{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nicoletto G"],"funding":["Ligue Contre le Cancer","Deutsche Forschungsgemeinschaft","FEDER","FSE","European Joint Programme on Rare Diseases","Collaborative Center for X-linked Dystonia-Parkinsonism"],"pagination":["11571-11586"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12053379"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["52(19)"],"pubmed_abstract":["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-VNTR-Alu (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) w"],"journal":["Nucleic acids research"],"pubmed_title":["G-quadruplexes in an SVA retrotransposon cause aberrant TAF1 gene expression in X-linked dystonia parkinsonism."],"pmcid":["PMC12053379"],"funding_grant_id":["EJPRD20-191","213249687-SFB1064","LSP 189540","213249687–SFB1064"],"pubmed_authors":["Vaine CA","Cernilogar FM","Terreri M","Nicoletto G","Monchaud D","Shcherbakova I","Penney EB","Ruggiero E","Cottini MV","Bragg DC","Maurizio I","Schotta G","Gallina I","Richter SN"],"additional_accession":[]},"is_claimable":false,"name":"G-quadruplexes in an SVA retrotransposon cause aberrant TAF1 gene expression in X-linked dystonia parkinsonism.","description":"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-VNTR-Alu (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) w","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2026-07-15T12:04:59.421Z","creation":"2026-07-04T03:12:57.331Z"},"accession":"S-EPMC12053379","cross_references":{"pubmed":["39287133"],"doi":["10.1093/nar/gkae797"]}}