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Fig. 3 | Molecular Autism

Fig. 3

From: Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model

Fig. 3

Translation of QPRT-KO-induced gene expression profile to human brain development. a Modules enriched for QPRT-KO de-regulated genes. A total of 29 modules (in the following termed “Kang-Modules”) identified by Kang and colleagues [34] were tested for enrichment with genes differentially regulated in QPRT-KO cells. Downregulated genes were strongly enriched in the Kang-Module number 1, 10, 15, and 20 while upregulated genes were enriched in Kang-Module 2 number and 20. Kang-Module number 17 was enriched for deregulated genes in general, i.e., for the merged lists of up and downregulated genes. b Regulation of modules enriched for QPRT-KO implicated genes during brain development. Kang-Modules number 15 (enriched for QPRT-KO induced downregulated genes), 2, and 20 (both enriched for genes up and downregulated) are strongly regulated during early infancy (~ 2 years), especially in the dorsolateral prefrontal cortex, the superior temporal cortex, hippocampus, and amygdala. Kang-Module number 10 is downregulated in the cerebellum while it is enriched for genes downregulated in QPRT-KO cells. Kang-Module number 17 is enriched for deregulated genes and shows an upregulation of genes expressed in the cerebellum. Kang-Module number 1 shows strong regulation of hippocampus and amygdala, parts of the frontal cortex, and the cerebellum. This module is enriched for genes downregulated in QPRT-KO cells. Abbreviations: OFC orbital prefrontal cortex, DFC dorsolateral prefrontal cortex, VFC ventrolateral prefrontal cortex, MFC medial prefrontal cortex, M1C primary motor (M1) cortex, S1C primary somatosensory (S1) cortex, IPC posterior inferior parietal cortex, A1C primary auditory (A1) cortex, STC superior temporal cortex, ITC inferior temporal cortex, V1C primary visual (V1) cortex, HIP hippocampus, AMY amygdala, STR striatum, MD mediodorsal nucleus of the thalamus, CBC cerebellar cortex

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