Figure 1.

Overview and statistics of whole-genome bisulfite sequencing data of B-ALLs and normal pre-B cells. (A) Circular barplots of genome-wide average methylation levels in pre-B cells, ETV6-ALL and HD-ALL (from inside to outside, bin size = 5 Mb) showing slight demethylation of HD-ALL throughout genomic location. (B and C) Density plots of DNA methylation levels of all autosomal CpGs between B-ALL and pre-B cells. Individual CpG site methylation of pre-B cell and B-ALL are expressed on the X- and Y-axes. Hotter colors indicate higher density of data. (D) Counts of differentially methylated regions (DMRs; CpGs with methylation difference >20%) within genes or promoters. Most genes have more than one DMR inside the genic region or promoters, with some genes having numerous DMRs. HD-ALL had more de-DMRs than ETV6-ALL. (E) Relative distribution of DMRs according to specified regions. In both tumors, CpGs in promotes, 5′-body (0–0.1 in fractional region of gene body) and CpG island (CGI) are more enriched for de novo DMRs while CGI shelf and repeat regions were so for de-DMRs. Transcription factor (TF) binding sites and DNase hypersensitive sites (HS) are more enriched for de novo methylation in ETV6-ALL and for demethylation in HD-ALL.