Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).
Sign Up to like & getrecommendations! Published in 2018 at "Journal of autoimmunity"
DOI: 10.1016/j.jaut.2017.10.010
Abstract: A genetic variant in the SAND domain of autoimmune regulator (AIRE), R247C, was identified in a patient with type I diabetes mellitus (T1DM) and his mother with rheumatoid arthritis. In vitro, the variant dominantly inhibited AIRE;… read more here.
Keywords: sand domain; variant; aire; domain autoimmune ... See more keywords
The AIRE G228W mutation disturbs the interaction of AIRE with its partner molecule SIRT1
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.948419
Abstract: The autoimmune regulator (AIRE) protein functions as a tetramer, interacting with partner proteins to form the “AIRE complex,” which relieves RNA Pol II stalling in the chromatin of medullary thymic epithelial cells (mTECs). AIRE is… read more here.
Keywords: sand domain; sirt1; aire; g228w mutation ... See more keywords