Fig. 4: Abnormal expression of neuronal migration genes in the PFC and STP of patients with DS.

a The Venn diagram shows abnormal expression of multiple neuron migration genes. b Box plots show the predicted ordering of cell phenotypes by CytoTRACE in the PFC and STP. For the PFC (14,624 cells) and STP (18,154 cells), 1000 and 1200 cells were randomly selected from each cell type, respectively. Box plots indicate the median, interquartile range (25th–75th percentiles), and whiskers extend to 1.5 times the interquartile range (IQR). c A schematic diagram of machine learning for predicting cell state by cell migration genes. d, e Predictive models and feature importance of migration gene for cell state. Left, Confusion matrices of disease prediction performance for the training set. Model accuracy values are noted for each model. Middle, Confusion matrices of disease prediction performance for the test set. Right, Feature importance analysis showing the mean decrease in Gini index for each gene, indicating their relative importance in predicting cell states. f The expression changes of TUBB1A, PPIA, and TUBB2B with gestational age in the control and DS groups of PFC and STP. g, h Representative microscopic fields of TUBB2B (White)/ NeuN (green) /SATB2 (red) positive cells in the PFC (g) and STP (h) from GW23 control and DS. Blue, DAPI. Scale bar, 100 μm. i Quantification of TUBB2B (White)/NeuN (green) /SATB2 (red) triple-positive cells in PFC and STP from Control and DS group. n = 3 per group. j The chr21 DEGs regulated the development and migration of neurons in the PFC and STP through tubulin. CP cortical plate, SP subplate zone, MZ marginal zone. Source data are provided as a Source Data file.