Fig. 5

Catalytic activity (a) and dimerization capacity (b) in SMCHD1(24–580) wild-type (WT) and mutant constructs. a Arhinia and FSHD2 variants have variable effects on ATPase activity as determined by quantitation of released inorganic phosphate (γ-³²_Pi =γ-³²P / γ-³²P + [γ-³²P]ATP). Data is presented as fold-change in activity (mean ± 1 SD) of mutant constructs relative to WT at the 60-min time point. The catalytically deficient mutant E147A is shown as a negative control. b Results of native PAGE assay demonstrating dimerization is intact in arhinia mutant constructs but diminished in FSHD2 mutant constructs. Data are presented in box-plot form where horizontal lines represent maximum, 75th percentile, median, 25th percentile, and minimum, respectively, from top to bottom. See Supplementary Fig. 6 for raw data. Data from both experiments reflects two technical replicates from two independent experiments. *P < 0.05 vs. WT