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连接沟通相关的信号通路与 ASD 易感性。

Connecting signaling pathways underlying communication to ASD vulnerability.

机构信息

Department of Neuroscience, UT Southwestern Medical Center, Dallas, Texas, USA.

出版信息

Int Rev Neurobiol. 2013;113:97-133. doi: 10.1016/B978-0-12-418700-9.00004-6.

Abstract

Language is a human-specific trait that likely facilitated the rapid increase in higher cognitive function in our species. A consequence of the selective pressures that have permitted language and cognition to flourish in humans is the unique vulnerability of humans to developing cognitive disorders such as autism. Therefore, progress in understanding the genetic and molecular mechanisms of language evolution should provide insight into such disorders. Here, we discuss the few genes that have been identified in both autism-related pathways and language. We also detail the use of animal models to uncover the function of these genes at a mechanistic and circuit level. Finally, we present the use of comparative genomics to identify novel genes and gene networks involved in autism. Together, all of these approaches will allow for a broader and deeper view of the molecular brain mechanisms involved in the evolution of language and the gene disruptions associated with autism.

摘要

语言是人类特有的一种特征,可能促进了我们物种中更高认知功能的快速增长。语言和认知在人类中得以蓬勃发展的选择压力的结果是,人类发展出认知障碍,如自闭症,变得尤为脆弱。因此,理解语言进化的遗传和分子机制的进展应该可以深入了解这些障碍。在这里,我们讨论了在自闭症相关途径和语言中都已确定的少数几个基因。我们还详细介绍了使用动物模型在机制和回路水平上揭示这些基因功能的方法。最后,我们介绍了使用比较基因组学来识别与自闭症相关的新基因和基因网络的方法。所有这些方法都将使我们更广泛、更深入地了解参与语言进化的分子大脑机制以及与自闭症相关的基因破坏。

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