Impact Factor:10.0
DOI number:10.1016/j.celrep.2023.112691
Affiliation of Author(s):Beihang University
Journal:Cell Reports
Place of Publication:美国
Abstract: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.
Indexed by:Research
First-Level Discipline:Biomedical Engineering
Document Type:J
Volume:42
Issue:7
Page Number:112691
Number of Words:9000
Translation or Not:no
Date of Publication:2023-06-22
Included Journals:SCI