{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T17:36:08Z","timestamp":1790444168346,"version":"4.1.0"},"reference-count":84,"publisher":"Oxford University Press (OUP)","issue":"19","license":[{"start":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T00:00:00Z","timestamp":1726531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Collaborative Center for X-linked Dystonia-Parkinsonism"},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["213249687\u2013SFB1064"],"award-info":[{"award-number":["213249687\u2013SFB1064"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Joint Programme on Rare Diseases","award":["EJPRD20-191"],"award-info":[{"award-number":["EJPRD20-191"]}]},{"DOI":"10.13039\/501100002924","name":"FEDER","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010137","name":"FSE","doi-asserted-by":"publisher","award":["LSP 189540"],"award-info":[{"award-number":["LSP 189540"]}],"id":[{"id":"10.13039\/100010137","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004099","name":"Ligue Contre le Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004099","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>G-quadruplexes (G4s) are non-canonical nucleic acid structures that form in guanine (G)-rich genomic regions. X-linked dystonia parkinsonism (XDP) is an inherited neurodegenerative disease in which a SINE\u2013VNTR\u2013Alu (SVA) retrotransposon, characterised by amplification of a G-rich repeat, is inserted into the coding sequence of TAF1, a key partner of RNA polymerase II. XDP SVA alters TAF1 expression, but the cause of this outcome in XDP remains unknown. To assess whether G4s form in XDP SVA and affect TAF1 expression, we first characterised bioinformatically predicted XDP SVA G4s in vitro. We next showed that highly stable G4s can form and stop polymerase amplification at the SVA region from patient-derived fibroblasts and neural progenitor cells. Using chromatin immunoprecipitazion (ChIP)\u00a0with an anti-G4 antibody coupled to\u00a0sequencing or\u00a0quantitative\u00a0PCR, we showed that XDP SVA G4s are folded even when embedded in a chromatin context in patient-derived cells. Using the G4 ligands BRACO-19 and quarfloxin and total RNA-sequencing\u00a0analysis, we showed that stabilisation of the XDP SVA G4s reduces TAF1 transcripts downstream and around the SVA, and increases upstream transcripts, while destabilisation using the G4 unfolder\u00a0PhpC\u00a0increases TAF1 transcripts. Our data indicate that G4 formation in the XDP SVA is a major cause of aberrant TAF1 expression, opening the way for the development of strategies to unfold G4s and potentially target the disease.<\/jats:p>","DOI":"10.1093\/nar\/gkae797","type":"journal-article","created":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T19:05:09Z","timestamp":1726599909000},"page":"11571-11586","source":"Crossref","is-referenced-by-count":24,"title":["G-quadruplexes in an SVA retrotransposon cause aberrant TAF1 gene expression in X-linked dystonia parkinsonism"],"prefix":"10.1093","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9428-4205","authenticated-orcid":false,"given":"Giulia","family":"Nicoletto","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine, University of Padua , via A. Gabelli 63,\u00a035121 Padua ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianna","family":"Terreri","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Padua , via A. Gabelli 63,\u00a035121 Padua ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Maurizio","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Padua , via A. Gabelli 63,\u00a035121 Padua ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0989-4074","authenticated-orcid":false,"given":"Emanuela","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Padua , via A. Gabelli 63,\u00a035121 Padua ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo\u00a0M","family":"Cernilogar","sequence":"additional","affiliation":[{"name":"Department of Science and Technological Innovation, University of Piemonte Orientale , Viale Teresa Michel 11,\u00a015121,\u00a0 Alessandria ,","place":["Italy"]},{"name":"Molecular Biology Division, Biomedical Center, Ludwig Maximilian University of Munich , Gro\u00dfhaderner Strasse 9,\u00a082152 Planegg-Martinsried ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine\u00a0A","family":"Vaine","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital , Building 149 13th Street,\u00a0 Charlestown , MA\u00a002129,\u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Vittoria","family":"Cottini","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Padua , via A. Gabelli 63,\u00a035121 Padua ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Shcherbakova","sequence":"additional","affiliation":[{"name":"Molecular Biology Division, Biomedical Center, Ludwig Maximilian University of Munich , Gro\u00dfhaderner Strasse 9,\u00a082152 Planegg-Martinsried ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen\u00a0B","family":"Penney","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital , Building 149 13th Street,\u00a0 Charlestown , MA\u00a002129,\u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Gallina","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Padua , via A. Gabelli 63,\u00a035121 Padua ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Monchaud","sequence":"additional","affiliation":[{"name":"Institut de Chimie Moleculaire de l'Universit\u00e9 de Bourgogne, ICMUB CNRS UMR6302 , 9, Rue Alain Savary,\u00a021078\u00a0 Dijon ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00a0Cristopher","family":"Bragg","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital , Building 149 13th Street,\u00a0 Charlestown , MA\u00a002129,\u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4940-6135","authenticated-orcid":false,"given":"Gunnar","family":"Schotta","sequence":"additional","affiliation":[{"name":"Molecular Biology Division, Biomedical Center, Ludwig Maximilian University of Munich , Gro\u00dfhaderner Strasse 9,\u00a082152 Planegg-Martinsried ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5446-9029","authenticated-orcid":false,"given":"Sara\u00a0N","family":"Richter","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Padua , via A. 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