Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), al so known as autoimmune polyglandular syndrome Type I (APS1), is an autosoma l 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 A ire has a dual subcellular location and that it is expressed in multiple im munologically relevant tissues such as the thymus, spleen, lymphnodes, and bone marrow. In addition, Aire expression was detected in various other tis sues such as kidney, testis, adrenal glands, liver, and ovary. These findin gs suggest that APECED protein might also have a function(s) outside the im mune system.