Chromosomal localization and complete genomic sequence of the murine autoimmune regulator gene (Aire)

Jing Da Shi, Cong Yi Wang, Michele P. Marron, Qing Guo Ruan, Yi Qun Huang, John C. Detter, Jin-Xiong She

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


We have recently cloned the murine autoimmune regulator (Aire) gene, the homologue of human AIRE responsible for the autoimmune polyglandular syndrome type 1 (APS1) or autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). Here, we report the genomic sequence (18413 bp) for the entire Aire gene and its 5′ flanking region, which contains putative regulatory sequences. Comparison of the genomic and cDNA sequences indicates that the Aire gene is composed of 14 exons and the coding sequence shares high similarities between mouse and human. The sizes of the homologous introns in the two species are conserved; however, the introns do not share significant sequence homologies except the sequences near the splice donor and acceptor sites. Sequence analyses of the 5′ regulatory region and the complete coding region in three mouse strains (B6, NOD and SJL) did not reveal any sequence variation, suggesting sequence conservation between different inbred mouse strains. Using one of the six microsatellite markers identified by genomic sequencing and a B6 × Cast backcross mapping panel, we mapped the mouse Aire gene to chromosome 10, a syntenic region containing the Cd18 and Pfkl genes on human chromosome 21q22.

Original languageEnglish (US)
Pages (from-to)47-53
Number of pages7
Issue number1
StatePublished - 1999
Externally publishedYes


  • APS
  • Autoimmunity
  • Gene mapping

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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