Abstract
Mutations in the putative transcription factor autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrinopathy-candidiosis-ectodermal dystrophy (APECED; OMIM240300), 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.
| Original language | English |
|---|---|
| Pages (from-to) | 1884-1893 |
| Number of pages | 10 |
| Journal | European Journal of Immunology |
| Volume | 30 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - 2000 |
| Externally published | Yes |
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Keywords
- Autoimmunity
- Mouse model
- Thymus epithelial cell
ASJC Scopus subject areas
- Immunology
Cite this
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse. / Heino, Maarit; Peterson, Pärt; Sillanpää, Niko; Guérin, Sandrine; Wu, Li; Anderson, Graham; Scott, Hamish S.; Antonarakis, Stylianos E.; Kudo, Jun; Shimizu, Nobuyoshi; Jenkinson, Eric J.; Naquet, Philippe; Krohn, Kai J E.
In: European Journal of Immunology, Vol. 30, No. 7, 2000, p. 1884-1893.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse
AU - Heino, Maarit
AU - Peterson, Pärt
AU - Sillanpää, Niko
AU - Guérin, Sandrine
AU - Wu, Li
AU - Anderson, Graham
AU - Scott, Hamish S.
AU - Antonarakis, Stylianos E.
AU - Kudo, Jun
AU - Shimizu, Nobuyoshi
AU - Jenkinson, Eric J.
AU - Naquet, Philippe
AU - Krohn, Kai J E
PY - 2000
Y1 - 2000
N2 - Mutations in the putative transcription factor autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrinopathy-candidiosis-ectodermal dystrophy (APECED; OMIM240300), 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.
AB - Mutations in the putative transcription factor autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrinopathy-candidiosis-ectodermal dystrophy (APECED; OMIM240300), 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.
KW - Autoimmunity
KW - Mouse model
KW - Thymus epithelial cell
UR - http://www.scopus.com/inward/record.url?scp=0033939699&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033939699&partnerID=8YFLogxK
U2 - 10.1002/1521-4141(200007)30:7<1884::AID-IMMU1884>3.0.CO;2-P
DO - 10.1002/1521-4141(200007)30:7<1884::AID-IMMU1884>3.0.CO;2-P
M3 - Article
C2 - 10940877
AN - SCOPUS:0033939699
VL - 30
SP - 1884
EP - 1893
JO - European Journal of Immunology
JF - European Journal of Immunology
SN - 0014-2980
IS - 7
ER -