Tissue-specific distribution and dynamic changes of 5-hydroxymethylcytosine in mammalian genomes

J Biol Chem. 2011 Jul 15;286(28):24685-93. doi: 10.1074/jbc.M110.217083. Epub 2011 May 24.

Abstract

Cytosine residues in the vertebrate genome are enzymatically modified to 5-methylcytosine, which participates in transcriptional repression of genes during development and disease progression. 5-Methylcytosine can be further enzymatically modified to 5-hydroxymethylcytosine by the TET family of methylcytosine dioxygenases. Analysis of 5-methylcytosine and 5-hydroxymethylcytosine is confounded, as these modifications are indistinguishable by traditional sequencing methods even when supplemented by bisulfite conversion. Here we demonstrate a simple enzymatic approach that involves cloning, identification, and quantification of 5-hydroxymethylcytosine in various CCGG loci within murine and human genomes. 5-Hydroxymethylcytosine was prevalent in human and murine brain and heart genomic DNAs at several regions. The cultured cell lines NIH3T3 and HeLa both displayed very low or undetectable amounts of 5-hydroxymethylcytosine at the examined loci. Interestingly, 5-hydroxymethylcytosine levels in mouse embryonic stem cell DNA first increased then slowly decreased upon differentiation to embryoid bodies, whereas 5-methylcytosine levels increased gradually over time. Finally, using a quantitative PCR approach, we established that a portion of VANGL1 and EGFR gene body methylation in human tissue DNA samples is indeed hydroxymethylation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Methylcytosine / analogs & derivatives
  • Animals
  • Brain / metabolism
  • CpG Islands / physiology*
  • Cytosine / analogs & derivatives*
  • Cytosine / metabolism
  • DNA Methylation / physiology*
  • Embryonic Stem Cells / cytology
  • Embryonic Stem Cells / metabolism
  • Genome, Human / physiology*
  • HeLa Cells
  • Humans
  • Mice
  • Myocardium / metabolism
  • NIH 3T3 Cells
  • Organ Specificity

Substances

  • 5-hydroxymethylcytosine
  • 5-Methylcytosine
  • Cytosine