Fig. 3: The C9orf72 HRE alters microglia in an HBCX model.
From: C9orf72 hexanucleotide repeat expansions impair microglial response in ALS
a, Schematic overview of the experimental design. MPs, microglial precursors; hMG, human microglia. Created with BioRender.com. b, UMAP plot visualizing microglia cell states colored based on their assigned cluster: HM, RM, tCRM, CRM1, CRM2, HLA, DAM and IRM. c, Heatmap showing the most expressed genes per microglial cluster. Volcano plots comparing C9-HRE versus control microglia (d) and C9KO versus control microglia (e). Top differentially downregulated and upregulated genes are reported and color coded based on the corresponding microglial cluster. NA, not assigned to any cluster. Wilcoxon test; P values adjusted with Bonferroni correction based on the total number of genes in the dataset (adjusted P < 0.05). P values can be found in Supplementary Tables 19 and 20. Number of mice per experimental group: C9-ISO n = 4, C9-HRE n = 2, CTRL n = 7, C9KO n = 10. Number of cells analyzed per group: C9-ISO = 1,184, C9-HRE = 554, CTRL = 11,104, C9KO = 10,386. Timepoint analyzed: C9-HRE and C9-ISO 3 months, CTRL and C9KO 6 months. FC, fold change.
