The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression
Identifieur interne : 002A75 ( Pmc/Curation ); précédent : 002A74; suivant : 002A76The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression
Auteurs : Céline Vanderplanck [Belgique] ; Eugénie Ansseau [Belgique] ; Sébastien Charron [Belgique] ; Nadia Stricwant [Belgique] ; Alexandra Tassin [Belgique] ; Dalila Laoudj-Chenivesse [France] ; Steve D. Wilton [Australie] ; Frédérique Coppée [Belgique] ; Alexandra Belayew [Belgique]Source :
- PLoS ONE [ 1932-6203 ] ; 2011.
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35 within the
We now show that transfection of myoblasts with a
These results constitute a proof of concept for the development of therapeutic approaches for FSHD targeting
Url:
DOI: 10.1371/journal.pone.0026820
PubMed: 22053214
PubMed Central: 3203905
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression</title><author><name sortKey="Vanderplanck, Celine" sort="Vanderplanck, Celine" uniqKey="Vanderplanck C" first="Céline" last="Vanderplanck">Céline Vanderplanck</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Ansseau, Eugenie" sort="Ansseau, Eugenie" uniqKey="Ansseau E" first="Eugénie" last="Ansseau">Eugénie Ansseau</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Charron, Sebastien" sort="Charron, Sebastien" uniqKey="Charron S" first="Sébastien" last="Charron">Sébastien Charron</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Stricwant, Nadia" sort="Stricwant, Nadia" uniqKey="Stricwant N" first="Nadia" last="Stricwant">Nadia Stricwant</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Tassin, Alexandra" sort="Tassin, Alexandra" uniqKey="Tassin A" first="Alexandra" last="Tassin">Alexandra Tassin</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Laoudj Chenivesse, Dalila" sort="Laoudj Chenivesse, Dalila" uniqKey="Laoudj Chenivesse D" first="Dalila" last="Laoudj-Chenivesse">Dalila Laoudj-Chenivesse</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>INSERM U1046, Le Centre Hospitalier Universitaire Arnaud de Villeneuve, Montpellier, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U1046, Le Centre Hospitalier Universitaire Arnaud de Villeneuve, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Wilton, Steve D" sort="Wilton, Steve D" uniqKey="Wilton S" first="Steve D." last="Wilton">Steve D. Wilton</name><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Molecular Genetic Therapy Group, University of Western Australia, Nedlands, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Molecular Genetic Therapy Group, University of Western Australia, Nedlands</wicri:regionArea></affiliation></author><author><name sortKey="Coppee, Frederique" sort="Coppee, Frederique" uniqKey="Coppee F" first="Frédérique" last="Coppée">Frédérique Coppée</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Belayew, Alexandra" sort="Belayew, Alexandra" uniqKey="Belayew A" first="Alexandra" last="Belayew">Alexandra Belayew</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22053214</idno><idno type="pmc">3203905</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3203905</idno><idno type="RBID">PMC:3203905</idno><idno type="doi">10.1371/journal.pone.0026820</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">002C25</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002C25</idno><idno type="wicri:Area/Pmc/Curation">002A75</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002A75</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression</title><author><name sortKey="Vanderplanck, Celine" sort="Vanderplanck, Celine" uniqKey="Vanderplanck C" first="Céline" last="Vanderplanck">Céline Vanderplanck</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Ansseau, Eugenie" sort="Ansseau, Eugenie" uniqKey="Ansseau E" first="Eugénie" last="Ansseau">Eugénie Ansseau</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Charron, Sebastien" sort="Charron, Sebastien" uniqKey="Charron S" first="Sébastien" last="Charron">Sébastien Charron</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Stricwant, Nadia" sort="Stricwant, Nadia" uniqKey="Stricwant N" first="Nadia" last="Stricwant">Nadia Stricwant</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Tassin, Alexandra" sort="Tassin, Alexandra" uniqKey="Tassin A" first="Alexandra" last="Tassin">Alexandra Tassin</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Laoudj Chenivesse, Dalila" sort="Laoudj Chenivesse, Dalila" uniqKey="Laoudj Chenivesse D" first="Dalila" last="Laoudj-Chenivesse">Dalila Laoudj-Chenivesse</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>INSERM U1046, Le Centre Hospitalier Universitaire Arnaud de Villeneuve, Montpellier, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U1046, Le Centre Hospitalier Universitaire Arnaud de Villeneuve, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Wilton, Steve D" sort="Wilton, Steve D" uniqKey="Wilton S" first="Steve D." last="Wilton">Steve D. Wilton</name><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Molecular Genetic Therapy Group, University of Western Australia, Nedlands, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Molecular Genetic Therapy Group, University of Western Australia, Nedlands</wicri:regionArea></affiliation></author><author><name sortKey="Coppee, Frederique" sort="Coppee, Frederique" uniqKey="Coppee F" first="Frédérique" last="Coppée">Frédérique Coppée</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author><author><name sortKey="Belayew, Alexandra" sort="Belayew, Alexandra" uniqKey="Belayew A" first="Alexandra" last="Belayew">Alexandra Belayew</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Molecular Biology, University of Mons, Mons</wicri:regionArea></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35 within the <italic>D4Z4</italic> repeat array in which we identified the <underline>d</underline>o<underline>u</underline>ble homeobo<underline>x</underline> 4 (<italic>DUX4)</italic> gene. We found stable DUX4 mRNAs only derived from the most distal <italic>D4Z4</italic> unit and unexpectedly extended to the flanking <italic>pLAM</italic> region that provided an intron and a polyadenylation signal. <italic>DUX4</italic> encodes a transcription factor expressed in FSHD but not control primary myoblasts or muscle biopsies. The DUX4 protein initiates a large transcription deregulation cascade leading to muscle atrophy and oxidative stress, which are FSHD key features.</p></sec><sec><title>Methodology/Principal Findings</title><p>We now show that transfection of myoblasts with a <italic>DUX4</italic> expression vector leads to atrophic myotube formation associated with the induction of E3 ubiquitin ligases (MuRF1 and Atrogin1/MAFbx) typical of muscle atrophy. DUX4 induces expression of downstream targets deregulated in FSHD such as mu-crystallin and TP53. We developed specific siRNAs and antisense oligonucleotides (AOs) targeting the <italic>DUX4</italic> mRNA. Addition of these antisense agents to primary FSHD myoblast cultures suppressed DUX4 protein expression and affected expression of the above-mentioned markers.</p></sec><sec><title>Conclusions/Significance</title><p>These results constitute a proof of concept for the development of therapeutic approaches for FSHD targeting <italic>DUX4</italic> expression.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Wijmenga, C" uniqKey="Wijmenga C">C Wijmenga</name></author><author><name sortKey="Hewitt, Je" uniqKey="Hewitt J">JE Hewitt</name></author><author><name sortKey="Sandkuijl, La" uniqKey="Sandkuijl L">LA Sandkuijl</name></author><author><name sortKey="Clark, Ln" uniqKey="Clark L">LN Clark</name></author><author><name sortKey="Wright, Tj" uniqKey="Wright T">TJ Wright</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hewitt, Je" uniqKey="Hewitt J">JE Hewitt</name></author><author><name 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<front><journal-meta><journal-id journal-id-type="nlm-ta">PLoS One</journal-id><journal-id journal-id-type="publisher-id">plos</journal-id><journal-id journal-id-type="pmc">plosone</journal-id><journal-title-group><journal-title>PLoS ONE</journal-title></journal-title-group><issn pub-type="epub">1932-6203</issn><publisher><publisher-name>Public Library of Science</publisher-name><publisher-loc>San Francisco, USA</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22053214</article-id><article-id pub-id-type="pmc">3203905</article-id><article-id pub-id-type="publisher-id">PONE-D-11-14845</article-id><article-id pub-id-type="doi">10.1371/journal.pone.0026820</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="Discipline-v2"><subject>Biology</subject><subj-group><subject>Genetics</subject><subj-group><subject>Gene Expression</subject><subj-group><subject>DNA transcription</subject><subject>Protein Translation</subject><subject>RNA interference</subject><subject>RNA processing</subject><subject>RNA stability</subject></subj-group></subj-group><subj-group><subject>Molecular Genetics</subject><subj-group><subject>Gene Regulation</subject></subj-group></subj-group><subj-group><subject>Gene Function</subject><subject>Gene Splicing</subject><subject>Genetics of Disease</subject></subj-group></subj-group><subj-group><subject>Molecular Cell Biology</subject><subj-group><subject>Cellular Types</subject><subj-group><subject>Muscle Fibers</subject><subject>Muscle Cells</subject></subj-group></subj-group><subj-group><subject>Gene Expression</subject><subj-group><subject>Protein Translation</subject><subject>RNA interference</subject><subject>RNA processing</subject><subject>RNA stability</subject></subj-group></subj-group><subj-group><subject>Cell Growth</subject></subj-group></subj-group></subj-group></article-categories><title-group><article-title>The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression</article-title><alt-title alt-title-type="running-head">DUX4 Expression in FSHD</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Vanderplanck</surname><given-names>Céline</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ansseau</surname><given-names>Eugénie</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Charron</surname><given-names>Sébastien</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Stricwant</surname><given-names>Nadia</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tassin</surname><given-names>Alexandra</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Laoudj-Chenivesse</surname><given-names>Dalila</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wilton</surname><given-names>Steve D.</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Coppée</surname><given-names>Frédérique</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Belayew</surname><given-names>Alexandra</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="corresp" rid="cor1"><sup>*</sup></xref></contrib></contrib-group><aff id="aff1"><label>1</label><addr-line>Laboratory of Molecular Biology, University of Mons, Mons, Belgium</addr-line></aff><aff id="aff2"><label>2</label><addr-line>INSERM U1046, Le Centre Hospitalier Universitaire Arnaud de Villeneuve, Montpellier, France</addr-line></aff><aff id="aff3"><label>3</label><addr-line>Molecular Genetic Therapy Group, University of Western Australia, Nedlands, Australia</addr-line></aff><contrib-group><contrib contrib-type="editor"><name><surname>Chadwick</surname><given-names>Brian P.</given-names></name><role>Editor</role><xref ref-type="aff" rid="edit1"></xref></contrib></contrib-group><aff id="edit1">Florida State University, United States of America</aff><author-notes><corresp id="cor1">* E-mail: <email>alexandra.belayew@umons.ac.be</email></corresp><fn fn-type="con"><p>Conceived and designed the experiments: SDW FC AB. Performed the experiments: CV EA SC NS AT. Analyzed the data: CV EA SW FC AB. Contributed reagents/materials/analysis tools: AT DL SDW. Wrote the paper: CV FC SDW FC AB.</p></fn></author-notes><pub-date pub-type="collection"><year>2011</year></pub-date><pub-date pub-type="epub"><day>28</day><month>10</month><year>2011</year></pub-date><volume>6</volume><issue>10</issue><elocation-id>e26820</elocation-id><history><date date-type="received"><day>1</day><month>8</month><year>2011</year></date><date date-type="accepted"><day>3</day><month>10</month><year>2011</year></date></history><permissions><copyright-statement>Vanderplanck et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.</copyright-statement><copyright-year>2011</copyright-year></permissions><abstract><sec><title>Background</title><p>Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35 within the <italic>D4Z4</italic> repeat array in which we identified the <underline>d</underline>o<underline>u</underline>ble homeobo<underline>x</underline> 4 (<italic>DUX4)</italic> gene. We found stable DUX4 mRNAs only derived from the most distal <italic>D4Z4</italic> unit and unexpectedly extended to the flanking <italic>pLAM</italic> region that provided an intron and a polyadenylation signal. <italic>DUX4</italic> encodes a transcription factor expressed in FSHD but not control primary myoblasts or muscle biopsies. The DUX4 protein initiates a large transcription deregulation cascade leading to muscle atrophy and oxidative stress, which are FSHD key features.</p></sec><sec><title>Methodology/Principal Findings</title><p>We now show that transfection of myoblasts with a <italic>DUX4</italic> expression vector leads to atrophic myotube formation associated with the induction of E3 ubiquitin ligases (MuRF1 and Atrogin1/MAFbx) typical of muscle atrophy. DUX4 induces expression of downstream targets deregulated in FSHD such as mu-crystallin and TP53. We developed specific siRNAs and antisense oligonucleotides (AOs) targeting the <italic>DUX4</italic> mRNA. Addition of these antisense agents to primary FSHD myoblast cultures suppressed DUX4 protein expression and affected expression of the above-mentioned markers.</p></sec><sec><title>Conclusions/Significance</title><p>These results constitute a proof of concept for the development of therapeutic approaches for FSHD targeting <italic>DUX4</italic> expression.</p></sec></abstract><counts><page-count count="14"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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