Increased repetitive self-grooming occurs in Pax2 mutant mice generated using CRISPR/Cas9
Increased repetitive self-grooming occurs in Pax2 mutant mice generated using CRISPR/Cas9
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使用 CRISPR/Cas9 生成的 Pax2 突变小鼠的重复自我修饰次数增加
DOI：
10.1016/j.bbr.2020.112803
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发表时间：
2020-07
影响因子：
2.7
通讯作者：
Li Rongshan
中科院分区：
文献类型：
--
作者：
Wei Hongen;Wang Min;Lv Na;Yang Hua;Zhao Min;Huang Bo;Li Rongshan
自闭症谱系障碍（ASD）是一种神经发育障碍，其特征是社会互动和沟通受损，重复或限制兴趣和行为。然而，ASD的具体发病机制尚不清楚。遗传和环境因素与ASD的发病机制有关已被广泛接受。配对的box2 （Pax2）基因编码一种在人和小鼠中枢神经系统发育中起重要作用的转录因子。本研究利用CRISPR/Cas9技术构建Pax2杂合基因敲除（Pax2+/−）小鼠，并进行了多项自闭症样行为分析，包括自梳理测试、社交性方法、升高正迷宫测试和Y迷宫测试。结果显示pax2 +/−小鼠出现了重复自我梳理增加和可能出现的异常焦虑样行为。此外，与野生型C57BL/6 J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基因缺失导致自闭症样行为异常的可能机制。
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 constructedPax2heterozygous 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 inPax2+/−mice. Furthermore, no changes were observed in the abilities of sociability and working memory inPax2+/−mice compared to wild-type C57BL/6 J mice. Finally, we speculated that possible mechanism of abnormal autistic-like behaviors due to the deletion ofPax2gene.
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影响因子：
48
作者：
Mali, Prashant;Esvelt, Kevin M.;Church, George M.
通讯作者：
Church, George M.
影响因子：
1.1
作者：
T. Miyazawa;M. Nakano;Y. Takemura;K. Miyazaki;H. Yanagida;S. Fujita;K. Sugimoto;M. Okada;T. Takemura
通讯作者：
T. Miyazawa;M. Nakano;Y. Takemura;K. Miyazaki;H. Yanagida;S. Fujita;K. Sugimoto;M. Okada;T. Takemura
影响因子：
2.9
作者：
Gibbs HC;Chang-Gonzalez A;Hwang W;Yeh AT;Lekven AC
通讯作者：
Lekven AC
影响因子：
4.6
作者：
M. Torres;Emilia Gómez-Pardo;G. Dressler;Peter Gruss
通讯作者：
M. Torres;Emilia Gómez-Pardo;G. Dressler;Peter Gruss
影响因子：
4.6
作者：
Miguel Torres;Emilia Gómez-Pardo;Peter Gruss
通讯作者：
Miguel Torres;Emilia Gómez-Pardo;Peter Gruss