• Epigenetic factors such as DNA methylation play an important role in regulating gene expression. • Aberrant DNA methylation is a feature of a number of important human diseases. • Epigenetic changes are common in human cancer cells. Learning objectives: • To appreciate the role of DNA methylation as a regulator of gene expression. • To understand the role of DNA methylation in normal gene function. • To illustrate how DNA methylation is implicated in the regulation of genomic imprinting. • To draw attention to how altered DNA methylation can result in human diseases such as imprinting disorders and cancer. Ethical issues: • What are the implications for assisted reproductive technologies? • There are possible difficulties in interpreting the clinical significance of alterations in DNA methylation. Please cite this article as: Lim DHK, Maher ER. DNA methylation: a form of epigenetic control of gene expression. The Obstetrician & Gynaecologist 2010;12:37–42.
