Figure 2

Disruption of AUTS2 resulted in the downregulation of neuronal genes and the upregulation of ChP genes. (A-C). MA plots illustrate the RNA sequencing comparison between (A) WT and AUTS2+/-, (B) AUTS2+/- and AUTS2-/-, and (C) WT and AUTS2-/- 75-day-old cerebral organoids. For each genotype, three biologically replicated samples (n = 3) were processed for RNA-seq, each including 3–5 cerebral organoids. Differentially expressed genes (highlighted with blue dots) were identified using the DESeq2 R package with an adjusted p value threshold of less than 0.1. (D&E) Bar plots of the GO analysis for genes that are downregulated (D). and upregulated (E) in AUTS2-/- cerebral organoids. GO terms with an adjusted p value below 0.1 were selected and ordered by gene ratio and adjusted p values. The functional terms related to neurodevelopment are indicated by red arrows. (F) Heatmap displaying the expression of selected neuronal genes (FOXG1, POU3F2, BCL11B, RBFOX3, and MAP2) and ChP genes (TTR, CLIC6, FOLR1, and SLC4A5) based on RNA-seq data. Z-score normalization is applied for visualization.