Fig. 2

Dysregulated gene expression levels in UiPSC-derived neurons of the autistic savant on day 42. a and b DEG analyses of UiPSC-derived neurons without astrocyte co-culture on day 42. a Volcano plots of DGEs. The blue dots indicate downregulation, and the red dots indicate upregulation. In addition, the green dots represent major genes involved in the network of TBR1. b Heat-map analysis of DGEs. In total, 794 genes exhibited significant differential expression. c-e Enrichment analyses of upregulated DGEs of UiPSC-derived neurons. Padj, adjusted p value. Gene Ratio indicates the number of genes enriched in one pathway compared with the total genes changed in all pathways. Count indicates the number of genes. c KEGG enrichment analysis. d GO enrichment analysis. e PPI analysis. Degree was defined to range from 1 to 25 as the node size. A higher degree value indicates a more crucial gene, such as CTNNB1, PAX6, WNT5B, TBR1, NEUROG1, and CDH10. f-i Western blot analyses of ASD risk genes and specific neural markers. Sample Western blot analysis images and quantification are presented. Data were normalized to actin for sample loading and then normalized to C2 in the same blot for comparison. Values are presented as the mean ± SEM. N ≥ 3 cultures; unpaired Student’s t test. f PAX6, TBR1, and FOXP2 were upregulated in UiPSC-derived neurons of the autistic savant, whereas NR2B (GRIN2B) was not significantly different between the control neurons and the UiPSC-derived neurons of the autistic savant. Results of PAX6 were only from one culture. g CUX1 and BRN2, as the markers of layer II-V of the neocortex, were not significantly different between the two groups of neurons. h GAD65 was downregulated in UiPSC-derived neurons of the autistic savant, whereas GAD67 and VGAT were not significantly different between two groups of neurons. i PSD95 and synapsin1 (SYN1), as the synaptic proteins, were not different between the control neurons and the UiPSC-derived neurons of the autistic savant. See also Additional file 3: Figure S2 and Additional file 2: Table S2, Additional file 5: Table S3 and Additional file 6: Table S4