Gwen Ellis

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

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.

Synthetic genomic dissection of enhancer context sensitivity and synergy

The paper identifies context-dependent enhancer synergy in mouse embryonic stem cells, showing that enhancers can significantly boost neighboring DHS activity and that this synergy depends on distance and specific transcription factor sequences.

Genomic context sensitizes regulatory elements to genetic disruption

The paper investigates how genomic context affects enhancer function by analyzing the murine Igf2/H19 locus and shows that regulatory elements depend on their native surroundings.

Synthetic regulatory genomics uncovers enhancer context dependence at the Sox2 locus

The paper uses synthetic regulatory genomics to study Sox2 expression in mESCs, finding that some enhancer regions are context-dependent and can enhance core regulatory elements.