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. 2013 Jul 4;8(7):e69096. doi: 10.1371/journal.pone.0069096

Figure 1. Schematic overview of ALK2 exon skipping.

Figure 1

Left panel: The ALK2 protein structural domains include ligand binding domain (LBD), transmembrane domain (TM), GS domain (GS), and kinase domain (KD). The position of each exon relative to each domain is denoted by broken lines. Right panel: The FOP mutation hot spot (c.617G→A; R206H) is in exon 8 (*). ALK2 AON (red bars, the sequence covered the FOP mutation hot spot) hybridizes and hides exon 8 from the splicing machinery, resulting in skipping exon 8 upon mRNA splicing. This out-of-frame mutation will lead to non-sense mediated decay of Alk2 mRNA. qPCR primers to detect Alk2 expression are indicated by green arrows; The primers for detecting of skipped band are indicated by blue arrows. While we targeted exon 8 for exon skipping, we do not exclude that other AONs targeting other exons can be designed that also inhibit ALK2 expression.