影响因子：10.0

DOI码：10.1016/j.celrep.2023.112691

所属单位：Beihang University

发表刊物：Cell Reports

刊物所在地：美国

摘要：Copy-number variations (CNVs) of the human 16p11.2 genetic locus are associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) and schizophrenia. However, it remains largely unclear how this locus is involved in the disease pathogenesis. Doc2a is localized within this locus. Here, using in vivo and ex vivo electrophysiological and morphological approaches, we show that Doc2a-deficient mice have neuronal morphological abnormalities and defects in neural activity. Moreover, the Doc2a-deficient mice exhibit social and repetitive behavioral deficits. Furthermore, we demonstrate that Doc2a functions in behavioral and neural phenotypes through interaction with Secretagogin (SCGN). Finally, we demonstrate that SCGN functions in social/repetitive behaviors, glutamate release, and neuronal morphology of the mice through its Doc2a-interacting activity. Therefore, Doc2a likely contributes to neurodevelopmental disorders through its interaction with SCGN.

论文类型：Research

一级学科：生物医学工程

文献类型：期刊

卷号：42

期号：7

页面范围：112691

字数：9000

是否译文：否

发表时间：2023-06-22

收录刊物：SCI