The Autoimmune Regulator (AIRE) is a human transcription factor expressed at higher level in thymus, pancreas, adrenal cortex, and testis. It is expressed at lower level in the spleen, fetal liver and lymph nodes. It contains zinc finger motifs and isoform 1 is localized to both the nucleus and cytoplasm. Three splice variant mRNAs products have been described. In the thymus it causes transcription of a wide selection of organ-specific genes which create proteins that are usually only expressed in peripheral tissues, creating an "immunological self-shadow" in the thymus. Defects in AIRE are a cause of autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS-1).
Background References
1. "The autoimmune regulator (AIRE) is a DNA-binding protein."Kumar P.G., Laloraya M., Wang C.-Y., Ruan Q.-G., Davoodi-Semiromi A., Kao K.-J., She J.-X.J. Biol. Chem. 276:41357-41364(2001)
2. "A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan."Sato K., Nakajima K., Imamura H., Deguchi T., Horinouchi S., Yamazaki K., Yamada E., Kanaji Y., Takano K.Endocr. J. 49:625-633(2002)
Tissue Specificity
Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal liver and lymph nodes. In secondary lymphoid organs, expressed in a discrete population of bone marrow-derived toleregenic antigen presenting cells (APCs) called extrathymic AIRE expressing cells (eTAC)(at protein level). Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all.
Post-translational Modification
Phosphorylated. Phosphorylation could trigger oligomerization.
Western blot-AIRE antibody A: 293T cell lysate, transfected with human AIRE B: 293T cell lysate, untransfected
Immunohistochemical analysis of paraffin-embedded human thymus tissue with Rabbit anti-Autoimmune regulator (AIRE) antibody (R1107-1) at 1/50 dilution.
The section was pre-treated using heat mediated antigen retrieval with sodium citrate buffer (pH 6.0) (high pressure) for 2 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (R1107-1) at 1/50 dilution for 1 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
Immunohistochemical analysis of paraffin-embedded human testis tissue with Rabbit anti-Autoimmune regulator (AIRE) antibody (R1107-1) at 1/50 dilution.
The section was pre-treated using heat mediated antigen retrieval with sodium citrate buffer (pH 6.0) (high pressure) for 2 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (R1107-1) at 1/50 dilution for 1 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
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