Article

Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism

2025-10-08

Abstract excerpt

<h4>Summary</h4> Human retrotransposon insertions are often associated with diseases. In the case of the neurodegenerative X-Linked Dystonia-Parkinsonism disease, a human-specific SINE-VNTR- Alu subfamily F retrotransposon was inserted in intron 32 of the TAF1 gene. Here, we genomically rewrote a portion of the mouse Taf1 allele with the corresponding 78-kb XDP patient derived TAF1 allele. In mESCs, the prese...

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Literature Corpus work: aa6029ef-8b03-56ea-873e-49479c1c1f29
DOI: 10.1101/2025.10.07.680816

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