5-hmC in the brain is abundant in synaptic genes and shows differences at the exon-intron boundary

Nat Struct Mol Biol. 2012 Oct;19(10):1037-43. doi: 10.1038/nsmb.2372. Epub 2012 Sep 9.

Abstract

The 5-methylcytosine (5-mC) derivative 5-hydroxymethylcytosine (5-hmC) is abundant in the brain for unknown reasons. Here we characterize the genomic distribution of 5-hmC and 5-mC in human and mouse tissues. We assayed 5-hmC by using glucosylation coupled with restriction-enzyme digestion and microarray analysis. We detected 5-hmC enrichment in genes with synapse-related functions in both human and mouse brain. We also identified substantial tissue-specific differential distributions of these DNA modifications at the exon-intron boundary in human and mouse. This boundary change was mainly due to 5-hmC in the brain but due to 5-mC in non-neural contexts. This pattern was replicated in multiple independent data sets and with single-molecule sequencing. Moreover, in human frontal cortex, constitutive exons contained higher levels of 5-hmC relative to alternatively spliced exons. Our study suggests a new role for 5-hmC in RNA splicing and synaptic function in the brain.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Methylcytosine / metabolism
  • Alternative Splicing
  • Animals
  • Brain / physiology*
  • Cell Line
  • Cytosine / analogs & derivatives*
  • Cytosine / metabolism
  • Glucosyltransferases / metabolism
  • Humans
  • Introns
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Microarray Analysis
  • Organ Specificity
  • RNA Splicing
  • Reproducibility of Results
  • Synapses / genetics*
  • Synapses / metabolism

Substances

  • 5-hydroxymethylcytosine
  • 5-Methylcytosine
  • Cytosine
  • Glucosyltransferases

Associated data

  • GEO/GSE40158
  • GEO/GSE40166
  • GEO/GSE40167