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The XDP haplotype consists of multiple sequence variations in a region of the X chromosome containing TAF1, a large gene with at least 38 exons, and a Multiple Transcript System, MTS, comprised of five unconventional exons. A previous study identified an XDP-specific insertion of an SVA-type retrotransposon in intron 32 of TAF1, as well as a neural-specific TAF1 isoform, N-TAF1, which showed decreased expression in post-mortem XDP brain, compared to control tissue. Here we generated XDP patient and control fibroblasts and induced pluripotent stem cells (iPSCs) in order to further probe cellular defects associated with this disease. As initial validation of the model, we compared expression of TAF1 and MTS transcripts in XDP vs. control fibroblasts and iPSC-derived neural stem cells (NSCs). Compared to control cells, XDP fibroblasts exhibited decreased expression of TAF1 transcript fragments derived from exons 32-36, a region spanning the SVA insertion site. N-TAF1, which incorporates an alternative exon 34', was not expressed in fibroblasts, but was detectable in iPSC-differentiated NSCs at levels that were approximately 3-fold lower in patient cells than controls. These results support the previous findings that N-TAF1 expression is impaired in XDP, while further indicating that this aberrant transcription may occur in neural cells at relatively early stages of development that precede neurodegeneration.<\/jats:p>","DOI":"10.1242\/dmm.022590","type":"journal-article","created":{"date-parts":[[2016,1,15]],"date-time":"2016-01-15T12:56:18Z","timestamp":1452862578000},"source":"Crossref","is-referenced-by-count":32,"title":["Decreased N-TAF1 expression in X-Linked Dystonia-Parkinsonism patient-specific neural stem cells"],"prefix":"10.1242","author":[{"given":"Naoto","family":"Ito","sequence":"first","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"},{"name":"Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William T.","family":"Hendriks","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"},{"name":"Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jyotsna","family":"Dhakal","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"},{"name":"Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine A.","family":"Vaine","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"},{"name":"Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Liu","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"},{"name":"Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Shin","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"},{"name":"Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyle","family":"Shin","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"},{"name":"Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Wakabayashi-Ito","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"},{"name":"Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisela","family":"Dy","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trisha","family":"Multhaupt-Buell","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nutan","family":"Sharma","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xandra O.","family":"Breakefield","sequence":"additional","affiliation":[{"name":"The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA"},{"name":"Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA"},{"name":"Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, Charlestown, MA 02129, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. 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