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International Journal of Cell Biology
Volume 2013, Article ID 810572, 16 pages
http://dx.doi.org/10.1155/2013/810572
Review Article

Role of Pseudoexons and Pseudointrons in Human Cancer

1Department of Life Sciences, University of Trieste, Via A. Valerio 28, 34127 Trieste, Italy
2International Centre for Genetic Engineering and Biotechnology (ICGEB), 34149 Trieste, Italy
3Human Development and Health, University of Southampton, Duthie Building, Mailpoint 808, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK
4Human Genetics Division, University of Southampton, Duthie Building, Mailpoint 808, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK

Received 17 June 2013; Accepted 9 August 2013

Academic Editor: Claudia Ghigna

Copyright © 2013 Maurizio Romano et al. 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.

Abstract

In all eukaryotic organisms, pre-mRNA splicing and alternative splicing processes play an essential role in regulating the flow of information required to drive complex developmental and metabolic pathways. As a result, eukaryotic cells have developed a very efficient macromolecular machinery, called the spliceosome, to correctly recognize the pre-mRNA sequences that need to be inserted in a mature mRNA (exons) from those that should be removed (introns). In healthy individuals, alternative and constitutive splicing processes function with a high degree of precision and fidelity in order to ensure the correct working of this machinery. In recent years, however, medical research has shown that alterations at the splicing level play an increasingly important role in many human hereditary diseases, neurodegenerative processes, and especially in cancer origin and progression. In this minireview, we will focus on several genes whose association with cancer has been well established in previous studies, such as ATM, BRCA1/A2, and NF1. In particular, our objective will be to provide an overview of the known mechanisms underlying activation/repression of pseudoexons and pseudointrons; the possible utilization of these events as biomarkers of tumor staging/grading; and finally, the treatment options for reversing pathologic splicing events.