Table 2.
Coding and non-coding genetic elements that affect AIRE expression or function.
| Gene | Mechanism | Reference |
|---|---|---|
| CNS1 | NF-kB responsive cis-regulatory element required for Aire expression in mTECs | [30,31] |
| JMJD6 | Splicing of intron 2 of Aire, required for mature Aire protein in mTECs | [32] |
| HIPK2 | Affects Aire phosphorylation and suppresses coactivator activity of Aire, modest impairment of Aire-dependent promiscuous gene expression in mTECs in vivo | [33] |
| SIRT1 | Affects Aire acetylation, required for expression of Aire-dependent TSA-encoding genes | [34] |
| DGCR8 | Required for accumulation of Aire+ mTECs in thymus | [35] |
| FBXO3 | Ubiquitinates Aire and promotes transcriptional activity of AIre | [36] |