Splicing of human chloride channel 1.

Expression of () in skeletal muscle is driven by alternative splicing, a process regulated in part by RNA-binding protein families MBNL and CELF. Aberrant splicing of produces many mRNAs, which were translated into inactive proteins, resulting in myotonia in myotonic dystrophy (DM), a genetic disorder caused by the expansion of a CTG or CCTG repeat. This increase in abnormal splicing variants containing exons 6B, 7A or the insertion of a TAG stop codon just before exon 7 leads to a decrease in expression of the normal splice pattern. The majority of studies examining splicing in have been performed using mouse , as have investigations into the activation and suppression of normal splicing variant expression by and , respectively. In contrast, examinations of human have been less common due to the greater complexity of splicing patterns. Here, we constructed a minigene containing exons 5-7 and established a novel assay system to quantify the expression of the normal splicing variant of using real-time RT-PCR. Antisense oligonucleotides could promote normal alternative splicing but the effective sequence was different from that of . This result differs from previous reports using , highlighting the effect of differences in splicing patterns between mice and humans.