title: Expression profiling of autoimmune regulator AIRE mRNA in a comprehensive set of human normal and neoplastic tissues.
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.
authors.affiliation: Department of Internal Medicine III, Johannes-Gutenberg University Mainz, Obere Zahlbacherstr 63, 55131 Mainz, Germany.
authors.forename: Thorsten
authors.initials: T
authors.lastname: Klamp
authors.forename: Ugur
authors.initials: U
authors.lastname: Sahin
authors.forename: Bruno
authors.initials: B
authors.lastname: Kyewski
authors.forename: Jochen
authors.initials: J
authors.lastname: Schwendemann
authors.forename: Karl
authors.initials: K
authors.lastname: Dhaene
authors.forename: Ozlem
authors.initials: O
authors.lastname: Türeci
mesh_terms: D045744:Cell Line, Tumor; D019175:DNA Methylation; D020869:Gene Expression Profiling / Q000379:methods; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007108:Immune Tolerance / Q000235:genetics; D008198:Lymph Nodes / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D009369:Neoplasms / Q000235:genetics / Q000276:immunology / Q000378:metabolism* / Q000473:pathology; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics / Q000276:immunology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013950:Thymus Gland / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D014157:Transcription Factors / Q000096:biosynthesis* / Q000276:immunology; D014158:Transcription, Genetic / Q000276:immunology; D000096927:AIRE Protein
chemical_list: D012333:RNA, Messenger; D014157:Transcription Factors; D000096927:AIRE Protein