Fig. 2: Transcriptomic analysis of ASD iN cells.

a A volcano plot for differentially expressed genes between ASD and control iN cells. Significantly upregulated genes are represented by red dots and black dots indicate significantly downregulated genes in ASD iN cells. The X-axis is the log2-transformed gene expression in ASD iN cells divided by that in control iN cells. The Y-axis represents the p value (−log10) adjusted by the multiple testing correction. b Gene ontology term and functional pathway enrichments in upregulated (red) genes and downregulated (black) genes in ASD iN cells by Metascape. The adjusted p values of significantly enriched terms or pathways are shown as bar plots (−log10adjP). c Representative heatmaps for the top four enriched terms or pathways (HATs acetylate histones, trans-synaptic signaling, axon development, and synapse organization) for the down downregulated genes in ASD iN cells. d Quantitative RT-PCR analyses of mRNA expression level of NR1, NR2B, LRRTM1, and SYT6 in 3-week-old iN cells. Each gene expression was normalized to GAPDH expression. The NMDA-R components, NR1 and NR2B, are decreased in ASD iN cells. For NR1 [Control: n = 19, ASD: n = 10 (Control#1: n = 5, Control#2: n = 5, Control#3: n = 5, Control#4: n = 4, ASD#3: n = 5, ASD#4: n = 5), unpaired t-test for right panels (****p < 0.0001)]. For NR2B [Control: n = 15, ASD: n = 8 (control#1: n = 4, control#2: n = 4, control#3: n = 4, control#4: n = 3, ASD#3: n = 4, ASD#4: n = 4), unpaired t-test for right panel, *p < 0.05]. For LRRTM1 [Control: n = 30, ASD: n = 17 (Control#1: n = 8, Control#2: n = 8, Control#3: n = 8, Control#4: n = 6, ASD#3: n = 8, ASD#4: n = 7, ASD#5: n = 2), unpaired t-test for right panels, not significant (p = 0.107)]. For SYT6 [Control: n = 30, ASD: n = 16 (Control#1: n = 8, Control#2: n = 8, Control#3: n = 8, Control#4: n = 6, ASD#3: n = 7, ASD#4: n = 7, ASD#5: n = 2), unpaired t-test for right panel (**p < 0.01)].