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Journal of Histochemistry and Cytochemistry, Vol. 49, 197-208, February 2001, Copyright © 2001, The Histochemical Society, Inc.

ARTICLE

Subcellular Location and Expression Pattern of Autoimmune Regulator (Aire), the Mouse Orthologue for Human Gene Defective in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)

Maria Halonena,c, Markku Pelto–Huikkod, Petra Eskelina,c, Leena Peltonena,b, Ismo Ulmanena, and Meelis Kolmera
a Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
b Department of Medical Genetics, University of Helsinki, Helsinki, Finland
c Hospital for Children and Adolescence, Helsinki University Hospital, Helsinki, Finland
d Departments of Developmental Biology and Pathology, Medical School, Tampere University and Tampere University Hospital, Tampere, Finland

Correspondence to: Meelis Kolmer, Dept. of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, FIN-00300 Helsinki, Finland. E-mail: meelis.kolmer@ktl.fi

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome Type I (APS1), is an autosomal recessive autoimmune disease caused by mutations in a gene designated as AIRE (autoimmune regulator). Here we have studied the expression of Aire in transfected cell lines and in adult mouse tissues. Our results show that Aire has a dual subcellular location and that it is expressed in multiple immunologically relevant tissues such as the thymus, spleen, lymph nodes, and bone marrow. In addition, Aire expression was detected in various other tissues such as kidney, testis, adrenal glands, liver, and ovary. These findings suggest that APECED protein might also have a function(s) outside the immune system.

(J Histochem Cytochem 49:197–208, 2001)

Key Words: APECED, APS1, PGA I, AIRE, autoimmunity, gene, expression, disease


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