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. 2014 Jul 15;23(24):6448–6457. doi: 10.1093/hmg/ddu365

Figure 1.

Figure 1.

DNMT3B mutations lead to global DNA hypomethylation. (A). Schematic of the compound heterozygous point mutations in DNMT3B from two separate ICF1 syndrome patients. (B). Bar plot of LC–MS/MS-MRM measurements of total methylcytosine (5mC) levels in various cell types. 5mC levels are expressed as percentage of the total cytosine pool. Data represent mean and SDs from triplicate analyses. (C) Bar chart showing global methylation in CG, CHG and CHH motifs as measured by whole-genome shotgun bisulfite sequencing. Levels of CG (white), CHG (yellow) or CHH (blue) methylation are expressed as a percentage of total shared cytosine residues in all four cell lines (n = 9 766 941 CGs; n = 46 480 622 CHGs; and n = 117 356 835 CHHs).