Christine A. Vaine

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.

This study shows that ZNF91 represses the XDP-SVA insertion and mitigates the molecular phenotype of XDP, with age-related ZNF91 expression decline contributing to disease progression.

This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.