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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva

Figure 2

Transcriptional activity of the 2. 9 kb promoter region of human ACVR1 gene in different cell lines. A) Schematic representation of the ACVR1 genomic structure and of the reporter construct containing the 2.9 kb genomic fragment. The gene consists of eleven exons, two untranslated (grey rectangles) and nine protein coding exons (black rectangles). The 2.9 region upstream the TSS indicated as +1 was subcloned upstream the Luciferase coding sequence as described in the Materials and Methods (this reporter construct is referred as Pr-2.9). B) Results obtained by transient transfection of the Pr-2.9 construct in the indicated cell lines. Transcriptional activity is reported as relative to the activity of the pGL3-Promoter vector carrying the SV40 promoter as control (Ref Act, 100%, RLU, Relative Light Unit). C) mRNA levels of the endogenous ACVR1 gene as assessed by RT-qPCR in U2OS and HeLa cells. GAPDH and β2-Microglobulin were used as Reference genes.

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