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Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I

In a recent issue of PLOS Genetics, we reported that the double-stranded RNA-binding protein, Staufen1, functions as a disease modifier in the neuromuscular disorder Myotonic Dystrophy Type I (DM1). In this work, we demonstrated that Staufen1 regulates the alternative splicing of exon 11 of the huma...

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Autores principales: Bondy-Chorney, Emma, Crawford Parks, Tara E., Ravel-Chapuis, Aymeric, Jasmin, Bernard J., Côté, Jocelyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027583/
https://www.ncbi.nlm.nih.gov/pubmed/27695661
http://dx.doi.org/10.1080/21675511.2016.1225644
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author Bondy-Chorney, Emma
Crawford Parks, Tara E.
Ravel-Chapuis, Aymeric
Jasmin, Bernard J.
Côté, Jocelyn
author_facet Bondy-Chorney, Emma
Crawford Parks, Tara E.
Ravel-Chapuis, Aymeric
Jasmin, Bernard J.
Côté, Jocelyn
author_sort Bondy-Chorney, Emma
collection PubMed
description In a recent issue of PLOS Genetics, we reported that the double-stranded RNA-binding protein, Staufen1, functions as a disease modifier in the neuromuscular disorder Myotonic Dystrophy Type I (DM1). In this work, we demonstrated that Staufen1 regulates the alternative splicing of exon 11 of the human Insulin Receptor, a highly studied missplicing event in DM1, through Alu elements located in an intronic region. Furthermore, we found that Staufen1 overexpression regulates numerous alternative splicing events, potentially resulting in both positive and negative effects in DM1. Here, we discuss our major findings and speculate on the details of the mechanisms by which Staufen1 could regulate alternative splicing, in both normal and DM1 conditions. Finally, we highlight the importance of disease modifiers, such as Staufen1, in the DM1 pathology in order to understand the complex disease phenotype and for future development of new therapeutic strategies.
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spelling pubmed-50275832016-09-30 Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I Bondy-Chorney, Emma Crawford Parks, Tara E. Ravel-Chapuis, Aymeric Jasmin, Bernard J. Côté, Jocelyn Rare Dis Addendum In a recent issue of PLOS Genetics, we reported that the double-stranded RNA-binding protein, Staufen1, functions as a disease modifier in the neuromuscular disorder Myotonic Dystrophy Type I (DM1). In this work, we demonstrated that Staufen1 regulates the alternative splicing of exon 11 of the human Insulin Receptor, a highly studied missplicing event in DM1, through Alu elements located in an intronic region. Furthermore, we found that Staufen1 overexpression regulates numerous alternative splicing events, potentially resulting in both positive and negative effects in DM1. Here, we discuss our major findings and speculate on the details of the mechanisms by which Staufen1 could regulate alternative splicing, in both normal and DM1 conditions. Finally, we highlight the importance of disease modifiers, such as Staufen1, in the DM1 pathology in order to understand the complex disease phenotype and for future development of new therapeutic strategies. Taylor & Francis 2016-08-19 /pmc/articles/PMC5027583/ /pubmed/27695661 http://dx.doi.org/10.1080/21675511.2016.1225644 Text en Published with license by Taylor & Francis http://creativecommons.org/licenses/by/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License http://creativecommons.org/licenses/by/3.0/, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The moral rights of the named author(s) have been asserted.
spellingShingle Addendum
Bondy-Chorney, Emma
Crawford Parks, Tara E.
Ravel-Chapuis, Aymeric
Jasmin, Bernard J.
Côté, Jocelyn
Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I
title Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I
title_full Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I
title_fullStr Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I
title_full_unstemmed Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I
title_short Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I
title_sort staufen1s role as a splicing factor and a disease modifier in myotonic dystrophy type i
topic Addendum
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027583/
https://www.ncbi.nlm.nih.gov/pubmed/27695661
http://dx.doi.org/10.1080/21675511.2016.1225644
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