Genetic alterations of DNA methylation machinery in human diseases

  • Tewfik Hamidi
    Department of Epigenetics & Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Science Park – Research Division, 1808 Park Road 1C, P. O. Box 389, Smithville, TX 78957, USA
  • Anup Kumar Singh
    Department of Epigenetics & Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Science Park – Research Division, 1808 Park Road 1C, P. O. Box 389, Smithville, TX 78957, USA
  • Taiping Chen
    Department of Epigenetics & Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Science Park – Research Division, 1808 Park Road 1C, P. O. Box 389, Smithville, TX 78957, USA

抄録

<jats:p> 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. </jats:p>

収録刊行物

  • Epigenomics

    Epigenomics 7 (2), 247-265, 2015-04

    Future Medicine Ltd

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