DNA methylation in genomic imprinting, development, and disease.
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.
Paulsen
M
M
University of Cambridge, Department of Anatomy, Cambridge CB2 3DY, UK.
Ferguson-Smith
A C
AC
D000015:Abnormalities, Multiple / Q000196:embryology* / Q000235:genetics*; D017204:Angelman Syndrome / Q000235:genetics; D000818:Animals; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics; D002843:Chromatin; D018899:CpG Islands; D019175:DNA Methylation; D015870:Gene Expression; D018392:Genomic Imprinting; D006801:Humans; D051379:Mice; D011218:Prader-Willi Syndrome / Q000235:genetics
D002843:Chromatin