APS1 and celiac patients reveal autoimmune amelogenesis imperfecta

To investigate the dependence of amelogenesis imperfecta-related gene expression and ameloblast-related gene expression on Aire in the thymus, mTEChi from Aire+/+ and Aire-/- were sorted and subjected to bulk RNAseq. mRNA profiles of mature medullary thymic epithelial cells (mTEChi) from young (4.5 weeks old) NOD.Aire-/- mice were generated by deep sequencing using the MARS seq method.为探究胸腺内自身免疫调节因子(Aire)对牙釉质发育不全(amelogenesis imperfecta)相关基因及成釉细胞相关基因表达的调控依赖性，研究人员分别分选了Aire野生型(Aire+/+)与Aire敲除型(Aire-/-)小鼠的mTEChi，并开展批量RNA测序(bulk RNAseq)。本研究采用MARS测序(MARS-seq)技术，对4.5周龄的年轻NOD.Aire-/-小鼠的成熟髓质胸腺上皮细胞(mature medullary thymic epithelial cells，缩写mTEChi)进行深度测序，成功获取其mRNA表达谱。