Representative examples of alternative splicing of two genes (DICER1 and DAAM1). Circled regions represent exonic regions where multiple probes had a significant change in probe intensity level between the normally developing and control subjects and the subjects with TOF. Note that there is not a significant difference in the probe intensities in other regions of the genes. In addition, note that the blue line represents probe intensities of samples from fetal tissue which differed significantly from the control tissue in the circled regions but did not differ from the samples from subjects with TOF. Standard error bars are shown for each probe. N: TOF = 16, Control = 8, Fetal = 3.

Fetal-type splice isoforms are reduced after overexpression of scaRNAs. Data are fold change of exons that represents regions of variability within the alternatively spliced gene. Each value is derived from the mean intensity level from three different primary myocyte cell lines (3 biological replicates with 3 technical replicates for each individual gene analyzed by qRT-PCR). The normal comparison cells (blue) provide a reference point for comparisons between the sham transfected TOF cells and those with the expression vectors. * significantly different from levels in sham transfected TOF primary cells. The TOF primary cells were derived from three different infants and each PCR included 3 technical replicates. Expression plasmids pCGL-ACA26 and pCGL-ACA35 were a generous gift from Dr. Tamas Kiss, Universite Paul Sabatier, Toulouse, France.

Representative images of zebrafish wildtype embryos (WT) and embryos treated with antisense morpholinos (MO) and mismatch morpholinos (misMO). Ventral view. The heart is circled in the morphants treated with antisense morpholinos.

Treating zebrafish embryos with Anti-U94 morpholino causes changes in exon retention of cardiac regulatory genes. 13 of 39 members of the WNT family have changes in exon retention after treatment with antisense morpholino (assessed by RNA-Seq and qRT-PCR, Values shown are from qRT-PCR data). Data are fold change of exons that represents regions of variability within the alternatively spliced gene. (Each gene analyzed by qRT-PCR was done on 3 separate embryo samples with 3 technical replicates). * significant p < 0.05.