Table 2.
DNA methylation in different genomic compartments in normal and cancer and its consequence.
| Compartment | Methylation in normal | Methylation in cancer | Consequence |
|---|---|---|---|
| Promoter CpG island | 1–2% methylated, corresponding to X-inactivation, imprinting and germ cell specific expression | Increase methylation of 1–10% of loci | Gene silencing |
| Non-promoter CpG island | Variably methylated, often tissue specific | Increased methylation | Unknown |
| non-CpG island promoter | Methylated or unmethylated | Methylated or unmethylated | Associated with expression but may be secondary to transcription programs |
| Gene body | Methylated in active genes | Poorly studied | May be secondary to transcription programs |
| Retrotransposons | Mostly methylated | Frequently hypomethylated | Chromosome instability |