ZFIN Image: Xue et al., 2022, Fig. 6

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Fig. 6

Germline, but not adult, SMCHD1 deficiency leads to HOX dysregulation in human cutaneous fibroblasts.

a RNA-seq performed on controls and FSHD2 patient fibroblasts reveal dysregulations of HOX expression when SMCHD1 was mutated in the germline. b Schematic of experimental design to determine whether HOX dysregulation is the result of germline or somatic SMCHD1 haploinsufficiency. SMCHD1 was CRISPR/ Cas9-inactivated ex vivo in control fibroblasts using two distinct guide RNAs (KO1 and KO2). Yellow box represents maternal contribution of SMCHD1 which diminishes rapidly post-fertilization. c Western blot in fibroblasts cell extract show successful knockout of SMCHD1, resulting in protein-null alleles. FSHD2 cells used here are + /V1826Gfs*19. d qPCR shows that, unlike in FSHD2 cells, somatic knockout of SMCHD1 in adult cells does not lead to the upregulation of HOX. P values were calculated by 2-tailed unpaired Student’s t test. *p < 0.05, **p < 0.01, ***p < 0.001. Data are presented as mean values ± SD.

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