Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism
Weimin Zhang, Yu Zhao, Priya Prakash, Heather L. Appleby, Kelly Barriball, Simona Capponi, Qingwen Jiang, Aleksandra M. Wudzinska, Christine A. Vaine, Gwen Ellis, Neha Rahman, Stefan Markovic, Orin Mishkit, Kerry C. Limberg, Matthew T. Maurano, , Jef D. Boeke
The paper genomically rewrote a mouse Taf1 allele with a human XDP patient-derived TAF1 allele, revealing that intronic SVA retrotransposons reduce TAF1 levels and cause neurodegeneration.
bioRxiv · Oct 7, 2025 · PreprintGenetics