The advanced evolution of the human cerebral cortex forms the basis for our high-level cognitive functions. Through a comparative analysis of single-nucleus transcriptome data from the human neocortex and that of chimpanzees, macaques, and marmosets, we discovered 20 subgroups of cell types unique to the human brain, which include 11 types of excitatory neurons. Many of these human-unique cell clusters exhibit significant overexpression of genes regulated by human-specific enhancers. Notably, these specific cell clusters also express genes associated with disease risk, particularly those related to brain dysfunctions like learning disorders. Furthermore, genes linked to cortical thickness and human episodic memory encoding activities show heightened expression within these cell subgroups. These findings underscore the critical role of human brain-unique cell clusters in the evolution of human brain functions.

人类大脑皮层的高级进化构成了我们高级认知功能的基础。通过对来自人类新皮层和黑猩猩、猕猴和狨猴的单核转录组数据的比较分析，我们发现了人脑特有的 20 个细胞类型亚群，其中包括 11 种类型的兴奋性神经元。许多这些人类特有的细胞簇表现出对人类特异性增强子调控的基因的显著过表达。值得注意的是，这些特定的细胞簇还表达与疾病风险相关的基因，特别是那些与学习障碍等脑功能障碍相关的基因。此外，与皮质厚度和人类情景记忆编码活动相关的基因在这些细胞亚群中表现出高表达。这些发现强调了人脑独特细胞簇在人脑功能进化中的关键作用。