作者
Michael J Gandal, Jillian R Haney, Brie Wamsley, Chloe X Yap, Sepideh Parhami, Prashant S Emani, Nathan Chang, George T Chen, Gil D Hoftman, Diego de Alba, Gokul Ramaswami, Christopher L Hartl, Arjun Bhattacharya, Chongyuan Luo, Ting Jin, Daifeng Wang, Riki Kawaguchi, Diana Quintero, Jing Ou, Ye Emily Wu, Neelroop N Parikshak, Vivek Swarup, T Grant Belgard, Mark Gerstein, Bogdan Pasaniuc, Daniel H Geschwind
发表日期
2022/11/17
期刊
Nature
卷号
611
期号
7936
页码范围
532-539
出版商
Nature Publishing Group UK
简介
Neuropsychiatric disorders classically lack defining brain pathologies, but recent work has demonstrated dysregulation at the molecular level, characterized by transcriptomic and epigenetic alterations, –. In autism spectrum disorder (ASD), this molecular pathology involves the upregulation of microglial, astrocyte and neural–immune genes, the downregulation of synaptic genes, and attenuation of gene-expression gradients in cortex,,, –. However, whether these changes are limited to cortical association regions or are more widespread remains unknown. To address this issue, we performed RNA-sequencing analysis of 725 brain samples spanning 11 cortical areas from 112 post-mortem samples from individuals with ASD and neurotypical controls. We find widespread transcriptomic changes across the cortex in ASD, exhibiting an anterior-to-posterior gradient, with the greatest differences in primary visual cortex …
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