RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse

Heino, M; Peterson, P; Sillanpaa, N; Guerin, S; Wu, L; Anderson, G; Scott, HS; Antonarakis, SE; Kudoh, J; Shimizu, N; Jenkinson, EJ; Naquet, P; Krohn, KJE

Author(s): Heino, M; Peterson, P; Sillanpaa, N; Guerin, S; Wu, L; Anderson, G; Scott, HS; Antonarakis, SE; Kudoh, J; Shimizu, N; Jenkinson, EJ; Naquet, P; Krohn, KJE;
Details: Publication Year 2000-07,Volume 30,Issue #7,Page 1884-1893
Journal Title: EUROPEAN JOURNAL OF IMMUNOLOGY
Publication Type: Journal Article
Abstract: Mutations in the putative transcription factor autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrinopathy-candidiosis-ectodermal dystrophy (APECED; OMIM#240300), a monogenic recessively inherited disease characterized by destructive autoimmune diseases of the endocrine organs, chronic candidiosis of mucous membranes and ectodermal dystrophies. In this study the expression of murine homolog for AIRE protein, Aire, was detected in a fraction of thymic medullary epithelial cells. Subcellularly, in thymus the protein appears as concentrated into nuclear dot-like structures, whereas in transfected cells the protein is also bound along a cytosolic fibrillar network. By RT-PCR Aire mRNA was detected in thymus, lymph node, spleen and testis although the second round PCR amplified Aire specific band from most mouse tissues analyzed. Furthermore, the Aire mRNA was detected in dendritic cell (DC) populations isolated from thymus and spleen, representing both myeloid- and lymphoid-related lineages of DC. We also demonstrate that the Aire protein is absent in the thymus of RelB-deficient mouse and in NOD thymus most of the Aire positive cells showed an abnormal morphology. These results suggest that the Aire protein is associated with the normal development and/or action of a subset of thymic medullary stromal cells involved in tolerance induction.
Publisher: WILEY-V C H VERLAG GMBH
Keywords: THYMIC MEDULLARY EPITHELIUM; ATHYMIC NUDE-MICE; DENDRITIC CELLS; T-CELLS; POSITIVE SELECTION; STROMAL CELLS; IN-VITRO; DELETION; THYMOCYTES; TOLERANCE
Publisher's Version: https://doi.org/10.1002/1521-4141(200007)30:7<1884::AID-IMMU1884>3.0.CO;2-P
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Creation Date: 2000-07-01 12:00:00