Department of Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Yale Child Study Center, New Haven, CT 06510, USA.
Department of Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Curr Opin Genet Dev. 2020 Dec;65:91-97. doi: 10.1016/j.gde.2020.05.004. Epub 2020 Jul 3.
Evolutionary perspective is critical for understanding human biology, human medicine, and the traits that make human beings unique. One of the crucial characteristics that sets humans apart from other extant species is our cognitive ability, which allows for complex processes including symbolic thought, theory of mind, and syntactical-grammatical language, and is thought to arise from the expansion and specialization of the human nervous system. It has been hypothesized that the same evolutionary changes that allowed us to develop these valuable skills made humans susceptible to neurodevelopmental and neurodegenerative disease. Unfortunately, our lack of access to our extinct ancestors makes this a difficult hypothesis to test, but recent collaborations between the fields of evolution, genetics, genomics, neuroscience, neurology and psychiatry have begun to provide some clues. Here, we will outline recent work in those fields that have utilized our growing knowledge of disease risk genes and loci, identified by wide-scale genetic studies, and nervous system development and function to draw conclusions about the impact of human-specific aspects of evolution. We will discuss studies that assess evolution at a variety of scales including at the levels of whole brain regions, cell types, synapses, metabolic processes, gene expression patterns, and gene regulation. At all of these levels, there is preliminary evidence that human-specific brain features are linked to neurodevelopmental and neurodegenerative disease risk.
进化视角对于理解人类生物学、人类医学以及使人类独一无二的特征至关重要。人类有许多关键特征，使我们与其他现存物种区分开来，其中之一就是我们的认知能力，它使我们能够进行复杂的过程，包括象征性思维、心理理论和句法-语法语言，并且被认为是源于人类神经系统的扩展和专业化。有人假设，使我们能够发展这些有价值技能的同样的进化变化，使人类容易受到神经发育和神经退行性疾病的影响。不幸的是，由于我们无法接触到已灭绝的祖先，因此很难验证这一假设，但进化、遗传学、基因组学、神经科学、神经病学和精神病学领域的最近合作已经开始提供一些线索。在这里，我们将概述这些领域的最新工作，这些工作利用了我们对通过大规模遗传研究确定的疾病风险基因和基因座的不断增长的认识，以及神经系统的发育和功能，来得出有关人类进化特有方面对影响的结论。我们将讨论评估各种规模的进化的研究，包括整个大脑区域、细胞类型、突触、代谢过程、基因表达模式和基因调控。在所有这些层面上，都有初步证据表明，人类特有的大脑特征与神经发育和神经退行性疾病风险有关。
