Tbx1, a gene encoding a T-box transcription factor, is associated with DiGeorge syndrome [2,4,5]. It is neither a strong transcriptional activator nor repressor but regulates numerous genes via epigenetic modifications [2]. Tbx1 is expressed from approximately E7.5 in mouse embryos and is involved in various biological processes, including development of the cardiac, vascular, and central nervous systems [2].

In mouse models, Tbx1-deficient mice show complete mineralization of the spheno-occipital synchondrosis at birth due to accelerated chondrocyte differentiation, indicating its role in regulating chondrocyte maturation and osteogenesis during synchondrosis development [5]. In C2C12 myoblasts, overexpression of TBX1 inhibits cell proliferation and muscle differentiation, potentially through the TGFβ-Smad2/3 pathway [3]. In the context of myocardial infarction, Tbx1 in lymphatic endothelial cells promotes an immunosuppressive microenvironment, increasing tolerogenic dendritic cells and regulatory T cells, which in turn facilitates post-myocardial infarction repair [1]. Also, in H9c2 cells, TBX1 silencing promotes TGF-β2 expression via down-regulating miR-193a-3p, and the TBX1/miR-193a-3p/TGF-β2 axis promotes ferroptosis, mediating congenital heart disease [6].

In summary, Tbx1 plays crucial roles in development, including chondrocyte maturation, myoblast differentiation, and post-myocardial infarction repair. Gene-knockout mouse models have been instrumental in revealing its functions in these processes. Its involvement in diseases such as congenital heart disease and potential roles in others like muscular dystrophy highlight the importance of understanding Tbx1 for disease mechanisms and potential therapeutic development [3,5,6].