{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Zhang W"],"funding":["NIBIB NIH HHS","NHGRI NIH HHS","NCI NIH HHS","NIH HHS"],"pubmed_abstract":["Human retrotransposon insertions are often associated with diseases. In the case of the neurodegenerative X-Linked Dystonia-Parkinsonism disease, a human-specific SINE-VNTR-<i>Alu</i> subfamily F retrotransposon was inserted in intron 32 of the <i>TAF1</i> gene. Here, we genomically rewrote a portion of the mouse <i>Taf1</i> allele with the corresponding 78-kb XDP patient derived <i>TAF1</i> allele. In mESCs, the presence of the intronic SVAs-rather than the hybrid gene structure-reduces hy<i>TAF1</i> levels. This leads to transcriptional downregulation of genes with TATA box enriched in their promoters and triggering apoptosis. Chromatin and transcriptome profiling revealed that intronic SVAs are actively transcribed, forming barriers that likely impede transcription elongation. In mice, "],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2025.10.07.680816"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12632633"],"repository":["biostudies-literature"],"pubmed_title":["Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism."],"pmcid":["PMC12632633"],"funding_grant_id":["P41 EB017183","P30 CA016087","RM1 HG009491","S10 OD018337"],"pubmed_authors":["Limberg KC","Kim SY","Appleby HL","Vaine CA","Boeke JD","Barriball K","Jiang Q","Ellis G","Maurano MT","Liddelow SA","Rahman N","Zhao Y","Zhang W","Wadghiri YZ","Prakash P","Brosh R","Wudzinska AM","Bragg DC","Capponi S","Timmers HTM","Markovic S","Mishkit O"],"additional_accession":[]},"is_claimable":false,"name":"Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism.","description":"Human retrotransposon insertions are often associated with diseases. In the case of the neurodegenerative X-Linked Dystonia-Parkinsonism disease, a human-specific SINE-VNTR-<i>Alu</i> subfamily F retrotransposon was inserted in intron 32 of the <i>TAF1</i> gene. Here, we genomically rewrote a portion of the mouse <i>Taf1</i> allele with the corresponding 78-kb XDP patient derived <i>TAF1</i> allele. In mESCs, the presence of the intronic SVAs-rather than the hybrid gene structure-reduces hy<i>TAF1</i> levels. This leads to transcriptional downregulation of genes with TATA box enriched in their promoters and triggering apoptosis. Chromatin and transcriptome profiling revealed that intronic SVAs are actively transcribed, forming barriers that likely impede transcription elongation. In mice, ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Oct","modification":"2026-06-02T03:13:45.545Z","creation":"2026-06-02T03:09:17.235Z"},"accession":"S-EPMC12632633","cross_references":{"pubmed":["41279153"],"doi":["10.1101/2025.10.07.680816"]}}