RT Journal Article SR Electronic T1 The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice JF bioRxiv FD Cold Spring Harbor Laboratory SP 260083 DO 10.1101/260083 A1 Da-li Tong A1 Rui-guo Chen A1 Yu-lan Lu A1 Wei-ke Li A1 Yue-fang Zhang A1 Jun-kai Lin A1 Ling-jie He A1 Ting Dang A1 Shi-fang Shan A1 Xiao-Hong Xu A1 Yi Zhang A1 Chen Zhang A1 Ya-Song Du A1 Wen-Hao Zhou A1 Xiaoqun Wang A1 Zilong Qiu YR 2018 UL http://biorxiv.org/content/early/2018/02/05/260083.abstract AB 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.One Sentence Summary CNTNAP3 is a candidate gene for ASD.