Fig. 1

Deletion analysis identifies a 0.65-kb region around the TBX1 TSS essential for transcriptional activity in the C2C12 cell line. (Upper left), genomic organization of the 5′ flanking region of human TBX1. The boxes show exons: blank box, non-coding exon; dark box, coding exon; E1, exon 1; E2, exon 2. Numbering shows the position relative to the TSS of the TBX1 gene at g.19756703 (+1) of NC_000022.11. (Bottom left), schematic representation of 5′ truncated luciferase constructs. (Right), deletion analysis of the 5′ human TBX1 flanking region. Relative luciferase activity of different 5′-serially deleted TBX1 reporter constructs transfected in C2C12 cells, which were normalized to Renilla and represented as the fold increase when compared to the pGL3-basic vector. Data are shown as mean ± SEM, statistical significance was calculated by one-way ANOVA with Dunnett’s post hoc test, n = 3 independent experiments, ***p < 0.001 vs pGL3-basic