Effect of the optimization of the 5’ splice site of exon 11 on minigenes splicing profile.

<p>The splicing score of exon 11 5’ splice site was optimized in the 3A6T minigene by introducing the c.1199+3G>A and c.1199+6A>T changes as shown in the above panel, along with the predicted scores calculated with HSF (<a href="http://www.umd.be/HSF3/" target="_blank">http://www.umd.be/HSF3/</a>), MaxEntScan (<a href="http://genes.mit.edu/burgelab/maxent/Xmaxentscan_scoreseq.html" target="_blank">http://genes.mit.edu/burgelab/maxent/Xmaxentscan_scoreseq.html</a>) and BDGP (<a href="http://www.fruitfly.org/seq_tools/splice.html" target="_blank">http://www.fruitfly.org/seq_tools/splice.html</a>). The gel shows the RT-PCR results after transfection of the wild type (wt) and mutant pcDNA3.1 minigenes with and without the optimized 5’ splice site. The estimated percentage of exon inclusion is shown below each lane. On the right of the gel is the schematic drawing showing the identity of the bands.