Manipulation of endogenous regulatory elements and transgenic analyses of the Tbx1 gene

Pharyngeal morphogenesis is a complex process involving precise coordination of multiple cell types and transcription networks. TBX1 heterozygous mutation causes DiGeorge Syndrome, a typical disorder of pharyngeal development. In mice, loss of function of Tbx1 causes severe disruption of pharyngeal development. Therefore, to understand the regulatory circuits controlling the pharyngeal apparatus, it is important to understand how Tbx1 is regulated. Transgenic experiments had shown that a Forkhead (Fox) transcription factor binding site is required for the activity of a Tbx1 enhancer driving expression in many of the endogenous domains.