Figure 4.

DNA methylation level at promoter regions of NFATC1, TBX20, NKX2-5 and GATA4 in healthy and affected twins obtained by WGBS (n = 1 each; coverage at CpGs ≥ 5×) as well as in right ventricular or atrial tissue of normal hearts and patients with TOF or VSD obtained by methyl-CpG binding domain protein-enriched genome sequencing (MBD-seq) (n = 7 for TOF-rv; n = 8 for VSD-ra; n = 3 for NH-rv; n = 4 for NH-ra). Promoters are defined as −2 kb/+500 bp of transcriptional start site. CGIs and CGI shores are indicated by orange line at the bottom. Moreover, binding sites of transcription factors (obtained from UCSC) are provided in gray or for cardiac factors in red. For WGBS, methylation at single CpG is provided. CGIs, CpG islands; NH, normal heart; H, healthy; RA, right atrium; RV, right ventricle; TFBS, transcription factor binding site; TOF, Tetralogy of Fallot; VSD, ventricular septal defect; WGBS, whole genome bisulfite sequencing.