Fig. 10

Induction of nuclear aggregates of FUS by endogenous expression of DUX4-FL in FSHD myotubes. a–e” Nuclei were double stained for endogenous DUX4-FL (red, top row) and endogenous FUS (green, lower row) in FSHD myotubes. The five nuclei illustrate a range of staining patterns ranging from mostly large, though non-overlapping, puncta for both proteins (e.g., a, b) to more uniform staining or very small puncta (e.g., d, e). f Quantitation of blind assays in which observers classified FUS staining patterns in DUX4-negative and DUX4-positive myotube nuclei as (i) mostly uniform (as illustrated in Fig. 7e–i), (ii) consisting largely of punctate staining (e.g., as in a, b of this figure), or (iii) showing a low intensity signal or no signal (e.g., as in Fig. 9d). Expression of DUX4-FL was associated with a significantly increased percentage of nuclei in which FUS showed a punctate staining indicative of aggregation or a loss of signal intensity. Bar in a = 10 μm