A guide to investigating methylation in the human genome

Overview

Epigenetics, the study of chemical modifications that can alter phenotype without altering nucleotide sequence, is an ever-growing field of research. The most well-characterised and widely studied epigenetic modification in mammalian genomes, and especially in humans, is 5mC DNA methylation — the addition of a methyl group to a cytosine nucleotide. Methylation plays an important role in regulating gene expression, with aberrant methylation in gene promoters associated with disease.