Fig. 4: New intronic donor site-activating DKC1 mutation targeted by YSC-003 via three different chemistries.

a YSC-003 was designed to target a new donor site-activating mutant. The gel image shows the wild-type and aberrant transcripts in the wild-type minigene, mutant minigene, mutant minigene following standard morpholino treatment (40 µM), and mutant minigene following control morpholino treatment (40 µM). b The gel image shows the effects of standard morpholino at different concentrations on the wild-type and aberrant transcripts of the mutant minigene. The graph compares the wild-type and aberrant transcript expression levels of the mutant minigene following ASO treatment to those of the wild-type minigene. c The gel image shows the effects of different concentrations of Vivo-morpholino on the wild-type and aberrant transcripts of the mutant minigene. The graph compares the wild-type and aberrant transcript expression levels of the mutant minigene following ASO treatment to those of the wild-type minigene. d The gel image shows the effects of 2′MOE at different concentrations on the wild-type and aberrant transcripts of the mutant minigene. The graph compares the wild-type and aberrant transcript expression levels of the mutant minigene following ASO treatment to those of the wild-type minigene. e The summary table compiles the outcomes of the three different types of chemistries.