deficiency. J. Exp. Med. 202: 805-815.
    • (2005) J. Exp. Med , vol.202 , pp. 805-815
    • Jiang, W.1    Anderson, M.S.2    Bronson, R.3    Mathis, D.4    Benoist, C.5
  • 27
    • 0032924111 scopus 로고    scopus 로고
    • AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: Altered sub-cellular distribution of mutants lacking the PHD zinc fingers
    • Rinderle, C., H. M. Christensen, S. Schweiger, H. Lehrach, and M. L. Yaspo. 1999. AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers. Hum. Mol. Genet. 8: 277-290.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 277-290
    • Rinderle, C.1    Christensen, H.M.2    Schweiger, S.3    Lehrach, H.4    Yaspo, M.L.5
  • 28
    • 0242536432 scopus 로고    scopus 로고
    • Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein
    • Bjorses, P., M. Halonen, J. J. Palvimo, M. Kolmer, J. Aaltonen, P. Ellonen, J. Perheentupa, I. Ulmanen, and L. Peltonen. 2000. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am. J. Hum. Genet. 66: 378-392.
    • (2000) Am. J. Hum. Genet , vol.66 , pp. 378-392
    • Bjorses, P.1    Halonen, M.2    Palvimo, J.J.3    Kolmer, M.4    Aaltonen, J.5    Ellonen, P.6    Perheentupa, J.7    Ulmanen, I.8    Peltonen, L.9
  • 29
    • 0037115481 scopus 로고    scopus 로고
    • Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting
    • Ramsey, C., A. Bukrinsky, and L. Peltonen. 2002. Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting. Hum. Mol. Genet. 11: 3299-3308.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 3299-3308
    • Ramsey, C.1    Bukrinsky, A.2    Peltonen, L.3
  • 30
    • 0036470005 scopus 로고    scopus 로고
    • Analysis of thymic stromal cell populations using flow cytometry
    • Gray, D. H., A. P. Chidgey, and R. L. Boyd. 2002. Analysis of thymic stromal cell populations using flow cytometry. J. Immunol. Methods 260: 15-28.
    • (2002) J. Immunol. Methods , vol.260 , pp. 15-28
    • Gray, D.H.1    Chidgey, A.P.2    Boyd, R.L.3
  • 31
    • 0027251463 scopus 로고
    • The sizes of the CDR3 hypervariable regions of the murine T-cell receptor beta chains vary as a function of the recombined germ-line segments
    • Pannetier, C., M. Cochet, S. Darche, A. Casrouge, M. Zoller, and P. Kourilsky. 1993. The sizes of the CDR3 hypervariable regions of the murine T-cell receptor beta chains vary as a function of the recombined germ-line segments. Proc. Natl. Acad. Sci. USA 90: 4319-4323.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 4319-4323
    • Pannetier, C.1    Cochet, M.2    Darche, S.3    Casrouge, A.4    Zoller, M.5    Kourilsky, P.6
  • 32
    • 0034652317 scopus 로고    scopus 로고
    • Early expression of antiinsulin autoantibodies of humans and the NOD mouse: Evidence for early determination of subsequent diabetes
    • Yu, L., D. T. Robles, N. Abiru, P. Kaur, M. Rewers, K. Kelemen, and G. S. Eisenbarth. 2000. Early expression of antiinsulin autoantibodies of humans and the NOD mouse: evidence for early determination of subsequent diabetes. Proc. Natl. Acad. Sci. USA 97: 1701-1706.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 1701-1706
    • Yu, L.1    Robles, D.T.2    Abiru, N.3    Kaur, P.4    Rewers, M.5    Kelemen, K.6    Eisenbarth, G.S.7
  • 33
    • 0036498813 scopus 로고    scopus 로고
    • Biological assays for interferons
    • Meager, A. 2002. Biological assays for interferons. J. Immunol. Methods 261: 21-36.
    • (2002) J. Immunol. Methods , vol.261 , pp. 21-36
    • Meager, A.1
  • 34
    • 0019282140 scopus 로고
    • An analysis of neutralization reaction of interferon by anti-body: A proposal on the expression of neutralization titer
    • Kawade, Y. 1980. An analysis of neutralization reaction of interferon by anti-body: a proposal on the expression of neutralization titer. J. Interferon Res. 1: 61-70.
    • (1980) J. Interferon Res , vol.1 , pp. 61-70
    • Kawade, Y.1
  • 37
    • 4544341015 scopus 로고    scopus 로고
    • Smyth, G. K. 2004. Linear models and empirical Bayes methods for assessing differential expression in microarray experiments. Stat. Appl. Genet. Mol. Biol. 3: article 3.
    • Smyth, G. K. 2004. Linear models and empirical Bayes methods for assessing differential expression in microarray experiments. Stat. Appl. Genet. Mol. Biol. 3: article 3.
  • 38
    • 33751223190 scopus 로고    scopus 로고
    • Complex expression patterns support potential roles for maternally derived activins in the establishment of pregnancy in mouse
    • Jones, R. L., T. J. Kaitu'u-Lino, G. Nie, L. G. Sanchez-Partida, J. K. Findlay, and L. A. Salamonsen. 2006. Complex expression patterns support potential roles for maternally derived activins in the establishment of pregnancy in mouse. Reproduction 132: 799-810.
    • (2006) Reproduction , vol.132 , pp. 799-810
    • Jones, R.L.1    Kaitu'u-Lino, T.J.2    Nie, G.3    Sanchez-Partida, L.G.4    Findlay, J.K.5    Salamonsen, L.A.6
  • 41
    • 33847350111 scopus 로고    scopus 로고
    • Aire-dependent alterations in medullary thymic epithelium indicate a role for Aire in thymic epithelial differentiation
    • Gillard, G. O., J. Dooley, M. Erickson, L. Peltonen, and A. G. Farr. 2007. Aire-dependent alterations in medullary thymic epithelium indicate a role for Aire in thymic epithelial differentiation. J. Immunol. 178: 3007-3015.
    • (2007) J. Immunol , vol.178 , pp. 3007-3015
    • Gillard, G.O.1    Dooley, J.2    Erickson, M.3    Peltonen, L.4    Farr, A.G.5
  • 42
    • 28444438159 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: New views on molecular basis of autoimmunity
    • Peterson, P., and L. Peltonen. 2005. Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity. J. Autoimmun. 25(Suppl.): 49-55.
    • (2005) J. Autoimmun , vol.25 , Issue.SUPPL. , pp. 49-55
    • Peterson, P.1    Peltonen, L.2
  • 45
    • 34248372524 scopus 로고    scopus 로고
    • Loss of Aire-dependent thymic expression of a peripheral tissue antigen renders it a target of autoimmunity
    • Gavanescu, I., B. Kessler, H. Ploegh, C. Benoist, and D. Mathis. 2007. Loss of Aire-dependent thymic expression of a peripheral tissue antigen renders it a target of autoimmunity. Proc. Natl. Acad. Sci. USA 104: 4583-4587.
    • (2007) Proc. Natl. Acad. Sci. USA , vol.104 , pp. 4583-4587
    • Gavanescu, I.1    Kessler, B.2    Ploegh, H.3    Benoist, C.4    Mathis, D.5
  • 47
    • 0018369765 scopus 로고
    • Salivary secretion of inorganic electrolytes
    • Young, J. A. 1979. Salivary secretion of inorganic electrolytes. Int. Rev. Physiol. 19: 1-58.
    • (1979) Int. Rev. Physiol , vol.19 , pp. 1-58
    • Young, J.A.1
  • 48
    • 0024215340 scopus 로고
    • Sjögren syndrome and pseudolymphoma
    • Talal, N. 1988. Sjögren syndrome and pseudolymphoma. Hosp. Pract. 23: 71-75.
    • (1988) Hosp. Pract , vol.23 , pp. 71-75
    • Talal, N.1
  • 50
    • 54049121774 scopus 로고    scopus 로고
    • Alterations of the medullary epithelial compartment in the Aire-deficient thymus: Implications for programs of thymic epithelial differentiation
    • Dooley, J., M. Erickson, and A. G. Farr. 2008. Alterations of the medullary epithelial compartment in the Aire-deficient thymus: implications for programs of thymic epithelial differentiation. J. Immunol. 181: 5225-5232.
    • (2008) J. Immunol , vol.181 , pp. 5225-5232
    • Dooley, J.1    Erickson, M.2    Farr, A.G.3
  • 51
    • 0029091902 scopus 로고
    • Targeted deletion of 5′HS2 of the murine beta-globin LCR reveals that it is not essential for proper regulation of the beta-globin locus
    • Fiering, S., E. Epner, K. Robinson, Y. Zhuang, A. Telling, M. Hu, D. I. Martin, T. Enver, T. J. Ley, and M. Groudine. 1995. Targeted deletion of 5′HS2 of the murine beta-globin LCR reveals that it is not essential for proper regulation of the beta-globin locus. Genes Dev. 9: 2203-2213.
    • (1995) Genes Dev , vol.9 , pp. 2203-2213
    • Fiering, S.1    Epner, E.2    Robinson, K.3    Zhuang, Y.4    Telling, A.5    Hu, M.6    Martin, D.I.7    Enver, T.8    Ley, T.J.9    Groudine, M.10
  • 52
    • 0029954767 scopus 로고    scopus 로고
    • Analysis of mice containing a targeted deletion of beta-globin locus control region 5′ hypersensitive site 3
    • Hug, B. A., R. L. Wesselschmidt, S. Fiering, M. A. Bender, E. Epner, M. Groudine, and T. J. Ley. 1996. Analysis of mice containing a targeted deletion of beta-globin locus control region 5′ hypersensitive site 3. Mol. Cell. Biol. 16: 2906-2912.
    • (1996) Mol. Cell. Biol , vol.16 , pp. 2906-2912
    • Hug, B.A.1    Wesselschmidt, R.L.2    Fiering, S.3    Bender, M.A.4    Epner, E.5    Groudine, M.6    Ley, T.J.7
  • 53
  • 54
    • 0030786622 scopus 로고    scopus 로고
    • Mouse ζ- and α-globin genes: Embryonic survival, α-thalassemia, and genetic background effects
    • Leder, A., C. Daugherty, B. Whitney, and P. Leder. 1997. Mouse ζ- and α-globin genes: embryonic survival, α-thalassemia, and genetic background effects. Blood 90: 1275-1282.
    • (1997) Blood , vol.90 , pp. 1275-1282
    • Leder, A.1    Daugherty, C.2    Whitney, B.3    Leder, P.4
  • 56
    • 0036841877 scopus 로고    scopus 로고
    • Targeted insertion results in a rhombomere 2-specific Hoxa2 knockdown and ectopic activation of Hoxa1 expression
    • Ren, S. Y., P. O. Angrand, and F. M. Rijli. 2002. Targeted insertion results in a rhombomere 2-specific Hoxa2 knockdown and ectopic activation of Hoxa1 expression. Dev. Dyn. 225: 305-315.
    • (2002) Dev. Dyn , vol.225 , pp. 305-315
    • Ren, S.Y.1    Angrand, P.O.2    Rijli, F.M.3
  • 57
    • 0041569922 scopus 로고    scopus 로고
    • A retained selection cassette increases reporter gene expression without affecting tissue distribution in SPI3 knockout/GFP knock-in mice
    • Scarff, K. L., K. S. Ung, J. Sun, and P. I. Bird. 2003. A retained selection cassette increases reporter gene expression without affecting tissue distribution in SPI3 knockout/GFP knock-in mice. Genesis 36: 149-157.
    • (2003) Genesis , vol.36 , pp. 149-157
    • Scarff, K.L.1    Ung, K.S.2    Sun, J.3    Bird, P.I.4
  • 58
    • 33748748300 scopus 로고    scopus 로고
    • Immunophysiology of the male reproductive tract
    • 3rd Ed. J. Neill and P. Wassarman, eds. Academic, San Diego, pp
    • Hedger M. P., and D. B. Hales. 2005. Immunophysiology of the male reproductive tract. In Knobil and Neill's Physiology of Reproduction, 3rd Ed. J. Neill and P. Wassarman, eds. Academic, San Diego, pp. 1195-1250.
    • (2005) Knobil and Neill's Physiology of Reproduction , pp. 1195-1250
    • Hedger, M.P.1    Hales, D.B.2
  • 60
    • 0026055914 scopus 로고
    • Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism
    • Andersson, S., D. M. Berman, E. P. Jenkins, and D. W. Russell. 1991. Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism. Nature 354: 159-161.
    • (1991) Nature , vol.354 , pp. 159-161
    • Andersson, S.1    Berman, D.M.2    Jenkins, E.P.3    Russell, D.W.4
  • 64
    • 35748941369 scopus 로고    scopus 로고
    • Proliferative arrest and rapid turnover of thymic epithelial cells expressing Aire
    • Gray, D., J. Abramson, C. Benoist, and D. Mathis. 2007. Proliferative arrest and rapid turnover of thymic epithelial cells expressing Aire. J. Exp. Med. 204: 2521-2528.
    • (2007) J. Exp. Med , vol.204 , pp. 2521-2528
    • Gray, D.1    Abramson, J.2    Benoist, C.3    Mathis, D.4
  • 65
    • 34147128054 scopus 로고    scopus 로고
    • Highly variable expression of tissue-restricted self-antigens in human thymus: Implications for selftolerance and autoimmunity
    • Taubert, R., J. Schwendemann, and B. Kyewski. 2007. Highly variable expression of tissue-restricted self-antigens in human thymus: implications for selftolerance and autoimmunity. Eur. J. Immunol. 37: 838-848.
    • (2007) Eur. J. Immunol , vol.37 , pp. 838-848
    • Taubert, R.1    Schwendemann, J.2    Kyewski, B.3
  • 66
    • 27844563909 scopus 로고    scopus 로고
    • Insulin alleles and autoimmune regulator (AIRE) gene expression both influence insulin expression in the thymus
    • Sabater, L., X. Ferrer-Francesch, M. Sospedra, P. Caro, M. Juan, and R. Pujol-Borrell. 2005. Insulin alleles and autoimmune regulator (AIRE) gene expression both influence insulin expression in the thymus. J. Autoimmun. 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
  • 67
    • 34548100837 scopus 로고    scopus 로고
    • Gene regulation: Stochastic and deterministic effects in gene regulation
    • Edwards, J. R., and T. H. Bestor. 2007. Gene regulation: stochastic and deterministic effects in gene regulation. Heredity 99: 243-244.
    • (2007) Heredity , vol.99 , pp. 243-244
    • Edwards, J.R.1    Bestor, T.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.