[HTML][HTML] Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire

MA Su, K Giang, K Žumer, H Jiang… - The Journal of …, 2008 - Am Soc Clin Investig
MA Su, K Giang, K Žumer, H Jiang, I Oven, JL Rinn, JJ DeVoss, KPA Johannes, W Lu…
The Journal of clinical investigation, 2008Am Soc Clin Investig
Homozygous loss-of-function mutations in AIRE cause autoimmune polyglandular syndrome
type 1 (APS 1), which manifests in a classic triad of hypoparathyroidism, adrenal
insufficiency, and candidiasis. Interestingly, a kindred with a specific G228W AIRE variant
presented with an autosomal dominant autoimmune phenotype distinct from APS 1. We
utilized a novel G228W-knockin mouse model to show that this variant acted in a dominant-
negative manner to cause a unique autoimmunity syndrome. In addition, the expression of a …
Homozygous loss-of-function mutations in AIRE cause autoimmune polyglandular syndrome type 1 (APS 1), which manifests in a classic triad of hypoparathyroidism, adrenal insufficiency, and candidiasis. Interestingly, a kindred with a specific G228W AIRE variant presented with an autosomal dominant autoimmune phenotype distinct from APS 1. We utilized a novel G228W-knockin mouse model to show that this variant acted in a dominant-negative manner to cause a unique autoimmunity syndrome. In addition, the expression of a large number of Aire-regulated thymic antigens was partially inhibited in these animals, demonstrating the importance of quantitative changes in thymic antigen expression in determining organ-specific autoimmunity. Furthermore, the dominant-negative effect of the G228W variant was exerted through recruitment of WT Aire away from active sites of transcription in the nucleus of medullary thymic epithelial cells in vivo. Together, these results may demonstrate a mechanism by which autoimmune predisposition to phenotypes distinct from APS 1 can be mediated in a dominant-negative fashion by Aire.
The Journal of Clinical Investigation