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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation

Fig. 2

GATA6 transcriptional regulation of TBX1 promoter. a Diagrammatic representation of the TBX1 cis-regulatory element showing putative potential GATA, NKX2-5, and SRF binding sites. b The influence of transcription factors on the p-138/+ 514 reporter gene in the C2C12 and NIH/3T3 cell lines. Luciferase analysis after cotransfection with luciferase reporter constructs containing the TBX1 cis-regulatory element TBX1-138/+ 514 and the expression vector of GATA6, GATA4, NKX2-5, SRF or empty vector (pcDNA3.1). The results were normalized to Renilla and presented as the fold induction over the pcDNA3.1 vector. Data are shown as mean ± SEM, significance was calculated by one-way ANOVA with Dunnett’s multiple comparisons test, n = 3 independent experiments, **p < 0.01 vs pcDNA3.1, ***p < 0.001 vs pcDNA3.1 in each cell line. c The influence of GATA6 on the TBX1 promoter reporter gene p-1179/+ 514 in the C2C12 and NIH/3T3 cell lines. Luciferase analysis after cotransfection with luciferase reporter p-1179/+ 514 and GATA6 expression vector or empty vector (pcDNA3.1). The results were normalized to Renilla and presented as the fold induction over the pcDNA3.1 vector. Data are shown as mean ± SEM, two-tailed unpaired t test was used for statistical calculation, n = 3 independent experiments, **p < 0.01 vs pcDNA3.1, ***p < 0.001 vs pcDNA3.1 in each cell line. d and e The effects of the transcription factor GATA6 on the TBX1 promoter reporter gene in C2C12 and NIH/3T3 cell lines. Luciferase analysis after cotransfection of luciferase reporter and GATA6 expression construct or empty vector (pcDNA3.1). The results were normalized to Renilla and presented as the fold induction over basal reporter (pGL3-basic + pcDNA3.1). Data are shown as mean ± SEM, n = 3 independent experiments. Significance was calculated by two-way ANOVA with Sidak’s post hoc test, ###p < 0.001. Significance was calculated by two-way ANOVA with Tukey's multiple comparisons test, *p < 0.05, **p < 0.01, ***p < 0.001

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