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. Author manuscript; available in PMC: 2019 Jul 1.
Published in final edited form as: J Med Genet. 2018 Mar 21;55(7):469–478. doi: 10.1136/jmedgenet-2017-105153

Figure 2. Primary myoblasts originating from 18p- individuals presenting with a combined 18p-and FSHD phenotype express DUX4.

Figure 2

(A) Relative expression of SMCHD1 normalized to GUSB in control and 18p- myoblasts and myotubes. Values of 18p- 3 were set to 1. (B) Western blot analysis of SMCHD1 and HSP90 in myotubes having one or two copies of SMCHD1. (C) Quantification of western blot signals by normalizing SMCHD1 signal intensities to HSP90 signal intensities. P value was calculated by unpaired t-test followed by Mann-Whitney test. * represents p<0.05 and ** represents p<0.01. (D) Expression levels of DUX4 normalized to GUSB in undifferentiated and differentiated primary myoblast cultures originating from control, from 3 patients with FSHD phenotype and a microdeletion on chromosome 18p without presenting any 18p- phenotype (open bars) and from 18p- 9 and18p- 10 (solid black bars). (E) DUX4 (green signal) immunofluorescence analysis in differentiated myotubes with myosin (red signal) as differentiation marker in primary myotubes originating from 18p- 9, 18p- 10 and FSHD1 3. High content screening was performed using a Nikon confocal microscope at 20× magnification and 2 representative images are shown for every cell culture.