Journal
EPIGENOMICS
Volume 7, Issue 2, Pages 247-265Publisher
FUTURE MEDICINE LTD
DOI: 10.2217/EPI.14.80
Keywords
AML; DNA methylation; DNMT; ICF syndrome; MBD; MeCP2; Rett syndrome; TET
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Funding
- Cancer Prevention and Research Institute of Texas (CPRIT) [R1108]
- Center for Cancer Epigenetics at The University of Texas MD Anderson Cancer Center
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DNA methylation plays a critical role in the regulation of chromatin structure and gene expression and is involved in a variety of biological processes. The levels and patterns of DNA methylation are regulated by both DNA methyltransferases (DNMT1, DNMT3A and DNMT3B) and 'demethylating' proteins, including the ten-eleven translocation (TET) family of dioxygenases (TET1, TET2 and TET3). The effects of DNA methylation on chromatin and gene expression are largely mediated by methylated DNA 'reader' proteins, including MeCP2. Numerous mutations in DNMTs, TETs and MeCP2 have been identified in cancer and developmental disorders, highlighting the importance of the DNA methylation machinery in human development and physiology. In this review, we describe these mutations and discuss how they may lead to disease phenotypes.
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