RT Journal
A1 Blechschmidt, Karin
A1 Schweiger, Michal
A1 Wertz, Karin
A1 Poulson, Richard
A1 Christensen, Hoang-My
A1 Rosenthal, Andre
A1 Lehrach, Hans
A1 Yaspo, Marie-Laure
T1 The Mouse Aire Gene: Comparative Genomic Sequencing, Gene Organization, and Expression
JF Genome Research 
JO Genome Research 
YR 1999 
FD February 01 
VO 9 
IS 2 
SP 158 
OP 166 
DO 10.1101/gr.9.2.158 
UL http://genome.cshlp.org/content/9/2/158.abstract 
AB Mutations in the human AIRE gene (hAIRE) result in the development of an autoimmune disease named APECED (autoimmunepolyendocrinopathycandidiasis ectodermaldystrophy; OMIM 240300). Previously, we have cloned hAIRE and shown that it codes for a putative transcription-associated factor. Here we report the cloning and characterization of Aire, the murine ortholog of hAIRE. Comparative genomic sequencing revealed that the structure of the AIRE gene is highly conserved between human and mouse. The conceptual proteins share 73% homology and feature the same typical functional domains in both species. RT–PCR analysis detected three splice variant isoforms in various mouse tissues, and interestingly one isoform was conserved in human, suggesting potential biological relevance of this product. In situ hybridization on mouse and human histological sections showed that AIRE expression pattern was mainly restricted to a few cells in the thymus, calling for a tissue-specific function of the gene product.