Pre-mRNA Splicing Mechanisms, Misregulation in Disease, and Therapeutic Strategies

Krainer, A. (November 2012) Pre-mRNA Splicing Mechanisms, Misregulation in Disease, and Therapeutic Strategies. Blood, 120 (21). ISSN 0006-4971

URL: http://abstracts.hematologylibrary.org/cgi/content...

Abstract

Most eukaryotic protein-coding genes have one or more introns, and their transcripts can undergo alternative splicing, giving rise to multiple isoforms. Accurate splicing is essential for normal gene expression, and alternative splicing is a key mechanism for expanding the proteome and regulating the expression of diverse protein isoforms. This session will review the general mechanisms of pre-mRNA splicing and the regulation of alternative splicing. In addition, the process of how abnormal splicing arises as a result of intronic or exonic mutations in particular genes, or more globally as a result of splicing-factor misregulation, as well as the contribution of splicing misregulation to cancer, will be described. Lastly the current status of targeted therapeutics development, focusing on antisense approaches to correct abnormal splicing of specific genes or to modulate alternative splicing, will be discussed.

Item Type: Paper
Additional Information: Meeting Abstract
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
diseases & disorders
therapies
Publication Type > Meeting Abstract
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > pre-mRNA
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > RNA splicing
CSHL Authors:
Communities: CSHL labs > Krainer lab
Depositing User: Matt Covey
Date: November 2012
Date Deposited: 11 Dec 2013 20:22
Last Modified: 21 Feb 2018 21:03
URI: http://repository.cshl.edu/id/eprint/28901

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