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Role of pseudoexons and pseudointrons in human cancer

Role of pseudoexons and pseudointrons in human cancer
Role of pseudoexons and pseudointrons in human cancer
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.
1687-8876
1-16
Romano, Maurizio
6d70e489-7ce4-4957-88bb-50bbeb311ede
Buratti, Emanuele
57e8e002-a8c2-409a-ac29-2fc4a1d1c8b9
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Romano, Maurizio
6d70e489-7ce4-4957-88bb-50bbeb311ede
Buratti, Emanuele
57e8e002-a8c2-409a-ac29-2fc4a1d1c8b9
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91

Romano, Maurizio, Buratti, Emanuele and Baralle, Diana (2013) Role of pseudoexons and pseudointrons in human cancer. International Journal of Cell Biology, 2013 (810572), 1-16. (doi:10.1155/2013/810572). (PMID:24204383)

Record type: Article

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.

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Published date: 24 September 2013
Organisations: Human Development & Health

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Local EPrints ID: 367208
URI: http://eprints.soton.ac.uk/id/eprint/367208
ISSN: 1687-8876
PURE UUID: 9222bb11-d07a-4903-8b3e-22465b8e4b33
ORCID for Diana Baralle: ORCID iD orcid.org/0000-0003-3217-4833

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Date deposited: 24 Jul 2014 08:47
Last modified: 28 Oct 2023 01:58

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Contributors

Author: Maurizio Romano
Author: Emanuele Buratti
Author: Diana Baralle ORCID iD

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