DNA methylation in genomic imprinting, development, and disease

J Pathol. 2001 Sep;195(1):97-110. doi: 10.1002/path.890.


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.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / embryology*
  • Abnormalities, Multiple / genetics*
  • Angelman Syndrome / genetics
  • Animals
  • Beckwith-Wiedemann Syndrome / genetics
  • Chromatin
  • CpG Islands
  • DNA Methylation*
  • Gene Expression
  • Genomic Imprinting*
  • Humans
  • Mice
  • Prader-Willi Syndrome / genetics


  • Chromatin