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dc.contributor.authorStadler, Guido
dc.contributor.authorKing, Oliver D.
dc.contributor.authorRobin, Jerome D.
dc.contributor.authorShay, Jerry W.
dc.contributor.authorWright, Woodring E.
dc.date2022-08-11T08:09:28.000
dc.date.accessioned2022-08-23T16:31:58Z
dc.date.available2022-08-23T16:31:58Z
dc.date.issued2013-08-14
dc.date.submitted2020-06-09
dc.identifier.citation<p>Stadler G, King OD, Robin JD, Shay JW, Wright WE. Facioscapulohumeral muscular dystrophy: Are telomeres the end of the story? Rare Dis. 2013 Aug 14;1:e26142. doi: 10.4161/rdis.26142. PMID: 25003004; PMCID: PMC3927483. <a href="https://doi.org/10.4161/rdis.26142">Link to article on publisher's site</a></p>
dc.identifier.issn2167-5511 (Linking)
dc.identifier.doi10.4161/rdis.26142
dc.identifier.pmid25003004
dc.identifier.urihttp://hdl.handle.net/20.500.14038/37777
dc.description.abstractFacioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and allows transcription of the DUX4 gene. DUX4 mRNA is stable only when transcribed from certain haplotypes that contain a polyadenylation signal. DUX4 protein is hypothesized to cause FSHD by mediating cytotoxicity and impairing skeletal muscle differentiation. We recently showed in a cell culture model that DUX4 expression is regulated by telomere length, suggesting that telomere shortening during aging may be partially responsible for the delayed onset and progressive nature of FSHD. We here put our data in the context of other recent findings arguing that progressive telomere shortening may play a critical role in FSHD but is not the whole story and that the current disease model needs additional refinement.
dc.language.isoen_US
dc.relation<p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=25003004&dopt=Abstract">Link to Article in PubMed</a></p>
dc.rightsCopyright © 2013 Landes Bioscience. This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited.
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/
dc.subjectfacioscapulohumeral muscular dystrophy
dc.subjectFSHD
dc.subjecttelomeres
dc.subjectcomplex genetics
dc.subjectD4Z4 contractions
dc.subjectDUX4
dc.subjectcompound heterozygotes
dc.subjectmultifactorial
dc.subjectCongenital, Hereditary, and Neonatal Diseases and Abnormalities
dc.subjectGenetics
dc.subjectMusculoskeletal Diseases
dc.subjectNervous System Diseases
dc.subjectNeurology
dc.subjectNeuroscience and Neurobiology
dc.titleFacioscapulohumeral muscular dystrophy: Are telomeres the end of the story
dc.typeArticle
dc.source.journaltitleRare diseases (Austin, Tex.)
dc.source.volume1
dc.identifier.legacyfulltexthttps://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1459&amp;context=neuro_pp&amp;unstamped=1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/neuro_pp/458
dc.identifier.contextkey18032510
refterms.dateFOA2022-08-23T16:31:58Z
html.description.abstract<p>Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and allows transcription of the DUX4 gene. DUX4 mRNA is stable only when transcribed from certain haplotypes that contain a polyadenylation signal. DUX4 protein is hypothesized to cause FSHD by mediating cytotoxicity and impairing skeletal muscle differentiation. We recently showed in a cell culture model that DUX4 expression is regulated by telomere length, suggesting that telomere shortening during aging may be partially responsible for the delayed onset and progressive nature of FSHD. We here put our data in the context of other recent findings arguing that progressive telomere shortening may play a critical role in FSHD but is not the whole story and that the current disease model needs additional refinement.</p>
dc.identifier.submissionpathneuro_pp/458
dc.contributor.departmentKing Lab
dc.contributor.departmentDepartment of Cell and Developmental Biology
dc.contributor.departmentWellstone Program
dc.source.pagese26142


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Copyright © 2013 Landes Bioscience. This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited.
Except where otherwise noted, this item's license is described as Copyright © 2013 Landes Bioscience. This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited.