Department of Neurology, Shanxi Provincial People's Hospital, Affiliate of Shanxi Medical University, Taiyuan, China.
Department of Neurology, Shanxi Provincial People's Hospital, Affiliate of Shanxi Medical University, Taiyuan, China.
Behav Brain Res. 2020 Sep 1;393:112803. doi: 10.1016/j.bbr.2020.112803. Epub 2020 Jul 9.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive or restricted interest and behaviors. However, the specific pathogenesis of ASD is still unclear. It has been widely accepted that genetic and environmental risk factors are associated with the pathogenesis of ASD. Paired box2 (Pax2) gene encodes a transcription factor that plays an important role in the development of the central nervous system of humans and mice. In this study, we constructed Pax2 heterozygous gene knockout (Pax2) mice using CRISPR/Cas9 technology and performed several autistic-like behavioral assays, including self-grooming test, sociability approach, the elevated plus maze test and Y maze test. Results showed increased repetitive self-grooming and possible abnormal anxiety-like behavior occur in Pax2 mice. Furthermore, no changes were observed in the abilities of sociability and working memory in Pax2 mice compared to wild-type C57BL/6 J mice. Finally, we speculated that possible mechanism of abnormal autistic-like behaviors due to the deletion of Pax2 gene.
自闭症谱系障碍（ASD）是一种神经发育障碍，其特征是社交互动和沟通受损，以及重复或受限的兴趣和行为。然而，ASD 的具体发病机制尚不清楚。人们普遍认为遗传和环境风险因素与 ASD 的发病机制有关。配对盒 2（Pax2）基因编码一种转录因子，在人类和小鼠中枢神经系统的发育中发挥重要作用。在这项研究中，我们使用 CRISPR/Cas9 技术构建了 Pax2 杂合基因敲除（Pax2）小鼠，并进行了几项自闭症样行为检测，包括自我梳理测试、社交接近测试、高架十字迷宫测试和 Y 迷宫测试。结果表明，Pax2 小鼠出现了重复自我梳理和可能的异常焦虑样行为。此外，与野生型 C57BL/6J 小鼠相比，Pax2 小鼠的社交能力和工作记忆能力没有变化。最后，我们推测 Pax2 基因缺失可能导致异常的自闭症样行为的机制。
