期刊
HUMAN MUTATION
卷 32, 期 3, 页码 299-308出版社
WILEY
DOI: 10.1002/humu.21426
关键词
DMD; exon skipping; nonsense mutations; Becker muscular dystrophy; splicing motifs; dystrophin
资金
- National Institute of Neurologic Diseases and Stroke [R01 NS043264]
- National Center for Research Resources [M01-RR00064]
Nonsense mutations are usually predicted to function as null alleles due to premature termination of protein translation. However, nonsense mutations in the DMD gene, encoding the dystrophin protein, have been associated with both the severe Duchenne Muscular Dystrophy (DMD) and milder Becker Muscular Dystrophy (BMD) phenotypes. In a large survey, we identified 243 unique nonsense mutations in the DMD gene, and for 210 of these we could establish definitive phenotypes. We analyzed the reading frame predicted by exons flanking those in which nonsense mutations were found, and present evidence that nonsense mutations resulting in BMD likely do so by inducing exon skipping, confirming that exonic point mutations affecting exon definition have played a significant role in determining phenotype. We present a new model based on the combination of exon definition and intronic splicing regulatory elements for the selective association of BMD nonsense mutations with a subset of DMD exons prone to mutation-induced exon skipping. Hum Mutat 32:299-308, 2011. (C) 2011 Wiley-Liss, Inc.
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