Fig. 5

SMCHD1 occupancy over the KCNQ1 intronic region is sensitive to 5-azaC treatment. a Schematic illustration representing SMCHD1 binding peaks in SH-SY5Y vehicle treated cells (blue) and cells treated with 5-azaC (red) over an intronic region of KCNQ1 gene. The red triangle indicates the region examined in Fig. 5B by ChIP-PCR. b Left, ChIP-PCR of SMCHD1 in control (vehicle treated) and 5-azaC treated samples over KCNQ1 intronic region. Right, percent DNA methylation of CpG sites located within SMCHD1 binding sites following 5-azaC treatment, CpG1: chr11: 2,614,727. CpG2: chr11:2,614,759. CpG 3 chr11:2,614,798. c Left, mRNA quantification of KCNQ1 in SH-SY5Y (ctrl) and SMCHD1 KO cells (KO). The copy numbers are relative to β-actin cDNA levels. Right, SMCHD1 and KCNQ1 protein levels following SMCHD1 KO in SY-SY5Y cells. β-tubulin was used as an internal control