Figure 9

Myocytes from FSHD1-nonmanifesting subjects are more refractory to expressing DUX4-fl than myocytes from FSHD1-affected relatives. Myocytes from four family cohorts (15, 28, 29, and 30) of FSHD1-affected subjects (black bars, ‘A’ subjects) and FSHD1-nonmanifesting subjects (gray bars, ‘B’ subjects) were treated in parallel with Decitabine (ADC), TSA, chaetocin (CH), or combinations of drug treatments, as indicated. DUX4-fl expression was analyzed by qRT-PCR, normalized to levels of 18S RNA, and plotted as fold expression compared to the untreated samples for each cell strain. Comparisons were between FSHD1-affected and FSHD1-nonmanifesting for each treatment (*P < 0.05; **P < 0.01, ***P < 0.001, Student’s t-test). All assays were repeated three times and each qRT-PCR was performed in triplicate.