期刊
RNA BIOLOGY
卷 7, 期 4, 页码 441-452出版社
TAYLOR & FRANCIS INC
DOI: 10.4161/rna.7.4.12258
关键词
repetitive DNA; epigenetics; chromatin; muscular dystrophy; alternative splicing; myotonic muscular dystrophy; facioscapulohumeral muscular dystrophy
资金
- European Research Council (ERC)
- Muscular Dystrophy Association of USA (MDA)
- European Alternative Splicing Network of Excellence (EURASNET)
- Jaya Motta private donation
- FSH Society, Inc.
- Fondazione Telethon Funding Source: Custom
Alternative splicing of pre-mRNAs is a major contributor to proteomic diversity and to the control of gene expression in higher eukaryotic cells. For this reasons, alternative splicing is tightly regulated in different tissues and developmental stages and its disruption can lead to a wide range of human disorders. The aim of this review is to focus on the relevance of alternative splicing for muscle function and muscle disease. We begin by giving a brief overview of alternative splicing, muscle-specific gene expression and muscular dystrophy. Next, to illustrate these concepts we focus on two muscular dystrophy, myotonic muscular dystrophy and facioscapulohumeral muscular dystrophy, both associated to disruption of splicing regulation in muscle.
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