Work

Alternative splicing and muscular dystrophy

Year: 2010

Type: review

Abstract: 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.

Source: RNA Biology

DOI: 10.4161/rna.7.4.12258

Authors: Mariaelena Pistoni, Claudia Ghigna, Davide Gabellini

Institutions: IRCCS Ospedale San Raffaele, Istituto di Genetica Molecolare, Dulbecco Telethon Institute

Language: English

Topic: RNA Research and Splicing

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Muscular Dystrophy Association