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- W2807348997 abstract "Summary Autism Spectrum Disorder is phenotypically and genetically heterogeneous, but genomic analyses have identified candidate susceptibility genes. We present a CRISPR gene editing strategy to insert a protein tag and premature termination sites creating an induced pluripotent stem cell (iPSC) knockout resource for functional studies of 10 ASD-relevant genes ( AFF2/FMR2, ANOS1, ASTN2, ATRX , CACNA1C , CHD8, DLGAP2, KCNQ2 , SCN2A , TENM1 ). Neurogenin 2 (NEUROG2)-directed differentiation of iPSCs allowed production of cortical excitatory neurons, and mutant proteins were not detectable. RNAseq revealed convergence of several neuronal networks. Using both patch-clamp and multi-electrode array approaches, the electrophysiological deficits measured were distinct for different mutations. However, they culminated in a consistent reduction in synaptic activity, including reduced spontaneous excitatory post-synaptic current frequencies in AFF2/FMR2- , ASTN2-, ATRX -, KCNQ2 - and SCN2A -null neurons. Despite ASD susceptibility genes belonging to different gene ontologies, isogenic stem cell resources can reveal common functional phenotypes, such as reduced functional connectivity." @default.
- W2807348997 created "2018-06-13" @default.
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- W2807348997 date "2018-06-11" @default.
- W2807348997 modified "2023-09-26" @default.
- W2807348997 title "Complete Disruption of Autism-Susceptibility Genes by Gene-Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons" @default.
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- W2807348997 doi "https://doi.org/10.1101/344234" @default.
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