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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

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

Figure 1

Base composition and conservation of the human ACVR 1 promoter. A) CpG islands plot reporting the analysis of the GC-nucleotide content and structure of the ACVR1 2.9 kb genomic region upstream of the TSS using the CpG-plot tool at the EMBL-EBI European Bioinformatics Institut, [http://www.ebi.ac.uk/Tools/emboss/cpgplot]. Upper panel: plot of the ratio of the observed over the expected GC content. Middle panel: GC content expressed as percentage (minimum percentage required to identify the presence of a CpG islands is 50%). Lower panel: identification of a 975 bp CpG island upstream and proximal to the first 5'UTR exon of the ACVR1 gene. B) Output of the comparative genomic analysis obtained with dedicated software available at the Vista Genome Browser (http://genome.lbl.gov/vista/index.shtml, tools for comparative analysis). Conserved sequences with a percentage of identity (vertical axis) that is higher than 70% are represented as red peaks (non coding sequences) and light blue peaks (UTR sequences, corresponding to the first UTR exon of the ACVR1 gene according to the NM_001111067.2 RefSeq) and are shown relative to their position in the human genome (horizontal axis) compared to the mouse.

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