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AIRE  -  autoimmune regulator

Homo sapiens

Synonyms: AIRE1, APECED, APECED protein, APS1, APSI, ...
 
 
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Disease relevance of AIRE

 

Psychiatry related information on AIRE

  • Prostaglandin A1 (PGA1) was infused at the rate of 1/microgram/kg/min in 10 patients with decompensated heart failure under conditions of water loading (5 patients) or water deprivation (5 patients) [6].
 

High impact information on AIRE

  • We have isolated a novel gene from this region, AIRE (autoimmune regulator), which encodes a protein containing motifs suggestive of a transcription factor including two zinc-finger (PHD-finger) motifs, a proline-rich region and three LXXLL motifs [7].
  • Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies [7].
  • Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease characterized by a variable combination of the failure of the endocrine glands [8].
  • Linkage disequilibrium studies have significantly increased the informativeness of the analyses and helped to locate the critical DNA region for the APECED locus to just 500 kilobases, a much more precise definition than linkage analyses alone could achieve [8].
  • Characterization of the molecular and cellular mechanisms involved in APECED, and recognition that AIRE expression is sustained by effective thymopoiesis, has recently allowed to define that the autoimmunity of Omenn syndrome, a combined immunodeficiency due to defects of V(D)J recombination, also results from defective expression of AIRE [9].
 

Chemical compound and disease context of AIRE

 

Biological context of AIRE

  • To address this issue patients with AIH (n = 94), PSC (n = 60), and PBC (n = 30) were analyzed for the presence of mutations in exons 6, 8, and 10 of AIRE by single stranded conformation polymorphism and sequence analysis [1].
  • We suggest that the transcriptional transactivation properties of AIRE together with its interaction with CBP might be important in its function as disease-causing mutations almost totally abolish the activation effect [15].
  • Using a mathematical approach we have re-analyzed an Affymetrix dataset identifying AIRE responsive genes and show that they tend to localize to specific regions of the genome [16].
  • Here we use a transrepression assay to demonstrate that AIRE interacts with multiple components of the transcription complex including a novel interaction with the UBA domain protein, GBDR1 [16].
  • Our results suggest that a Treg cell defect is involved in the pathogenesis of APECED and emphasize the importance of active tolerance mechanisms in preventing human autoimmunity [17].
 

Anatomical context of AIRE

 

Associations of AIRE with chemical compounds

 

Regulatory relationships of AIRE

 

Other interactions of AIRE

 

Analytical, diagnostic and therapeutic context of AIRE

References

  1. Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1. Vogel, A., Liermann, H., Harms, A., Strassburg, C.P., Manns, M.P., Obermayer-Straub, P. Hepatology (2001) [Pubmed]
  2. AIRE deficiency in thymus of 2 patients with Omenn syndrome. Cavadini, P., Vermi, W., Facchetti, F., Fontana, S., Nagafuchi, S., Mazzolari, E., Sediva, A., Marrella, V., Villa, A., Fischer, A., Notarangelo, L.D., Badolato, R. J. Clin. Invest. (2005) [Pubmed]
  3. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Scott, H.S., Heino, M., Peterson, P., Mittaz, L., Lalioti, M.D., Betterle, C., Cohen, A., Seri, M., Lerone, M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., Weetman, A., Papasavvas, M.P., Rossier, C., Nagamine, K., Kudoh, J., Shimizu, N., Krohn, K.J., Antonarakis, S.E. Mol. Endocrinol. (1998) [Pubmed]
  4. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. Halonen, M., Eskelin, P., Myhre, A.G., Perheentupa, J., Husebye, E.S., Kämpe, O., Rorsman, F., Peltonen, L., Ulmanen, I., Partanen, J. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  5. Deficiency of the autoimmune regulator AIRE in thymomas is insufficient to elicit autoimmune polyendocrinopathy syndrome type 1 (APS-1). Ströbel, P., Murumägi, A., Klein, R., Luster, M., Lahti, M., Krohn, K., Schalke, B., Nix, W., Gold, R., Rieckmann, P., Toyka, K., Burek, C., Rosenwald, A., Müller-Hermelink, H., Pujoll-Borrell, R., Meager, A., Willcox, N., Peterson, P., Marx, A. J. Pathol. (2007) [Pubmed]
  6. Effects of prostaglandin A1 on renal handling of salt and water in congestive heart failure. Di Perri, T., Forconi, S., Puccetti, F., Vittoria, A., Guerrini, M. J. Cardiovasc. Pharmacol. (1980) [Pubmed]
  7. Positional cloning of the APECED gene. Nagamine, K., Peterson, P., Scott, H.S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K.J., Lalioti, M.D., Mullis, P.E., Antonarakis, S.E., Kawasaki, K., Asakawa, S., Ito, F., Shimizu, N. Nat. Genet. (1997) [Pubmed]
  8. An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Aaltonen, J., Björses, P., Sandkuijl, L., Perheentupa, J., Peltonen, L. Nat. Genet. (1994) [Pubmed]
  9. Immunodeficiencies with autoimmune consequences. Notarangelo, L.D., Gambineri, E., Badolato, R. Adv. Immunol. (2006) [Pubmed]
  10. Safety concerns about digoxin after acute myocardial infarction. Spargias, K.S., Hall, A.S., Ball, S.G. Lancet (1999) [Pubmed]
  11. ACE inhibition, atherosclerosis and myocardial infarction--the AIRE Study in practice.Acute Infarction Ramipril Efficacy Study. Ball, S.G., Hall, A.S., Murray, G.D. Eur. Heart J. (1994) [Pubmed]
  12. Induction of the heat-shock response by antiviral prostaglandins in human cells infected with human immunodeficiency virus type 1. de Marco, A., Carattoli, A., Rozera, C., Fortini, D., Giorgi, C., Belardo, G., Amici, C., Santoro, M.G. Eur. J. Biochem. (1998) [Pubmed]
  13. Dexamethasone, prostaglandin A, and retinoic acid modulation of murine and human melanoma cells grown in soft agar. Bregman, M.D., Peters, E., Sander, D., Meyskens, F.L. J. Natl. Cancer Inst. (1983) [Pubmed]
  14. Identification of tryptophan hydroxylase as an intestinal autoantigen. Ekwall, O., Hedstrand, H., Grimelius, L., Haavik, J., Perheentupa, J., Gustafsson, J., Husebye, E., Kämpe, O., Rorsman, F. Lancet (1998) [Pubmed]
  15. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. Pitkänen, J., Doucas, V., Sternsdorf, T., Nakajima, T., Aratani, S., Jensen, K., Will, H., Vähämurto, P., Ollila, J., Vihinen, M., Scott, H.S., Antonarakis, S.E., Kudoh, J., Shimizu, N., Krohn, K., Peterson, P. J. Biol. Chem. (2000) [Pubmed]
  16. AIRE recruits multiple transcriptional components to specific genomic regions through tethering to nuclear matrix. Tao, Y., Kupfer, R., Stewart, B.J., Williams-Skipp, C., Crowell, C.K., Patel, D.D., Sain, S., Scheinman, R.I. Mol. Immunol. (2006) [Pubmed]
  17. A defect of regulatory T cells in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Kek??l??inen, E., Tuovinen, H., Joensuu, J., Gylling, M., Franssila, R., P??ntynen, N., Talvensaari, K., Perheentupa, J., Miettinen, A., Arstila, T.P. J. Immunol. (2007) [Pubmed]
  18. Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain. Pitkänen, J., Vähämurto, P., Krohn, K., Peterson, P. J. Biol. Chem. (2001) [Pubmed]
  19. Characterization of regulatory elements and methylation pattern of the autoimmune regulator (AIRE) promoter. Murumägi, A., Vähämurto, P., Peterson, P. J. Biol. Chem. (2003) [Pubmed]
  20. 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. J. Autoimmun. (2005) [Pubmed]
  21. Mitogen-activated protein kinase pathway controls autoimmune regulator (AIRE) gene expression in granulo-monocyte colony stimulating factor (GM-CSF)-stimulated myelomonocytic leukemia OTC-4 cells. Nagafuchi, S., Katsuta, H., Ohno, Y., Inoue, Y., Shimoda, K., Kogawa, K., Ikeda, Y., Koyanagi-Katsuta, R., Yamasaki, S., Tominaga, H., Tamiya, S., Umemura, T., Otsuka, T., Miyamoto, T., Otsuka, T., Harada, M., Kudoh, J., Shimizu, N. Immunol. Lett. (2005) [Pubmed]
  22. Autoimmune regulator: from loss of function to autoimmunity. Pitkänen, J., Peterson, P. Genes Immun. (2003) [Pubmed]
  23. Autoimmunity to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Klemetti, P., Björses, P., Tuomi, T., Perheentupa, J., Partanen, J., Rautonen, N., Hinkkanen, A., Ilonen, J., Vaarala, O. Clin. Exp. Immunol. (2000) [Pubmed]
  24. Genetics of type 1A diabetes. Redondo, M.J., Fain, P.R., Eisenbarth, G.S. Recent Prog. Horm. Res. (2001) [Pubmed]
  25. Cooperative activation of transcription by autoimmune regulator AIRE and CBP. Pitkänen, J., Rebane, A., Rowell, J., Murumägi, A., Ströbel, P., Möll, K., Saare, M., Heikkilä, J., Doucas, V., Marx, A., Peterson, P. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  26. Linkage disequilibrium between HLA class II region and autoimmune hepatitis in pediatric patients. Djilali-Saiah, I., Renous, R., Caillat-Zucman, S., Debray, D., Alvarez, F. J. Hepatol. (2004) [Pubmed]
  27. Transcription factors in autoimmunity. Ramsdell, F., Ziegler, S.F. Curr. Opin. Immunol. (2003) [Pubmed]
  28. Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. Scott, H.S., Kyriakou, D.S., Peterson, P., Heino, M., Tähtinen, M., Krohn, K., Chen, H., Rossier, C., Lalioti, M.D., Antonarakis, S.E. Genomics (1998) [Pubmed]
  29. Expression of AIRE gene in peripheral monocyte/dendritic cell lineage. Kogawa, K., Nagafuchi, S., Katsuta, H., Kudoh, J., Tamiya, S., Sakai, Y., Shimizu, N., Harada, M. Immunol. Lett. (2002) [Pubmed]
  30. Autoimmune regulator induced changes in the gene expression profile of human monocyte-dendritic cell-lineage. Sillanpää, N., Magureanu, C.G., Murumägi, A., Reinikainen, A., West, A., Manninen, A., Lahti, M., Ranki, A., Saksela, K., Krohn, K., Lahesmaa, R., Peterson, P. Mol. Immunol. (2004) [Pubmed]
  31. Human skin cells support thymus-independent T cell development. Clark, R.A., Yamanaka, K., Bai, M., Dowgiert, R., Kupper, T.S. J. Clin. Invest. (2005) [Pubmed]
  32. The mouse Aire gene: comparative genomic sequencing, gene organization, and expression. Blechschmidt, K., Schweiger, M., Wertz, K., Poulson, R., Christensen, H.M., Rosenthal, A., Lehrach, H., Yaspo, M.L. Genome Res. (1999) [Pubmed]
 
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