DNA methylation in genomic imprinting, development, and disease

Abstract
Changes in DNA methylation profiles are common features of development and in a number of human diseases, such as cancer and imprinting disorders like Beckwith–Wiedemann and Prader–Willi/Angelman syndromes. This suggests that DNA methylation is required for proper gene regulation during development and in differentiated tissues and has clinical relevance. DNA methylation is also involved in X‐chromosome inactivation and the allele‐specific silencing of imprinted genes. This review describes possible mechanisms by which DNA methylation can regulate gene expression, using imprinted genes as examples. The molecular basis of methylation‐mediated gene regulation is related to changes in chromatin structure and appears to be similar for both imprinted and biallelically expressed genes. Copyright © 2001 John Wiley & Sons, Ltd.