Fig. 1: Knock-out of SMCHD1 or LRIF1 in control immortalized myoblasts have only a mild effect on DUX4 derepression. | Communications Biology

Fig. 1: Knock-out of SMCHD1 or LRIF1 in control immortalized myoblasts have only a mild effect on DUX4 derepression.

From: SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

Fig. 1: Knock-out of SMCHD1 or LRIF1 in control immortalized myoblasts have only a mild effect on DUX4 derepression.

a Gene structure of human SMCHD1 (top) and LRIF1 (bottom) and the position of the sgRNAs used for creating respective KOs (PAM sequence labeled in red). Two different LRIF1 isoforms are produced by differential splicing of exon 2 as denoted by different splicing patterns (blue = long isoform, red = short isoform). b RT-qPCR of DUX4, three of its target genes (MBD3L2, KHDC1L and ZSCAN4) in differentiated WT and knockout clones derived from immortalized control32U and control13U myogenic lines. Bars represent mean ± SEM. Each dot represents one clone (three independent clones per genotype in control32U line and five independent clones per genotype in control13U line). For comparison, RT-qPCR was also performed on two independent FSHD2 immortalized myogenic lines. Statistical significance between WT and KO groups was calculated by one-way ANOVA with Dunnett’s post hoc test (**p < 0.01, *p < 0.05, ns not significant).

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