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. 2020 Feb 6;10:1365. doi: 10.3389/fgene.2019.01365

Figure 2.

Figure 2

Molecular pathways intersecting with TBX1 with the potential to modulate the clinical severity and penetrance of 22q11.2del. The expression of TBX1, a key gene coupled to the patterning of the pharyngeal apparatus, is positively regulated by members of the Fox-family of transcription factors and MOZ. Negative regulators of TBX1 include the defined teratogens, retinoic acid (RA), gestational diabetes, and miR-96 and miR-451a, the latter two miRNAs that target the 3' untranslated region of TBX1, resulting in its degradation. While most TBX1 resides in the nucleus, wherein it can regulate gene expression, a fraction of TBX1 is localized in the cytosol, where it negatively impacts bone morphogenic protein signaling via a complex with SMAD4.