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Published on: August 16, 2017
The mouse Aire gene: comparative genomic sequencing, gene organization, and expression
K Blechschmidt1, M Schweiger, K Wertz
1Institute of Molecular Biotechnology, Department of Genome Analysis, D-07745 Jena, Germany.
Genome Research
|February 19, 1999
Summary
The murine Aire gene, a homolog of human AIRE, was cloned and characterized. Its conserved structure and thymus-specific expression suggest a critical role in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy pathogenesis.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- Mutations in the human AIRE gene (hAIRE) cause autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED).
- hAIRE was previously identified as a putative transcription-associated factor.
Purpose of the Study:
- To clone and characterize the murine ortholog of hAIRE, named Aire.
- To investigate the conservation and expression of Aire between mice and humans.
Main Methods:
- Comparative genomic sequencing to analyze gene structure conservation.
- Reverse transcription PCR (RT-PCR) to detect splice variants.
- In situ hybridization to determine tissue-specific expression patterns.
Main Results:
- The murine Aire gene is highly conserved with hAIRE, sharing 73% protein homology and similar functional domains.
- Three splice variant isoforms of Aire were detected in mouse tissues, with one isoform conserved in humans.
- AIRE expression was primarily restricted to specific cells within the thymus in both mouse and human tissues.
Conclusions:
- The high conservation and specific expression pattern of Aire suggest a critical role in immune system regulation.
- Aire's tissue-specific function, particularly in the thymus, is crucial for preventing autoimmune diseases like APECED.
