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The exon junction complex in neural development and neurodevelopmental disease.

Publication ,  Journal Article
McMahon, JJ; Miller, EE; Silver, DL
Published in: Int J Dev Neurosci
December 2016

Post-transcriptional mRNA metabolism has emerged as a critical regulatory nexus in proper development and function of the nervous system. In particular, recent studies highlight roles for the exon junction complex (EJC) in neurodevelopment. The EJC is an RNA binding complex composed of 3 core proteins, EIF4A3 (DDX48), RBM8A (Y14), and MAGOH, and is a major hub of post-transcriptional regulation. Following deposition onto mRNA, the EJC serves as a platform for the binding of peripheral factors which together regulate splicing, nonsense mediated decay, translation, and RNA localization. While fundamental molecular roles of the EJC have been well established, the in vivo relevance in mammals has only recently been examined. New genetic models and cellular assays have revealed core and peripheral EJC components play critical roles in brain development, stem cell function, neuronal outgrowth, and neuronal activity. Moreover, human genetics studies increasingly implicate EJC components in the etiology of neurodevelopmental disorders. Collectively, these findings indicate that proper dosage of EJC components is necessary for diverse aspects of neuronal development and function. Going forward, genetic models of EJC components will provide valuable tools for further elucidating functions in the nervous system relevant for neurodevelopmental disease.

Duke Scholars

Published In

Int J Dev Neurosci

DOI

EISSN

1873-474X

Publication Date

December 2016

Volume

55

Start / End Page

117 / 123

Location

United States

Related Subject Headings

  • RNA-Binding Proteins
  • Neurology & Neurosurgery
  • Neurogenesis
  • Neurodevelopmental Disorders
  • Humans
  • Exons
  • Animals
  • 5202 Biological psychology
  • 3209 Neurosciences
  • 1702 Cognitive Sciences
 

Citation

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ICMJE
MLA
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McMahon, J. J., Miller, E. E., & Silver, D. L. (2016). The exon junction complex in neural development and neurodevelopmental disease. Int J Dev Neurosci, 55, 117–123. https://doi.org/10.1016/j.ijdevneu.2016.03.006
McMahon, J. J., E. E. Miller, and D. L. Silver. “The exon junction complex in neural development and neurodevelopmental disease.Int J Dev Neurosci 55 (December 2016): 117–23. https://doi.org/10.1016/j.ijdevneu.2016.03.006.
McMahon JJ, Miller EE, Silver DL. The exon junction complex in neural development and neurodevelopmental disease. Int J Dev Neurosci. 2016 Dec;55:117–23.
McMahon, J. J., et al. “The exon junction complex in neural development and neurodevelopmental disease.Int J Dev Neurosci, vol. 55, Dec. 2016, pp. 117–23. Pubmed, doi:10.1016/j.ijdevneu.2016.03.006.
McMahon JJ, Miller EE, Silver DL. The exon junction complex in neural development and neurodevelopmental disease. Int J Dev Neurosci. 2016 Dec;55:117–123.
Journal cover image

Published In

Int J Dev Neurosci

DOI

EISSN

1873-474X

Publication Date

December 2016

Volume

55

Start / End Page

117 / 123

Location

United States

Related Subject Headings

  • RNA-Binding Proteins
  • Neurology & Neurosurgery
  • Neurogenesis
  • Neurodevelopmental Disorders
  • Humans
  • Exons
  • Animals
  • 5202 Biological psychology
  • 3209 Neurosciences
  • 1702 Cognitive Sciences