Figure 3.

Adenine base editing of the DUX4 PAS reduces expression of DUX4 and its target genes in FSHD myogenic cells derived from monoclonal cultures

(A) mRNA levels as assessed by qRT-PCR of DUX4 and four DUX4 target genes (MBD3L2, ZSCAN4, TRIM43, and KHDC1L) in DUX4 PAS unedited versus edited subclones derived from two clones with different FSHD1 cell line origins (top). Genotypes of edited clones aligned to the reference WT sequence with the DUX4 PAS are highlighted in a red rectangle, and red colored bases denote mismatches (bottom). (B) mRNA levels of two myogenic markers (MYOG and MYH3) for unedited and edited clones from (A). Statistical significance was calculated with unpaired two-tailed t test (ns, non-significant; ∗p < 0.05, ∗∗p < 0.01, ∗∗∗p < 0.001, ∗∗∗∗p < 0.0001). Bars represent mean ± SEM, with individual clone expression values plotted as individual dots.