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The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice

By Da-li Tong, Rui-guo Chen, Yu-lan Lu, Wei-ke Li, Yue-fang Zhang, Jun-kai Lin, Ling-jie He, Ting Dang, Shi-fang Shan, Xiao-Hong Xu, Yi Zhang, Chen Zhang, Ya-Song Du, Wen-Hao Zhou, Xiaoqun Wang, Zilong Qiu

Posted 05 Feb 2018
bioRxiv DOI: 10.1101/260083 (published DOI: 10.1016/j.nbd.2019.104486)

Accumulated genetic evidences indicate that the contactin associated protein-like (CNTNAP) family is implicated in autism spectrum disorders (ASD). In this study, we identified transmitted genetic mutations in the CNTNAP3 gene from Chinese Han ASD cohorts and Simons Simplex Collections. We found that CNTNAP3 interacted with synaptic adhesion proteins Neuroligin1 and Neuroligin2, as well as scaffolding proteins PSD95 and Gephyrin. Importantly, we found that CNTNAP3 plays an opposite role in controlling development of excitatory and inhibitory synapses in vitro and in vivo, in which ASD mutants exhibited loss-of-function effects. We showed that Cntnap3-null mice exhibited deficits in social interaction and spatial learning. These evidences elucidate the pivotal role of CNTNAP3 in synapse development and social behavior, providing the mechanistic insights for ASD.

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