Active DNA demethylation in development, human disease, and cancer

Rossella Tricarico, Alfonso Bellacosa

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

1 Scopus citations

Abstract

Methylation of cytosine in DNA has long been known as an important mechanism of transcriptional regulation. While DNA methyltransferases have been well characterized, the existence of enzymes involved in cytosine demethylation has been questioned. However, in the past few years, through a convergence of biochemical and genetic studies, active DNA demethylation has been finally recognized as an important mechanism of epigenetic regulation. Here, we will review the biological processes that rely on active DNA demethylation, the relevant DNA demethylating activities, and the corresponding biochemical pathways. We will then describe the role of DNA demethylating factors in development and their alterations in human disease and cancer.

Original languageEnglish
Title of host publicationDNA Replication, Recombination, and Repair
Subtitle of host publicationMolecular Mechanisms and Pathology
PublisherSpringer Japan
Pages517-548
Number of pages32
ISBN (Electronic)9784431558736
ISBN (Print)9784431558712
DOIs
StatePublished - Jan 1 2016

Keywords

  • 5-carboxylcytosine
  • 5-formylcytosine
  • 5-hydroxymethylcytosine
  • Cancer
  • Development
  • Dna demethylation
  • Tdg
  • Tet

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