“什么基因变化让我们成为独特的人类？”是《科学》在建刊125周年之际提出的25个最重要的问题之一。比对人类与黑猩猩的基因组，编码序列的分歧率仅为1.23%，这无法解释它们之间的巨大性状差异。确实，在人工智能时代到来之际，我们对人的自然智能仍缺乏全面的认识。中科院数学院发现，人类独特的认知和智能，很大程度上可以通过全基因组顺式调控元件频率（CREF）矩阵构建的特征模块识别。从猿到人，第4级和第9级的CREF特征向量发生跳变。相比黑猩猩，人类特有的认知和智能包括：以突触可塑性、增强的髓鞘（白质）、Schaffer collateral–CA1突触为特征的长期记忆；基于特有耳蜗形态生成和发声行为构成的语言与音乐能力；视觉、观察和关联学习能力；探索行为；以及调节睡眠的GABA-B受体激活通路、血清素的合成和信号传导功能等。与渐变的、近中性的蛋白质序列进化相比，基因表达的順式调控进化既有渐变模式，也有跳变模式，研究结果近期作为封面文章发表于Quantitative Biology。

Publication:

WILEY Online Library First published: 03 January 2025 and 14 January 2025

https://onlinelibrary.wiley.com/doi/10.1002/qub2.88 和https://onlinelibrary.wiley.com/doi/10.1002/qub2.92

Author:

Xiaojie Li

Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing, China

School of Mathematical Sciences, University of the Chinese Academy of Sciences, Beijing, China

Contribution: Data curation, Formal analysis, Investigation, Software, Validation, Visualization, Writing - original draft, Writing - review & editing

Jianhui Shi

Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing, China

School of Mathematical Sciences, University of the Chinese Academy of Sciences, Beijing, China

Contribution: Data curation, Formal analysis, Investigation, Software, Validation, Visualization, Writing - original draft, Writing - review & editing

Lei M. Li

Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing, China

School of Mathematical Sciences, University of the Chinese Academy of Sciences, Beijing, China

address: lilei@amss.ac.cn