Cell type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development.

ABSTRACT: Disruptive variants in the chromodomain helicase CHD8, which acts as a transcriptional regulator during neurodevelopment, are strongly associated with risk for autism spectrum disorder (ASD). Loss of CHD8 function is hypothesized to perturb gene regulatory networks in the developing brain, thereby contributing to ASD etiology. However, insight into the cell type-specific transcriptional effects of CHD8 loss of function remains limited. We used single-cell and single-nucleus RNA-sequencing to globally profile gene expression and identify dysregulated genes in the embryonic and juvenile wild type and Chd8 ^+/- mouse cortex, respectively. Chd8 and other ASD risk-associated genes showed a convergent expression trajectory that was largely conserved between

SUBMITTER: Yim KM 

PROVIDER: S-EPMC11343218 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature