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Using bioinformatic analysis of the genomic DUX4 locus, we have identified a number of putative G-quadruplexes (GQs) forming sequences. Their presence was confirmed in synthetic oligonucleotiode sequences derived from the enhancer, promoter and transcript of DUX4 through circular dichroism and nuclear magnetic resonance analysis. We further examined the binding affinity of a naturally occurring GQ stabilizing compound, berberine, to these non-canonical genetic structures using UV\u2013Vis and fluorescence spectroscopy. Subsequent in vitro study in FSHD patient myoblasts indicated that berberine treatment reduced DUX4 expression and also expression of genes normally switched on by DUX4. Further investigation in a mouse model overexpressing exogenous DUX4 confirmed the therapeutic effects of berberine in downregulating DUX4 protein expression, inhibiting muscle fibrosis, and consequently rescuing muscle function. Our data demonstrate for the first time that GQs are present in the DUX4 locus and that the GQ interactive ligand reduces DUX4 expression suggesting potential role of GQs in FSHD pathogenesis. Our work provides the basis of a novel therapeutic strategy for the treatment of FSHD.<\/jats:p>","DOI":"10.1093\/nar\/gkaa146","type":"journal-article","created":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T15:20:05Z","timestamp":1583248805000},"page":"4179-4194","source":"Crossref","is-referenced-by-count":28,"title":["G-quadruplex ligands mediate downregulation of DUX4 expression"],"prefix":"10.1093","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2131-8240","authenticated-orcid":false,"given":"Lukasz","family":"Ciszewski","sequence":"first","affiliation":[{"name":"Department of Biological Sciences, Royal Holloway-University of London, Egham, Surrey TW20 0EX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ngoc","family":"Lu-Nguyen","sequence":"first","affiliation":[{"name":"Department of Biological Sciences, Royal Holloway-University of London, Egham, Surrey TW20 0EX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Slater","sequence":"first","affiliation":[{"name":"Centre for Biomolecular Sciences, School of Chemistry, University Park, University of Nottingham, Nottingham NG7 2RD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Brennan","sequence":"first","affiliation":[{"name":"Centre for Biomolecular Sciences, School of Chemistry, University Park, University of Nottingham, Nottingham NG7 2RD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huw\u00a0E\u00a0L","family":"Williams","sequence":"first","affiliation":[{"name":"Centre for Biomolecular Sciences, School of Chemistry, University Park, University of Nottingham, Nottingham NG7 2RD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Dickson","sequence":"first","affiliation":[{"name":"Department of Biological Sciences, Royal Holloway-University of London, Egham, Surrey TW20 0EX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark S","family":"Searle","sequence":"first","affiliation":[{"name":"Centre for Biomolecular Sciences, School of Chemistry, University Park, University of Nottingham, Nottingham NG7 2RD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Popplewell","sequence":"first","affiliation":[{"name":"Department of Biological Sciences, Royal Holloway-University of London, Egham, Surrey TW20 0EX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,3,17]]},"reference":[{"key":"2020043017190794900_B1","article-title":"Facioscapulohumeral muscular dystrophy: a clinician's experience","volume-title":"Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology","author":"Padberg","year":"2004"},{"key":"2020043017190794900_B2","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1111\/j.1399-0004.2009.01158.x","article-title":"Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample","volume":"75","author":"Mostacciuolo","year":"2009","journal-title":"Clin. 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