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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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AIRE Protein
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Cell Line, Tumor
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DNA Methylation
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Gene Expression Profiling* / methods
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Gene Expression Regulation, Neoplastic*
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Humans
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Immune Tolerance / genetics
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Lymph Nodes / immunology
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Lymph Nodes / metabolism
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Lymph Nodes / pathology
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Neoplasms / genetics
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Neoplasms / immunology
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Neoplasms / metabolism*
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Neoplasms / pathology
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Polyendocrinopathies, Autoimmune / genetics
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Polyendocrinopathies, Autoimmune / immunology
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Polyendocrinopathies, Autoimmune / metabolism
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Polyendocrinopathies, Autoimmune / pathology
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RNA, Messenger / biosynthesis
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RNA, Messenger / genetics
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RNA, Messenger / immunology
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Reverse Transcriptase Polymerase Chain Reaction
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Thymus Gland / immunology
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Thymus Gland / metabolism
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Thymus Gland / pathology
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Transcription Factors / biosynthesis*
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Transcription Factors / immunology
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Transcription, Genetic / immunology
Substances
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RNA, Messenger
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Transcription Factors