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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

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

Fig. 5

Mutation studies on the cis-regulatory element of the TBX1 promoter associated with CTD. a Chromatograms of sequence variants within the TBX1 cis-regulatory element. (Top) shows the heterozygous mutation of patients, (Bottom) shows healthy controls, and all the variants are marked with arrows. b Schematic representation of the identified TBX1 cis-regulatory element variants in CTD patients. The transcription start site is at the position of g.19756703 (+1) in the first non-coding exon (E1). The numbers represent the genomic DNA sequences of the TBX1 gene (NC_000022.11). c The effects of GATA6 on the TBX1 mutation luciferase reporter genes M-130, M-143, and M-200. The WT or mutant TBX1 promoter reporter gene were transfected alone into the C2C12 cell line or cotransfected with the GATA6 expression vectors. The luciferase activities were normalized to Renilla and presented as the fold increase relative to the activity of the reporter in the presence of an empty expression plasmid (pGL3-basic + pcDNA3.1). Patient variants are associated with a significant transcription activity reduction by GATA6. Data shown are mean ± SEM, n = 4 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 Dunnett's multiple comparisons test, *p < 0.05 vs p-1179/+ 514, ***p < 0.001 vs p-1179/+ 514

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