Figure 4.
Correlation between CpG methylation and gene expression depends on genomic context. (A,B) CpGs <2000 bp away from the transcription start site (TSS) are negatively correlated with expression, regardless of whether they reside in a CpG island. (C) CpGs that are in gene bodies far from the TSS (>2000 bp away) and reside in CpG islands can be either positively or negatively correlated with gene expression. (D) CpGs that are in the gene body far from the TSS (>2000 bp away) and do not reside in CpG islands and are positively correlated with gene expression. (E) Model of relationship between methylation and gene expression. Expressed genes are associated with unmethylated promoters, methylated gene bodies, and unmethylated intragenic CpG island EP300-bound enhancers. (F) Silenced genes are associated with methylated promoters, unmethylated gene bodies, and methylated intragenic CpG island enhancer elements.