Tbx1: Transcriptional and Developmental Functions

Abstract Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7.5 in mouse embryos and continues to be expressed in a highly dynamic manner. It is neither a strong transcriptional activator nor a strong repressor, but it regulates a large number of genes through epigenetic modifications. Here, we review recent literature concerning mechanisms of gene regulation by Tbx1 and its role in mammalian development, with a special focus on the cardiac, vascular, and central nervous systems.