研究人员提出了一项成人皮层的单细胞转录组学分析，对来自6个区域的169个样本进行了主题分析，这些样本来自15名女性和15名男性（26至78岁），根据其性别偏量选择。基于性别的分析发现，在皮质、神经胶质和兴奋性神经元以及性染色体基因中存在最大的差异。3000多个基因表现出性别偏倚表达，其中133个基因在不同区域和细胞类型中具有一致的影响。核心常染色体特征将性别差异与皮质结构、激素反应调节和性别偏倚性脑疾病的遗传风险联系起来。这项研究促进了他们对人类大脑性别差异的理解，并为支持未来的研究提供了宝贵的依据。
据悉，神经发育、精神和神经退行性疾病易感性的性别差异可能源于性染色体和激素对细胞类型特异性基因表达的影响。
附：英文原文
Title: Sex effects on gene expression across the human cerebral cortex at cell type resolution
Author: Alex R. DeCasien, Pavan Auluck, Siyuan Liu, Ningping Feng, Abdel G. Elkahloun, Qing Xu, Stefano Marenco, Mark R. Cookson, Armin Raznahan
Issue&Volume: 2026-04-16
Abstract: Sex differences in neurodevelopmental, psychiatric, and neurodegenerative disease susceptibility may arise from sex chromosome and hormonal influences on cell type–specific gene expression. We present a single-cell transcriptomic analysis of adult human cortex performed using 169 samples from 15 females and 15 males (age 26 to 78 years) across six regions selected according to their sex-biased volumes. Sex-based analysis identified the strongest differences in the fusiform cortex, glia, and excitatory neurons and among sex-chromosome genes. More than 3000 genes showed sex-biased expression, including 133 with consistent effects across regions and cell types. Core autosomal signatures linked sex differences to cortical architecture, hormone-responsive regulation, and genetic risk for sex-biased brain disorders. This study advances our understanding of sex differences in human brains and provides a valuable resource to support future research.
DOI: aea9063
Source: https://www.science.org/doi/10.1126/science.aea9063