A Jacob/Nsmf Gene Knockout Results in Hippocampal Dysplasia and Impaired BDNF Signaling in Dendritogenesis

PLoS Genet. 2016 Mar 15;12(3):e1005907. doi: 10.1371/journal.pgen.1005907. eCollection 2016 Mar.

Abstract

Jacob, the protein encoded by the Nsmf gene, is involved in synapto-nuclear signaling and docks an N-Methyl-D-Aspartate receptor (NMDAR)-derived signalosome to nuclear target sites like the transcription factor cAMP-response-element-binding protein (CREB). Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with anosmia or hyposmia. It has also been reported that a protein knockdown results in migration deficits of Gonadotropin-releasing hormone (GnRH) positive neurons from the olfactory bulb to the hypothalamus during early neuronal development. Here we show that mice that are constitutively deficient for the Nsmf gene do not present phenotypic characteristics related to KS. Instead, these mice exhibit hippocampal dysplasia with a reduced number of synapses and simplification of dendrites, reduced hippocampal long-term potentiation (LTP) at CA1 synapses and deficits in hippocampus-dependent learning. Brain-derived neurotrophic factor (BDNF) activation of CREB-activated gene expression plays a documented role in hippocampal CA1 synapse and dendrite formation. We found that BDNF induces the nuclear translocation of Jacob in an NMDAR-dependent manner in early development, which results in increased phosphorylation of CREB and enhanced CREB-dependent Bdnf gene transcription. Nsmf knockout (ko) mice show reduced hippocampal Bdnf mRNA and protein levels as well as reduced pCREB levels during dendritogenesis. Moreover, BDNF application can rescue the morphological deficits in hippocampal pyramidal neurons devoid of Jacob. Taken together, the data suggest that the absence of Jacob in early development interrupts a positive feedback loop between BDNF signaling, subsequent nuclear import of Jacob, activation of CREB and enhanced Bdnf gene transcription, ultimately leading to hippocampal dysplasia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain-Derived Neurotrophic Factor / genetics*
  • Brain-Derived Neurotrophic Factor / metabolism
  • Cyclic AMP Response Element-Binding Protein / metabolism
  • Dendrites / metabolism*
  • Gene Expression Regulation, Developmental
  • Gonadotropin-Releasing Hormone / metabolism
  • Hippocampus / growth & development*
  • Hippocampus / metabolism
  • Mice
  • Mice, Knockout
  • Nerve Tissue Proteins / genetics*
  • Neurons / metabolism
  • Phosphorylation
  • RNA, Messenger / biosynthesis
  • Signal Transduction
  • Synapses / genetics
  • Synapses / metabolism

Substances

  • Brain-Derived Neurotrophic Factor
  • Cyclic AMP Response Element-Binding Protein
  • Jacob protein, mouse
  • Nerve Tissue Proteins
  • RNA, Messenger
  • Gonadotropin-Releasing Hormone

Grants and funding

GMG was supported by the Alexander-von-Humboldt Foundation (www.avh.de), KMG by EU-PP7 MC-ITN NPlast (www.nplast.de), and IB by Deutsche Forschungsgemeinschaft GRK 1167 (www.dfg.de). This work was supported by grants from the Bundesministerium für Forschung und Technologie (www.bmbf.de BMBF/Energi), Deutsche Forschungsgemeinschaft (SFB779 TP B08, Kr1879 /5-1, Kr1879 / 6-1), JPND (www.jpnd.de / STAD), Leibniz Foundation (Pakt für Forschung), People Programme (Marie Curie Actions) of the European Union's Seventh Framework Programme FP7/2007-2013/ under REA grant agreement n° [289581] NPlast to MRK, Deutsche Forschungsgemeinschaft Emmy-Noether Programm (Ml 1923/1-1) to MM, Deutsche Forschungsgemeinschaft Sto488/4-1 and SFB779 TP B05 to OS, SFB TP B01 to FWO. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.