title: Expression and alternative splicing of the mouse autoimmune regulator gene (Aire).
abstract: AIRE, the gene responsible for the autoimmune polyglandular syndrome type 1 (APS1) or APECED, may act as a transcription factor according to its predicated protein structure. Here we demonstrate the low expression level of the mouse Aire gene as it is undetectable by Northern blot analyses. However, RT-PCR analyses revealed expression of Aire in mouse thymus, ovary, lung, testis, kidney and adrenal gland. Barely detectable level of RT-PCR product was also found in thyroid gland and heart but no amplification was detected in pancreas, spleen and liver. Competitive RT-PCR assays demonstrated highest expression level of Aire mRNA in thymus. In addition to the complete cDNA (Aire or Aire-1a), we identified 11 alternative splicing forms (designated as Aire-1b, Aire-1c, Aire-1d, Aire-2a, Aire-2b, Aire-2c, Aire-2d, Aire-3a, Aire-3b, Aire-3c and Aire-3d). These forms result from combinations of four alternative splicing units (exon 10, exon 11, 12 bp in exon 6 and 3 bp in exon 8). The relative abundance of these splicing forms was also determined.
authors.affiliation: Department of Pathology, Immunology and Laboratory Medicine and Center for Mammalian Genetics, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
authors.forename: Q G
authors.initials: QG
authors.lastname: Ruan
authors.forename: C Y
authors.initials: CY
authors.lastname: Wang
authors.forename: J D
authors.initials: JD
authors.lastname: Shi
authors.forename: J X
authors.initials: JX
authors.lastname: She
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D005091:Exons; D015870:Gene Expression; D051379:Mice; D008810:Mice, Inbred C57BL; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013950:Thymus Gland / Q000378:metabolism; D014018:Tissue Distribution; D014157:Transcription Factors / Q000096:biosynthesis / Q000235:genetics*; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein