Molecular analysis of Tbx1-mediated oral adhesion

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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.