Effect of SAND variant in Aire, R249C, on thymus epithelial gene expression.
The novel human AIRE variant, R247C, profoundly impairs transcription of AIRE-target genes, including tissue restricted antigens whose expression is essential for forming T cell central tolerance. The equivalent amino acid was similarly mutated in mice, resulting in Aire R249C mice. Overall design: RNA-seq profiling of thymus epithelial cells (epCAM+, CD45-) from 4 to 8 week old NOD.AireWT/WT, NOD.AireWT/R249C, NOD.AireR249C/R249C.