AI Article Synopsis
- Defects in the AIRE gene lead to autoimmune polyendocrinopathy syndrome type 1 (APS-1), which causes the immune system to mistakenly attack various organs.
- AIRE is primarily found in medullary thymic epithelial cells (mTECs) and plays a crucial role in immune tolerance.
- The study shows that AIRE mRNA is mainly expressed in mTECs and lymph nodes, and that reduced DNA methylation influences its expression.
Article Abstract
Defects in the autoimmune regulator (AIRE) gene cause the monogenic autoimmune disease autoimmune polyendocrinopathy syndrome type 1 (APS-1), which is characterized by a loss of self-tolerance to multiple organs. In concordance with its role in immune tolerance, AIRE is strongly expressed in medullary thymic epithelial cells (mTECs). Data on mechanisms controlling AIRE activation and the expression of this gene in other tissues are fragmentary and controversial. We report here AIRE mRNA expression profiling of a large set of normal human tissues and cells, tumor specimen and methylation deficient cell lines. On this broad data basis we found that AIRE mRNA expression is confined to mTECs in thymus and to lymph node tissue and that DNA hypomethylation contributes to transcriptional control of this gene.
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| http://dx.doi.org/10.1016/j.imlet.2006.06.006 | DOI Listing |
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