Mutation in pycr1a exon 3 disrupts predicted exonic splicing enhancers

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Mutation in pycr1a exon 3 disrupts predicted exonic splicing enhancers. Mutation in pycr1a exon 3 disrupts predicted exonic splicing enhancers. (A) An insertion of CTGATGG (ins7) was introduced by CRISPR/Cas9 targeting at the sgRNA site 2 bp upstream (indicated by an arrow) from the PAM sequence. sgRNA target site, PAM, intron and exon sequences are indicated. (B) RT-PCR detection of deletion in pycr1a cDNA with the skipped exon 3. Amplification of pycr1a cDNA fragments for insertion into mutation reporter constructs shows evidence of exon skipping (cDNA fragment with deletion). (C) Exonic splicing enhancers disrupted by ins7 mutation. Exonic splicing enhancer predictions were performed using ESE Finder 3.0 and RESCUE-ESE. For the ESE Finder enhancers, the protein matrix used is indicated and for the RESCUE-ESE, the hexamer overlapping the insertion site is shown. Sergey V. Prykhozhij et al. Dis. Model. Mech. 2017;10:811-822 © 2017. Published by The Company of Biologists Ltd