Fig. 5: Pogz deficiency leads to transcriptional dysregulation.

a, d Proportion of up- and downregulated genes in the a hippocampus or d cerebellum of Pogz-deficient mice. Bars correspond to all genes (left), genes with fold change > 1.5 (middle) and genes with fold change > 2 (right). b, e Volcano plot showing differentially expressed genes in the b hippocampus or e cerebellum. P values were calculated by edgeR. The red line indicates FDR = 0.05. Up and down (bottom left) indicate genes upregulated and downregulated (respectively) in the Pogz-deficient mice. c, f Heatmap of the 50 most significant genes in the c hippocampus or f cerebellum. The color corresponds to the scaled expression levels (blue—negative, red—positive). g Correlation between fold changes of gene expression in the hippocampus and the cerebellum. The correlation, significance and linear regression were calculated using an iteratively re-weighted least squares algorithm (lmrob function in the ‘Robustbase Package’ in R). h, i GSEA enrichment plots of genes differentially expressed in the hippocampus of Pogz-deficient mice (see also Supplementary Table S3). The significance of the enrichment was calculated using fgseaMultilevel function in the ‘fgsea Package’ in R. h ASD candidate genes (SFARI gene base, score 1−3) are enriched in gene upregulated in the hippocampus. i Genes differentially expressed in the GLP mouse model are significantly enriched among genes differentially expressed in the Pogz mouse model.