Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD)

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Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD)

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Title: Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD)
Author: Stadler, Guido; Rahimov, Fedik; King, Oliver D.; Chen, Jennifer C. J.; Robin, Jerome D.; Wagner, Kathryn R.; Shay, Jerry W.; Emerson, Charles P.; Wright, Woodring E.

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Citation: Stadler, Guido, Fedik Rahimov, Oliver D. King, Jennifer C. J. Chen, Jerome D. Robin, Kathryn R. Wagner, Jerry W. Shay, Charles P. Emerson, and Woodring E. Wright. 2013. “Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD).” Nature structural & molecular biology 20 (6): 671-678. doi:10.1038/nsmb.2571. http://dx.doi.org/10.1038/nsmb.2571.
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Abstract: Telomeres may regulate human disease by at least two independent mechanisms. 1) Replicative senescence occurs once short telomeres generate DNA damage signals that produce a barrier to tumor progression. 2) Telomere Position Effect (TPE) can change gene expression at intermediate telomere lengths in cultured human cells. We here report a human disease, facioscapulohumeral muscular dystrophy (FSHD) where telomere length may well contribute to its pathogenesis. FSHD is age-related and genetically only 25-60 kb from the end of chromosome 4q. We used a floxable telomerase to generate isogenic clones with different telomere lengths from patients and their unaffected siblings. DUX4, the primary candidate for FSHD pathogenesis, is upregulated >10-fold in FSHD myoblasts-myotubes with short versus long telomeres, and its expression is inversely proportional to telomere length. FSHD may represent a human disease in which TPE contributes to its age-related phenotype.
Published Version: doi:10.1038/nsmb.2571
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3711615/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:11879376
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