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 Menu

Export Article

Open AccessArticle
Biomolecules 2015, 5(2), 893-909; doi:10.3390/biom5020893

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
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Academic Editor: André P. Gerber
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)
View Full-Text   |   Download PDF [1624 KB, uploaded 13 May 2015]   |  

Abstract

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
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

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.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Biomolecules EISSN 2218-273X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top