Figure 2.

The ExSpeU1 can rescue multiple mutations and, apparently, also those at position +1 and +2 of 5’ss. (A) Evaluation of F8 alternative splicing patterns in HEK293T cells transiently transfected with the wild-type or c.669T minigenes alone or in combination with a 1.5X molar excess of engineered U1-expression plasmids. The sequence of 5’ss of F8 exon 5 and of binding sites of engineered U1snRNAs are represented in the upper part of the figure. The schematic representation of the transcripts (with exons not in scale) is reported on the right. (B) F8 alternative splicing patterns in HEK293T cells transfected with mutant minigenes alone or in combination with the ExSpeU1sRNAs7. The schematic representation of the transcripts is reported on the right. Amplified products were separated on 2% agarose gel. M, 100 bp molecular weight marker.