Department of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin 300052, China.
Cereb Cortex. 2020 May 18;30(6):3655-3666. doi: 10.1093/cercor/bhz333.
The human cerebral cortex is the source of many complex behaviors and is a vulnerable target of various neuropsychiatric disorders, but transcriptional profiles linked to cerebral cortical volume (CCV) differences across brain areas remain unknown. Here, we screened CCV-related genes using an across-sample spatial correlation analysis in 6 postmortem brains and then individually validated these correlations in 1091 subjects with different ages and ethnicities. We identified 62 genes whose transcriptional profiles were repeatedly associated with CCV in more than 90% of individuals. CCV-related genes were specifically expressed in neurons and in developmental periods from middle childhood to young adulthood, were enriched in ion channels and developmental processes, and showed significant overlap with genes linked to brain functional activity and mental disorders. The identified genes represent the conserved transcriptional architecture of the human cerebral cortex, suggesting a link between conserved gene transcription and neocortical structural properties.
人类大脑皮层是许多复杂行为的发源地，也是各种神经精神疾病的脆弱靶点，但与大脑区域之间的大脑皮层体积 (CCV) 差异相关的转录谱尚不清楚。在这里，我们使用 6 个死后大脑的跨样本空间相关分析筛选了 CCV 相关基因，然后在具有不同年龄和种族的 1091 名受试者中单独验证了这些相关性。我们确定了 62 个基因，它们的转录谱在 90%以上的个体中与 CCV 反复相关。CCV 相关基因特异性地在神经元中表达，并在从中年到青年早期的发育阶段表达，在离子通道和发育过程中富集，与与大脑功能活动和精神障碍相关的基因有显著重叠。鉴定出的基因代表了人类大脑皮层的保守转录结构，表明保守基因转录与新皮层结构特性之间存在联系。
