TABLE 5.
Characteristics of included non human HD studies. The table summarizes the PMID, sample, cell type, reference and key findings of each included non human study (Ng et al., 2013; Vashishtha et al., 2013; Crotti et al., 2014; Mielcarek et al., 2014; Langfelder et al., 2016; Handley et al., 2017; Jacobsen et al., 2017; Pan et al., 2018; Goodnight et al., 2019; Radulescu et al., 2019; Yildirim et al., 2019; Lee et al., 2020; Wertz et al., 2020).
| PMID | Sample | Cell type | References | Key findings |
|---|---|---|---|---|
| 25784504 | R6/1 mouse | Striatum | Achour et al. (2015) | Found downregulation of neuronal identity genes accompanied by decrease in H3K27ac and RNAPII occupancy |
| 31744868 | R6/1 mouse; CHL2 mouse | Striatum | Yildirim et al. (2019) | Found abberant transcription and H3K27ac profiles at the presymptomatic stage and identified Elk-1 as a candidate early regulator |
| 23872847 | R6/2 mouse | Striatum, Cortex | Vashishtha et al. (2013) | Found reduced H3K4me3 levels at key neuronal genes and that inhibition of demethylases can ameliate pathology |
| 25101683 | R6/2 mouse; HdhQ150 mouse | Heart | Mielcarek et al. (2014) | Found heart pathology without mHTT aggregates or transcriptional dysregulation |
| 28120936 | R6/2 mouse | Cortex | Jacobsen et al. (2017) | Found significant expression of a fragment resulting from transgene integration in R6/2 |
| 32004439 | R6/2 mouse | Striatum | Wertz et al. (2020) | Found mHTT toxicity modifiers such as Nme genes and several genes involved in methylation-dependent chromatin silencing and dopamin signaling |
| 32681824 | R6/2 mouse; HdhQ150 mouse | Striatum | Lee et al. (2020) | Found mtRNA release and upregulation of innate immune signaling in MSNs using cell type-specific transcriptomics |
| 26900923 | HdhQ175 mouse | Various tissues | Langfelder et al. (2016) | Found CAG length related gene modules such as MSN identity genes, cAMP signaling, cell death and protocadherin genes |
| 31015293 | BACHD mouse | Corpus Callosum | Radulescu et al. (2019) | Found that white matter abnormality precedes HD onset and that inhibition of mHTT in OPC ameliorates myelin pathology and HD-related behavioral deficits |
| 29891550 | Swiss Webster mouse | Primary Cortical Neuron | Pan et al. (2018) | Found that knockdown of Twist1 reverses expression of key neuronal genes and ameliorates HD pathology |
| 23341638 | E14 STHdhQ111 cell | Striatal Cell Line | Ng et al. (2013) | Found extensive changes in DNA methylation accompanying altered gene expression and identified AP-1 and SOX2 as transcriptional regulators for HD-related methylation |
| 24584051 | BV2 microglia cell | Cell Culture | Crotti et al. (2014) | Found cell-autonomous pro-inflammatory transcriptional activation in microglia driven by PU.1 and C/EBPs |
| 31722751 | Rhesus macaque PSC | PSC, NPC, Astrocyte | Goodnight et al. (2019) | Found downregulation of p53 signaling and cell cycle pathway in NPCs and upregulation in astrocytes perhaps driven by E2F |
| 29229845 | OVT73 sheep | Striatum | Handley et al. (2017) | Found upregulation of urea transporter SLC14A1 and other osmotic regulators in prodromal sheep striatum |