Genome-wide loss of 5-hmC is a novel epigenetic feature of Huntington's disease

Hum Mol Genet. 2013 Sep 15;22(18):3641-53. doi: 10.1093/hmg/ddt214. Epub 2013 May 12.

Abstract

5-Hydroxymethylcytosine (5-hmC) may represent a new epigenetic modification of cytosine. While the dynamics of 5-hmC during neurodevelopment have recently been reported, little is known about its genomic distribution and function(s) in neurodegenerative diseases such as Huntington's disease (HD). We here observed a marked reduction of the 5-hmC signal in YAC128 (yeast artificial chromosome transgene with 128 CAG repeats) HD mouse brain tissues when compared with age-matched wild-type (WT) mice, suggesting a deficiency of 5-hmC reconstruction in HD brains during postnatal development. Genome-wide distribution analysis of 5-hmC further confirmed the diminishment of the 5-hmC signal in striatum and cortex in YAC128 HD mice. General genomic features of 5-hmC are highly conserved, not being affected by either disease or brain regions. Intriguingly, we have identified disease-specific (YAC128 versus WT) differentially hydroxymethylated regions (DhMRs), and found that acquisition of DhmRs in gene body is a positive epigenetic regulator for gene expression. Ingenuity pathway analysis (IPA) of genotype-specific DhMR-annotated genes revealed that alternation of a number of canonical pathways involving neuronal development/differentiation (Wnt/β-catenin/Sox pathway, axonal guidance signaling pathway) and neuronal function/survival (glutamate receptor/calcium/CREB, GABA receptor signaling, dopamine-DARPP32 feedback pathway, etc.) could be important for the onset of HD. Our results indicate that loss of the 5-hmC marker is a novel epigenetic feature in HD, and that this aberrant epigenetic regulation may impair the neurogenesis, neuronal function and survival in HD brain. Our study also opens a new avenue for HD treatment; re-establishing the native 5-hmC landscape may have the potential to slow/halt the progression of HD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Methylcytosine / analogs & derivatives
  • Animals
  • Brain / metabolism*
  • Brain / physiopathology
  • Corpus Striatum / metabolism*
  • Corpus Striatum / physiopathology
  • Cytosine / analogs & derivatives*
  • Cytosine / metabolism
  • DNA Methylation
  • Disease Models, Animal
  • Epigenomics
  • Humans
  • Huntington Disease / genetics*
  • Huntington Disease / metabolism*
  • Huntington Disease / physiopathology
  • Mice
  • Mice, Transgenic
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Sequence Alignment
  • Sequence Analysis, DNA

Substances

  • Nerve Tissue Proteins
  • 5-hydroxymethylcytosine
  • 5-Methylcytosine
  • Cytosine