A comparative study of mRNA and protein expression of the autoimmune regulator gene (Aire) in embryonic and adult murine tissues

KA Adamson, SHS Pearce, JR Lamb… - The Journal of …, 2004 - Wiley Online Library
KA Adamson, SHS Pearce, JR Lamb, JR Seckl, SEM Howie
The Journal of Pathology: A Journal of the Pathological Society of …, 2004Wiley Online Library
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive human
disorder caused by mutations in the autoimmune regulator gene (AIRE) and characterized
by multiple autoimmune diseases. As reports of the tissue expression pattern of the murine
Aire gene are discordant, a comprehensive survey of Aire expression was undertaken in
adult and embryonic tissues at the mRNA and protein levels using real‐time RT‐PCR, in situ
hybridization, and immunohistochemistry. In the adult, the highest Aire mRNA expression …
Abstract
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive human disorder caused by mutations in the autoimmune regulator gene (AIRE) and characterized by multiple autoimmune diseases. As reports of the tissue expression pattern of the murine Aire gene are discordant, a comprehensive survey of Aire expression was undertaken in adult and embryonic tissues at the mRNA and protein levels using real‐time RT‐PCR, in situ hybridization, and immunohistochemistry. In the adult, the highest Aire mRNA expression was in the thymus. All the other tissues investigated expressed Aire mRNA at low levels, but it was barely detectable in the adrenal gland. Aire protein expression was observed in the thymus, spleen, and lymph nodes. A common pattern was observed in other tissues, with staining in epithelial cells. An exception to this was the gut, where staining was seen in the mucin spaces. In embryonic tissue, Aire mRNA and protein expression was detected from E14.5 in the thymus. In the fetal liver, unlike the adult, staining was observed at E14.5 and decreased towards term. Thus, Aire is expressed in immunologically relevant tissues and in a restricted number of extra‐immunological tissues in the adult. Furthermore, the presence of Aire protein is reported in extra‐thymic tissues of the embryo. Copyright © 2004 John Wiley & Sons, Ltd.
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