Extended Data Fig. 6: Cluster characterization of astrocytes in control and ALSP samples.
From: Mutations in the human CSF1R gene impact microglia’s maintenance of brain white matter integrity
a. Representative IHC images showing GFAP staining in the frontal cortex of control and ALSP brain samples (left), with corresponding quantification (right). Statistical significance was determined using a non-parametric t-test. Data are presented as box-and-whisker plots with all data points; n = 8 control, n = 3 ALSP. Scale bar = 20 µm. b. Dot plot showing expression of marker genes for each astrocyte subset. c. Nuclei frequencies of each astrocyte subset across all samples. d. Heatmap showing the average gene expression of the top upregulated genes in ALSP versus control astrocytes. e. Molecular Function (MF) pathways enriched in ALSP OLs. f. Box plots showing average individual expression levels for selected DEGs in astrocytes. P values were calculated by two-sided Wilcoxon rank-sum test. g. UMAP plots of expression of IL1B across all cell types. h. Representative IHC images showing ASC staining in early-stage (left) and advanced-stage (right) ALSP white matter lesions. Increased ASC signal is observed in advanced lesions, indicating enhanced inflammasome activation. Scale bar = 50 µm.
