Next Article in Journal
Endiandric Acid Derivatives and Other Constituents of Plants from the Genera Beilschmiedia and Endiandra (Lauraceae)
Next Article in Special Issue
RNA-Mediated Regulation of HMGA1 Function
Previous Article in Journal
Mechanisms of Alpha-Synuclein Action on Neurotransmission: Cell-Autonomous and Non-Cell Autonomous Role
Previous Article in Special Issue
RNA Binding Proteins that Control Human Papillomavirus Gene Expression
 
 
Article

RNA-Binding Proteins: Splicing Factors and Disease

1
Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02903, USA
2
Center for Computational Molecular Biology, Brown University, 115 Waterman Street, Providence, RI 02912, USA
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: André P. Gerber
Biomolecules 2015, 5(2), 893-909; https://doi.org/10.3390/biom5020893
Received: 1 April 2015 / Revised: 22 April 2015 / Accepted: 29 April 2015 / Published: 13 May 2015
(This article belongs to the Special Issue RNA-Binding Proteins—Structure, Function, Networks and Disease)
Pre-mRNA splicing is mediated by interactions of the Core Spliceosome and an array of accessory RNA binding proteins with cis-sequence elements. Splicing is a major regulatory component in higher eukaryotes. Disruptions in splicing are a major contributor to human disease. One in three hereditary disease alleles are believed to cause aberrant splicing. Hereditary disease alleles can alter splicing by disrupting a splicing element, creating a toxic RNA, or affecting splicing factors. One of the challenges of medical genetics is identifying causal variants from the thousands of possibilities discovered in a clinical sequencing experiment. Here we review the basic biochemistry of splicing, the mechanisms of splicing mutations, the methods for identifying splicing mutants, and the potential of therapeutic interventions. View Full-Text
Keywords: RNA-binding proteins; motif; splicing RNA-binding proteins; motif; splicing
Show Figures

Figure 1

MDPI and ACS Style

Fredericks, A.M.; Cygan, K.J.; Brown, B.A.; Fairbrother, W.G. RNA-Binding Proteins: Splicing Factors and Disease. Biomolecules 2015, 5, 893-909. https://doi.org/10.3390/biom5020893

AMA Style

Fredericks AM, Cygan KJ, Brown BA, Fairbrother WG. RNA-Binding Proteins: Splicing Factors and Disease. Biomolecules. 2015; 5(2):893-909. https://doi.org/10.3390/biom5020893

Chicago/Turabian Style

Fredericks, Alger M., Kamil J. Cygan, Brian A. Brown, and William G. Fairbrother. 2015. "RNA-Binding Proteins: Splicing Factors and Disease" Biomolecules 5, no. 2: 893-909. https://doi.org/10.3390/biom5020893

Find Other Styles

Article Access Map by Country/Region

1
Only visits after 24 November 2015 are recorded.
Back to TopTop