Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE auto-regulation [ChIP-Seq]

Using mouse models of several recessive and putative dominant-negative patient mutations we were able to dissect the mechanisms that underlie the recessive and dominant-negative capacities of the corresponding AIRE mutants, including a newly identified dominant-negative variant C446G We also identify an auto-regulatory mechanism by which AIRE negatively modulates its own expression. Overall design: ChIPseq profiles of AIRE binding in sorted mature medullary thymic epithelial cells (mTEChi) from young (4-7 weeks old) Aire +/+, Aire +/C313Y and Aire +/C442G mice generated in the study.