Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events

摘要: Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by mutations in the dystrophin gene. One-third of DMD cases are complicated mental retardation. Here, we used reverse transcription PCR to analyze pattern transcripts neuronal SH-SY5Y cells. Among three alternative promoters/first exons at 5′-end, only containing brain cortex-specific C1 exon could be amplified. The C-transcript appeared as two products: major product expected size and minor larger that contained cryptic 1a between 2. At 3′-end there was complete 78 skipping. Together, these findings indicate cells have neuron-specific characteristics with regard both promoter activation splicing. We also revealed partial skipping 9 71. Four amplified products were obtained from fragment covering 36–41: strong product, weak lacking either 37 or 38, second 568-bp insertion 40 41. inserted sequence matched intron perfectly. concluded splice site activated create novel, unusually large, 41e (751 bp). In total, identified seven splicing events cells, calculated 32 produced. Our results may provide clues analysis transcriptype–phenotype correlations regards retardation DMD.