Genes with aberrant CTCF occupancy and changed gene expression in AML. (A-D) Integrative Genomics Viewer tracks visualize CTCF peaks from ChIP-seq results of AMLall and NBM for 4 genes: ZBTB7A (A), DOT1L (B), PDCD1 (C), and FOSL2 (D). Green boxes indicate differentially bound peaks, and pink boxes indicate a CpG detected by the EPIC array that overlaps with a DBC peak. (E) Expression levels of the 4 genes in panels A-D from RNA-seq data (*FDR <0.05, fold change >1.5). (F) Box plot of β-values for the CpG in FOSL2 (*FDR <0.05). (G) Gene expression by quantitative PCR following CTCF knockdown in K562 cells. Relative gene expression was calculated using 2−ΔΔCt against GAPDH, while scramble control was set to 1 (dashed line) and knockdown was normalized against the scramble control (P < .05; Student t test). (H) Hypothetical model of aberrant CTCF binding and how it relates to DNA methylation and gene expression in AML. CHR, chromosome.