{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T06:24:50Z","timestamp":1789539890036,"version":"build-2803163510"},"reference-count":47,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T00:00:00Z","timestamp":1645056000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FOR2488"],"award-info":[{"award-number":["FOR2488"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["KI-1887\/2-1"],"award-info":[{"award-number":["KI-1887\/2-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004168","name":"University of L\u00fcbeck","doi-asserted-by":"publisher","award":["J14-2021"],"award-info":[{"award-number":["J14-2021"]}],"id":[{"id":"10.13039\/501100004168","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>X-linked dystonia\u2013parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-onset dystonia combined with parkinsonism. A SINE-VNTR-Alu (SVA) retrotransposon inserted in an intron of the TAF1 gene reduces its expression and alters splicing in XDP patient-derived cells. As a consequence, increased levels of the TAF1 intron retention transcript TAF1-32i can be found in XDP cells as compared to healthy controls. Here, we investigate the sequence of the deep intronic region included in this transcript and show that it is also present in cells from healthy individuals, albeit in lower amounts than in XDP cells, and that it undergoes degradation by nonsense-mediated mRNA decay. Furthermore, we investigate epigenetic marks (e.g., DNA methylation and histone modifications) present in this intronic region and the spanning sequence. Finally, we show that the SVA evinces regulatory potential, as demonstrated by its ability to repress the TAF1 promoter in vitro. Our results enable a better understanding of the disease mechanisms underlying XDP and transcriptional alterations caused by SVA retrotransposons.<\/jats:p>","DOI":"10.3390\/ijms23042231","type":"journal-article","created":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T20:25:45Z","timestamp":1645129545000},"page":"2231","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Transcriptional Alterations in X-Linked Dystonia\u2013Parkinsonism Caused by the SVA Retrotransposon"],"prefix":"10.3390","volume":"23","author":[{"given":"Jelena","family":"Pozojevic","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"},{"name":"Institute of Human Genetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4391-4182","authenticated-orcid":false,"given":"Shela Marie","family":"Algodon","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph Neos","family":"Cruz","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Trinh","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Br\u00fcggemann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"},{"name":"Department of Neurology, University Hospital Schleswig Holstein, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"La\u00df","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8409-3918","authenticated-orcid":false,"given":"Karen","family":"Gr\u00fctz","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susen","family":"Schaake","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronnie","family":"Tse","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6998-7913","authenticated-orcid":false,"given":"Veronica","family":"Yumiceba","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Kruse","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Schulz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varun K. A.","family":"Sreenivasan","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6387-1389","authenticated-orcid":false,"given":"Raymond L.","family":"Rosales","sequence":"additional","affiliation":[{"name":"The Hospital Neuroscience Institute, Department of Neurology and Psychiatry and The FMS-Research Center for Health Sciences, University of Santo Tomas, Manila 1008, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5317-7369","authenticated-orcid":false,"given":"Roland Dominic G.","family":"Jamora","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, College of Medicine-Philippine General Hospital, University of the Philippines Manila, Manila 1000, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cid Czarina E.","family":"Diesta","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Movement Disorders Clinic, Makati Medical Center, Makati City 1229, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Matschke","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Glatzel","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Seibler","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristian","family":"H\u00e4ndler","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandar","family":"Rakovic","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henriette","family":"Kirchner","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malte","family":"Spielmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"},{"name":"Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg\/L\u00fcbeck\/Kiel, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank J.","family":"Kaiser","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, Universit\u00e4t Duisburg-Essen, 45147 Essen, Germany"},{"name":"Essener Zentrum f\u00fcr Seltene Erkrankungen, Universit\u00e4tsmedizin Essen, 45147 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2102-3431","authenticated-orcid":false,"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Westenberger","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.3109\/00207454.2010.526728","article-title":"The Unique Phenomenology of Sex-Linked Dystonia Parkinsonism (XDP, DYT3, \u201cLubag\u201d)","volume":"121","author":"Lee","year":"2010","journal-title":"Int. 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