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Volume 11
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10.3390/cells11071192
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Review

The Physiological Roles of the Exon Junction Complex in Development and Diseases

by
Shravan Asthana
,
Hannah Martin
,
Julian Rupkey
,
Shray Patel
,
Joy Yoon
,
Abiageal Keegan
and
Yingwei Mao
*
Department of Biology, Pennsylvania State University, University Park, PA 16802, USA
*
Author to whom correspondence should be addressed.
Cells 2022, 11(7), 1192; https://doi.org/10.3390/cells11071192
Submission received: 28 January 2022 / Revised: 19 March 2022 / Accepted: 24 March 2022 / Published: 1 April 2022
(This article belongs to the Special Issue Molecular Genetics of Neuropsychiatric Diseases)
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Abstract

The exon junction complex (EJC) becomes an increasingly important regulator of early gene expression in the central nervous system (CNS) and other tissues. The EJC is comprised of three core proteins: RNA-binding motif 8A (RBM8A), Mago homolog (MAGOH), eukaryotic initiation factor 4A3 (EIF4A3), and a peripheral EJC factor, metastatic lymph node 51 (MLN51), together with various auxiliary factors. The EJC is assembled specifically at exon-exon junctions on mRNAs, hence the name of the complex. The EJC regulates multiple levels of gene expression, from splicing to translation and mRNA degradation. The functional roles of the EJC have been established as crucial to the normal progress of embryonic and neurological development, with wide ranging implications on molecular, cellular, and organism level function. Dysfunction of the EJC has been implicated in multiple developmental and neurological diseases. In this review, we discuss recent progress on the EJC’s physiological roles.
Keywords: RBM8A; MAGOH; EIF4A3; MLN51; neurodevelopment; NMD; mRNA RBM8A; MAGOH; EIF4A3; MLN51; neurodevelopment; NMD; mRNA

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MDPI and ACS Style

Asthana, S.; Martin, H.; Rupkey, J.; Patel, S.; Yoon, J.; Keegan, A.; Mao, Y. The Physiological Roles of the Exon Junction Complex in Development and Diseases. Cells 2022, 11, 1192. https://doi.org/10.3390/cells11071192

AMA Style

Asthana S, Martin H, Rupkey J, Patel S, Yoon J, Keegan A, Mao Y. The Physiological Roles of the Exon Junction Complex in Development and Diseases. Cells. 2022; 11(7):1192. https://doi.org/10.3390/cells11071192

Chicago/Turabian Style

Asthana, Shravan, Hannah Martin, Julian Rupkey, Shray Patel, Joy Yoon, Abiageal Keegan, and Yingwei Mao. 2022. "The Physiological Roles of the Exon Junction Complex in Development and Diseases" Cells 11, no. 7: 1192. https://doi.org/10.3390/cells11071192

APA Style

Asthana, S., Martin, H., Rupkey, J., Patel, S., Yoon, J., Keegan, A., & Mao, Y. (2022). The Physiological Roles of the Exon Junction Complex in Development and Diseases. Cells, 11(7), 1192. https://doi.org/10.3390/cells11071192

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