MEF2C transcription factor is associated with the genetic and epigenetic risk architecture of schizophrenia and improves cognition in mice

Mol Psychiatry. 2018 Jan;23(1):123-132. doi: 10.1038/mp.2016.254. Epub 2017 Jan 24.

Abstract

Large-scale consortia mapping the genomic risk architectures of schizophrenia provide vast amounts of molecular information, with largely unexplored therapeutic potential. We harnessed publically available information from the Psychiatric Genomics Consortium, and report myocyte enhancer factor 2C (MEF2C) motif enrichment in sequences surrounding the top scoring single-nucleotide polymorphisms within risk loci contributing by individual small effect to disease heritability. Chromatin profiling at base-pair resolution in neuronal nucleosomes extracted from prefrontal cortex of 34 subjects, including 17 cases diagnosed with schizophrenia, revealed MEF2C motif enrichment within cis-regulatory sequences, including neuron-specific promoters and superenhancers, affected by histone H3K4 hypermethylation in disease cases. Vector-induced short- and long-term Mef2c upregulation in mouse prefrontal projection neurons consistently resulted in enhanced cognitive performance in working memory and object recognition paradigms at baseline and after psychotogenic drug challenge, in conjunction with remodeling of local connectivity. Neuronal genome tagging in vivo by Mef2c-Dam adenine methyltransferase fusion protein confirmed the link between cognitive enhancement and MEF2C occupancy at promoters harboring canonical and variant MEF2C motifs. The multilayered integrative approaches presented here provide a roadmap to uncover the therapeutic potential of transcriptional regulators for schizophrenia and related disorders.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / metabolism
  • Brain / pathology
  • Chromatin Immunoprecipitation
  • Cognition Disorders* / etiology
  • Cognition Disorders* / metabolism
  • Cognition Disorders* / therapy
  • Computational Biology
  • Disease Models, Animal
  • Epigenomics / methods
  • Gene Expression Regulation / genetics*
  • Green Fluorescent Proteins / genetics
  • Green Fluorescent Proteins / metabolism
  • Histones / genetics
  • Histones / metabolism
  • MEF2 Transcription Factors / genetics*
  • MEF2 Transcription Factors / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Nerve Tissue Proteins / metabolism
  • Neurons / metabolism
  • Polymorphism, Single Nucleotide / genetics*
  • Schizophrenia / complications*
  • Schizophrenia / genetics
  • Schizophrenia / pathology
  • Transduction, Genetic

Substances

  • Histones
  • MEF2 Transcription Factors
  • Nerve Tissue Proteins
  • Green Fluorescent Proteins