Article
Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation.
The Journal of experimental medicine - 1 Nov 2021
Goldfarb Yael, Givony Tal, Kadouri Noam, Dobeš Jan, Peligero-Cruz Cristina, Zalayat Itay, Damari Golda, Dassa Bareket, Ben-Dor Shifra, Gruper Yael, Oftedal Bergithe E, Bratland Eirik, Erichsen Martina M, Berger Amund, Avin Ayelet, Nevo Shir, Haljasorg Uku, Kuperman Yael, Ulman Adi, Haffner-Krausz Rebecca, Porat Ziv, Atasoy Ulus, Leshkowitz Dena, Husebye Eystein S, Abramson Jakub
Abstract excerpt
The autoimmune regulator (AIRE) is essential for the establishment of central tolerance and prevention of autoimmunity. Interestingly, different AIRE mutations cause autoimmunity in either recessive or dominant-negative manners. Using engineered mouse models, we establish that some monoallelic mutants, including C311Y and C446G, cause breakdown of central tolerance. By using RNAseq, ATACseq, ChIPseq, and protein...
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