| First Author | Wang QW | Year | 2023 |
| Journal | Cell Rep | Volume | 42 |
| Issue | 7 | Pages | 112691 |
| PubMed ID | 37354460 | Mgi Jnum | J:338430 |
| Mgi Id | MGI:7511311 | Doi | 10.1016/j.celrep.2023.112691 |
| Citation | Wang QW, et al. (2023) 16p11.2 CNV gene Doc2alpha functions in neurodevelopment and social behaviors through interaction with Secretagogin. Cell Rep 42(7):112691 |
| abstractText | 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. Doc2alpha is localized within this locus. Here, using in vivo and ex vivo electrophysiological and morphological approaches, we show that Doc2alpha-deficient mice have neuronal morphological abnormalities and defects in neural activity. Moreover, the Doc2alpha-deficient mice exhibit social and repetitive behavioral deficits. Furthermore, we demonstrate that Doc2alpha 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 Doc2alpha-interacting activity. Therefore, Doc2alpha likely contributes to neurodevelopmental disorders through its interaction with SCGN. |
