Table 6.
Epigenetic dysregulation in Huntington’s disease: DNA (de)methylation.
| Gene | Regulation | Epigenetic modification | Observed in | Sample size | Approach | Methods | Reference |
|---|---|---|---|---|---|---|---|
| Ap-1 | ↑↑ | Methylation of | Mouse striatal neurons | - | Targeted | RRBS, MeDIP-Seq, | Ng et al., 2013 |
| Sox2 | ↑↑ | promoter region | overexpressing HTT | (10 loci) | ChIP-Seq Assay | ||
| Pax6 | ↑↑ | ||||||
| Nes | ↑↑ | ||||||
| ≠ | 7-mG DNA and RNA methylation |
HD mouse models (R6/2, CAG140 Kl mice) HD patients |
10 N.S. |
ECD/HPLC | Thomas et al., 2013 | ||
indicates increased expression levels and
indicates altered expression, not further specified.
Abbreviations: 7-mG, 7-methylguanine; Ap−1, activator protein 1; CAG140 KI mice, transgenic mouse model overexpressing human HTT with 140 cytosine-adenine-guanine repeats; HD, Huntington’s disease; HTT, Huntingtin; Nes, nestin; Pax6, paired box 6; R6/2 mice, transgenic mouse model overexpressing exon 1 of human HTT with an expanded cytosine-adenine-guanine repeat length; Sox2, sex-determining region Y (SRY)-box 2; UTR, untranslated region; N.S., not specified; RRBS, reduced representation bisulfite sequencing; MeDIP-Seq, methylated DNA immunoprecipitation sequencing; ECD, electrochemical detection; HPLC, high-performance liquid chromatography; ChIP-Seq, chromatin immunoprecipitation sequencing.