Molecular analysis of Tbx1-mediated oral adhesion

T-box转录因子Tbx 1是22q11.2缺失综合征的主要候选基因在本项目中，我们发现人类先天性疾病22q11.2缺失综合征的主要候选基因Tbx 1的遗传破坏，（Velo-cardio-facial/DiGeorge综合征），导致小鼠腭和下颌骨之间的异常上皮粘附，导致与人类状况相似的各种形式的腭裂。我们的研究结果表明，Tbx 1调节角质形成细胞的增殖和分化之间的平衡，腭融合和口腔粘膜分化是必不可少的。

T-box transcription factor, Tbx1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies, and cleft palates.In this project, we found that genetic disruption of Tbx1, a major candidate gene for the human congenital disorder 22q11.2 deletion syndrome (Velo-cardio-facial/DiGeorge syndrome), led to abnormal epithelial adhesion between the palate and mandible in mouse, resulting in various forms of cleft palate similar to human conditions. Our findings suggested that Tbx1 regulated the balance between proliferation and differentiation of keratinocytes and was essential for palatal fusion and oral mucosal differentiation.