RNA sequencing of human neural progenitor cells, SK-N-SH, following CHD8 knockdown. Homo sapiens

Chromodomain helicase DNA-binding protein 8 (CHD8) was previously identified as a leading autism spectrum disorder (ASD) candidate gene by whole-exome sequencing and subsequent targeted-sequencing studies. The present study used small interfering RNA-mediated knockdown of CHD8 in the human neural progenitor cell line, SK-N-SH, in order to determine the consequences of altered expression of this gene. RNA sequencing was performed following CHD8 knockdown to identify differentially expressed genes and affected molecular pathways resulting from this manipulation. This study sheds light on the functional consequences of altered CHD8 expression and may provide insight into the molecular underpinnings of autism spectrum disorder.

染色质域解旋酶DNA结合蛋白8（Chromodomain helicase DNA-binding protein 8, CHD8）此前经全外显子组测序（whole-exome sequencing）及后续靶向测序研究（targeted-sequencing studies），被鉴定为自闭症谱系障碍（autism spectrum disorder, ASD）的首要候选基因。本研究以人类神经祖细胞系SK-N-SH为模型，通过小干扰RNA（small interfering RNA）介导的基因敲低技术下调CHD8表达，以明确该基因表达异常所引发的生物学效应。随后对CHD8敲低后的细胞进行RNA测序（RNA sequencing），以鉴定此次实验操作导致的差异表达基因（differentially expressed genes）及受调控的分子通路（molecular pathways）。本研究阐明了CHD8基因表达异常的功能性后果，或可为自闭症谱系障碍的分子机制研究提供关键视角。