Functions of DNA methylation and hydroxymethylation in mammalian development

Curr Top Dev Biol. 2013;104:47-83. doi: 10.1016/B978-0-12-416027-9.00002-4.


DNA methylation occurs at cytosines, predominantly in the CpG dinucleotide context and is a key epigenetic regulator of embryogenesis and stem-cell differentiation in mammals. The genomic patterns of 5-methylcytosine are extensively reprogrammed during early embryonic development as well as in the germ-cell lineage. Thanks to improvements in high-throughput mapping technologies, it is now possible to characterize the dynamics of this epigenetic mark at the genome scale. DNA methylation plays multiple roles during development and serves to establish long-term gene silencing. In 2009, it was revealed that 5-hydroxymethylcytosine (5hmC) is another prominent cytosine modification catalyzed by the enzymes of the TET family and abundant in certain cell types. 5hmC has been thought to serve as an intermediate in the reaction of DNA demethylation or act as a signal for chromatin factors. Here, we review the current knowledge on the roles of these DNA epigenetic marks in development, epigenetic reprogramming, and pluripotency.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • 5-Methylcytosine / analogs & derivatives
  • Animals
  • Cytosine / analogs & derivatives*
  • Cytosine / metabolism
  • DNA Methylation / genetics*
  • Embryonic Development / genetics
  • Gene Expression Regulation, Developmental
  • Genome / genetics
  • Humans
  • Mammals / genetics*
  • Mammals / growth & development*


  • 5-hydroxymethylcytosine
  • 5-Methylcytosine
  • Cytosine