DNA Methylation

  • Carsten Carlberg
  • Ferdinand Molnár


Cytosine methylation of genomic DNA is the best-understood epigenetic mark. In most cases, DNA methylation leads to the formation of heterochromatin and subsequent gene silencing. Coordinated DNA methylation and its recognition via methylation-sensitive DNA-binding proteins have a large impact on health, such as genetic imprinting, i.e., the expression of a gene in a parent-of-origin-specific manner. In contrast, a disorganized DNA methylome contributes to tumorigenesis and thus to cancer.


DNA methylation CpG islands DNA methyltransferase TET proteins 5mC modifications Gene silencing Insulator CTCF Genetic imprinting X chromosome inactivation Xist Imprinting disorders Hyper-methylation 

Further Reading

  1. Carlberg C, Molnár F (2016) Mechanisms of gene regulation. Springer Textbook ISBN: 978-94-007-7904-4.Google Scholar
  2. Du J, Johnson LM, Jacobsen SE, Patel DJ (2015) DNA methylation pathways and their crosstalk with histone methylation. Nat Rev Mol Cell Biol 16:519–532CrossRefGoogle Scholar
  3. Krijger PH, de Laat W (2016) Regulation of disease-associated gene expression in the 3D genome. Nat Rev. Mol Cell Biol 17:771–782CrossRefGoogle Scholar
  4. Luo C, Hajkova P, Ecker JR (2018) Dynamic DNA methylation: in the right place at the right time. Science 361:1336–1340CrossRefGoogle Scholar
  5. Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A (2019) Genomic imprinting disorders: lessons on how genome, epigenome and environment interact. Nat Rev. Genet 20:235–248CrossRefGoogle Scholar
  6. Schübeler D (2015) Function and information content of DNA methylation. Nature 517:321–326CrossRefGoogle Scholar
  7. Wu X, Zhang Y (2017) TET-mediated active DNA demethylation: mechanism, function and beyond. Nat Rev. Genet 18:517–534CrossRefGoogle Scholar
  8. Zhu H, Wang G, Qian J (2016) Transcription factors as readers and effectors of DNA methylation. Nat Rev. Genet 17:551–565CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Carsten Carlberg
    • 1
  • Ferdinand Molnár
    • 2
  1. 1.Institute of BiomedicineUniversity of Eastern FinlandKuopioFinland
  2. 2.Department of BiologyNazarbayev UniversityNur-SultanKazakhstan

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