16p11.2 CNV gene Doc2α functions in neurodevelopment and social behaviors through interaction with Secretagogin.
16p11.2
CP: Developmental biology
CP: Neuroscience
Doc2α
SCGN
neurodevelopmental disorder
social behavior
Journal
Cell reports
ISSN: 2211-1247
Titre abrégé: Cell Rep
Pays: United States
ID NLM: 101573691
Informations de publication
Date de publication:
25 07 2023
25 07 2023
Historique:
received:
12
10
2022
revised:
22
04
2023
accepted:
08
06
2023
medline:
31
7
2023
pubmed:
24
6
2023
entrez:
24
6
2023
Statut:
ppublish
Résumé
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. Doc2α is localized within this locus. Here, using in vivo and ex vivo electrophysiological and morphological approaches, we show that Doc2α-deficient mice have neuronal morphological abnormalities and defects in neural activity. Moreover, the Doc2α-deficient mice exhibit social and repetitive behavioral deficits. Furthermore, we demonstrate that Doc2α 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 Doc2α-interacting activity. Therefore, Doc2α likely contributes to neurodevelopmental disorders through its interaction with SCGN.
Identifiants
pubmed: 37354460
pii: S2211-1247(23)00702-7
doi: 10.1016/j.celrep.2023.112691
pii:
doi:
Substances chimiques
Secretagogins
0
Doc2a protein, mouse
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
112691Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of interests The authors declare no competing interests.