人类大脑结构和功能的进化变化赋予了我们专门的认知能力。这些变化如何在基因和功能上发生仍然是一个悬而未决的问题。然而，新方法正在提供大量有关使人类大脑与众不同的遗传、表观遗传和转录组差异的信息。结合允许获取发育中的脑组织和我们现存近亲的细胞的体外模型，这些拼图现在正在拼凑在一起，以产生更完整的关于人脑真正独特之处的图景。现在的挑战是将这些观察结果联系起来，并从相关性跳转到因果关系。然而，优雅的基因操作现在已经成为可能，并且当与类器官等模型系统相结合时，将揭示基因水平上的进化变化如何导致人类认知的发育和功能的关键差异的机械理解。版权所有 © 2024 MRC分子生物学实验室。由爱思唯尔公司出版。保留所有权利。

Evolutionary changes in human brain structure and function have enabled our specialized cognitive abilities. How these changes have come about genetically and functionally has remained an open question. However, new methods are providing a wealth of information about the genetic, epigenetic, and transcriptomic differences that set the human brain apart. Combined with in vitro models that allow access to developing brain tissue and the cells of our closest living relatives, the puzzle pieces are now coming together to yield a much more complete picture of what is actually unique about the human brain. The challenge now will be linking these observations and making the jump from correlation to causation. However, elegant genetic manipulations are now possible and, when combined with model systems such as organoids, will uncover a mechanistic understanding of how evolutionary changes at the genetic level have led to key differences in development and function that enable human cognition.Copyright © 2024 MRC Laboratory of Molecular Biology. Published by Elsevier Inc. All rights reserved.