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RNA Splicing and Disease: Animal Models to Therapies.

ABSTRACT: Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate that most human multiexon genes are alternatively spliced. If this process is not highly regulated and accurate, it leads to mis-splicing events, which may result in proteins with altered function. A growing body of work has implicated mis-splicing events in a range of diseases, including cancer, neurodegenerative diseases, and muscular dystrophies. Understanding the mechanisms that cause aberrant splicing events and how this leads to disease is vital for designing effective therapeutic strategies. In this review, we focus on advances in therapies targeting splicing, and highlight the animal models developed to recapitulate disease phenotypes as a model for testing these therapies.

SUBMITTER: Montes M

PROVIDER: S-EPMC6339821 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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RNA Splicing and Disease: Animal Models to Therapies.

Montes Matías M Sanford Brianne L BL Comiskey Daniel F DF Chandler Dawn S DS

Trends in genetics : TIG 20181119 1

Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate that most human multiexon genes are alternatively spliced. If this process is not highly regulated and accurate, it leads to mis-splicing events, which may result in proteins with altered function. A growing body of work has implicated mis-splicing events in a range of diseases, including cancer, neurodegenerative diseases, and muscular dystrophies. Understanding the mechanisms that cause aberrant splicing ...[more]

PMID: 30466729

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