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. 2013 Feb 25;8(2):e57506. doi: 10.1371/journal.pone.0057506

Figure 1. In vitro splicing assays for the seven splicing mutations identified in the USH1 genes.

Figure 1

Gel electrophoresis shows the different splicing processes for WT minigene and mutants constructions. COS-7 cell transfection experiments were performed in duplicate. A. c.470G>A (p.S157N, MYO7A ). Band A is the correct transcript of exon 5 (MYO7A). Band B is the skipping of involved exon. B. c.1342_1343delAG (p.S448LfsX2, MYO7A ). Band A is the correct transcript corresponding to the exon 12 (MYO7A). Band B is the skipping of exon 12. C. c.3652G>A (p.G1218R MYO7A ). Band A is the correct transcript of exon 29 (MYO7A). The band B is the exon skipping. Band C is the heteroduplex formation from band A and band B. Band D is the aberrant splicing process that include the deletion of 103-bp of 5′end of exon 29. D. c.2289+1G>A ( CDH23 ). Band A is the normal transcript of exon 21 (CDH23). Band B is the skipping of exon 21. Band C is the aberrant splicing process that includes the first 149 nucleotides of intron 21. E. c.6049G>A (p.G2017S, CDH23 ). Band A is the correct transcript of exon 46 (CDH23). Band B is the skipping of exon 46. Band C is the heteroduplex formation from the band A and B. F. c.8722+1delG ( CDH23 ). Band A is the correct splicing process of exon 60 (CDH23). Band B is the abnormal splicing process of exon 60 that shows a deletion of the last nucleotide (G) of the involved exon. G. c.3717+2dupTT ( PCDH15 ). Band A is the correct transcript of exon 27 (PCDH15). Band B is the skipping of the involved exon. Band C is the transcript corresponding to the new donor splice site from exon 27 plus the first 52 nucleotides of the intron 27. Band D is the heteroduplex formation from the band B and the band D.