Article
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.
Human genetics - 1 Sept 2015
Nishida Atsushi, Minegishi Maki, Takeuchi Atsuko, Awano Hiroyuki, Niba Emma Tabe Eko, Matsuo Masafumi
Abstract excerpt
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by mutations in the dystrophin gene. One-third of DMD cases are complicated by mental retardation. Here, we used reverse transcription PCR to analyze the pattern of dystrophin transcripts in neuronal SH-SY5Y cells. Among the three alternative promoters/first exons at the 5'-end, only transcripts containing the brain cortex-specific...
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