The autism risk factor chd8 is a chromatin activator in human neurons and functionally dependent on the erk-mapk pathway effector elk1

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SUMMARY

    To study the role of CHD8 in human neurons, the authors engineered the CHD8 locus in pluripotent stem_cells to produce heterozygous and homozygous conditional knockout (cKO) cells. Since single-cell_RNA_sequencing data from the middle temporal gyrus of the human adult cortex showed that CHD8 is predominantly expressed in excitatory neurons, the authors sought to analyze the conditional CHD8 mutations in differentiated excitatory neurons from human pluripotent stem_cells (Fig 4a)36,37. The ETS motif is enriched among CHD8 binding_sites. The odds ratio of ETS motifs enrichment was significantly higher in the strong binding_sites of . . .

     

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