Marsollier, A-C;
Joubert, R;
Mariot, V;
Dumonceaux, J;
(2018)
Targeting the polyadenylation signal of pre-mRNA: a new gene silencing approach for Facioscapulohumeral dystrophy.
International Journal of Molecular Sciences
, 19
(5)
, Article 1347. 10.3390/ijms19051347.
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Abstract
Facioscapulohumeral dystrophy (FSHD) is characterized by the contraction of the D4Z4 array located in the sub-telomeric region of the chromosome 4, leading to the aberrant expression of the DUX4 transcription factor and the mis-regulation of hundreds of genes. Several therapeutic strategies have been proposed among which the possibility to target the polyadenylation signal to silence the causative gene of the disease. Indeed, defects in mRNA polyadenylation leads to an alteration of the transcription termination, a disruption of mRNA transport from the nucleus to the cytoplasm decreasing the mRNA stability and translation efficiency. This review discusses the polyadenylation mechanisms, why alternative polyadenylation impacts gene expression, and how targeting polyadenylation signal may be a potential therapeutic approach for FSHD.
| Type: | Article |
|---|---|
| Title: | Targeting the polyadenylation signal of pre-mRNA: a new gene silencing approach for Facioscapulohumeral dystrophy |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3390/ijms19051347 |
| Publisher version: | https://doi.org/10.3390/ijms19051347 |
| Language: | English |
| Additional information: | Copyright © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
| Keywords: | polyadenylation; alternative polyadenylation; muscular diseases; facioscapulohumeral dystrophy; myotonic dystrophy; therapeutic strategies |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10047684 |
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