Neuronal Splicing Regulator RBFOX3 (NeuN) Regulates Adult Hippocampal Neurogenesis and Synaptogenesis

PLoS One. 2016 Oct 4;11(10):e0164164. doi: 10.1371/journal.pone.0164164. eCollection 2016.

Abstract

Dysfunction of RBFOX3 has been identified in neurodevelopmental disorders such as autism spectrum disorder, cognitive impairments and epilepsy and a causal relationship with these diseases has been previously demonstrated with Rbfox3 homozygous knockout mice. Despite the importance of RBFOX3 during neurodevelopment, the function of RBFOX3 regarding neurogenesis and synaptogenesis remains unclear. To address this critical question, we profiled the developmental expression pattern of Rbfox3 in the brain of wild-type mice and analyzed brain volume, disease-relevant behaviors, neurogenesis, synaptic plasticity, and synaptogenesis in Rbfox3 homozygous knockout mice and their corresponding wild-type counterparts. Here we report that expression of Rbfox3 differs developmentally for distinct brain regions. Moreover, Rbfox3 homozygous knockout mice exhibited cold hyperalgesia and impaired cognitive abilities. Focusing on hippocampal phenotypes, we found Rbfox3 homozygous knockout mice displayed deficits in neurogenesis, which was correlated with cognitive impairments. Furthermore, RBFOX3 regulates the exons of genes with synapse-related function. Synaptic plasticity and density, which are related to cognitive behaviors, were altered in the hippocampal dentate gyrus of Rbfox3 homozygous knockout mice; synaptic plasticity decreased and the density of synapses increased. Taken together, our results demonstrate the important role of RBFOX3 during neural development and maturation. In addition, abnormalities in synaptic structure and function occur in Rbfox3 homozygous knockout mice. Our findings may offer mechanistic explanations for human brain diseases associated with dysfunctional RBFOX3.

MeSH terms

  • Animals
  • DNA-Binding Proteins
  • Disease Models, Animal
  • Gene Expression Regulation, Developmental
  • Gene Knockout Techniques
  • Hippocampus / growth & development*
  • Humans
  • Mice
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Neurodevelopmental Disorders / genetics*
  • Neurodevelopmental Disorders / pathology
  • Neurogenesis*
  • Neuronal Plasticity
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Synapses / metabolism*
  • Synapses / pathology

Substances

  • DNA-Binding Proteins
  • Nerve Tissue Proteins
  • NeuN protein, mouse
  • Nuclear Proteins

Grants and funding

This work was funded by the Ministry of Science and Technology, Taiwan (NSC 102-2320-B-002- 001, MOST 103-2320-B-002-057 and MOST 104-2314-B-002-078-MY3 to H-S.H.), and National Taiwan University (AIM for Top University Excellent Research Project, 102C101-42 and 103R4000 to H-S.H. and S.S.G.). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.