Dystrophin in frameshift deletion patients with Becker Muscular Dystrophy
- Penn State College of Medicine, Hershey, PA (United States)
- Univ. Hospital, Saskatchewan (Canada)
In a previous study the authors identified 14 cases with Duchenne muscular dystrophy (DMD) or its milder variant, Becker muscular dystrophy (BMD), with a deletion of exons 3-7, a deletion that would be expected to shift the translational reading frame of the mRNA and give a severe phenotype. They have examined dystrophin and its mRNA from muscle biopsies of seven cases with either mild or intermediate phenotypes. In all cases they detected slightly lower-molecular-weight dystrophin in 12%-15% abundance relative to the normal. By sequencing amplified mRNA they have found that exon 2 is spliced to exon 8, a splice that produces a frameshifted mRNA, and have found no evidence for alternate splicing that might be involved in restoration of dystrophin mRNA reading frame in the patients with a mild phenotype. Other transcriptional and posttranscriptional mechanisms such as cryptic promoter, ribosomal frameshifting, and reinitiation are suggested that might play some role in restoring the reading frame. 34 refs., 5 figs. 1 tab.
- OSTI ID:
- 5017567
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 51:3; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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