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

Shravan Asthana, Hannah Martin, Julian Rupkey, Shray Patel, Joy Yoon, Abiageal Keegan, Yingwei Mao

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations

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.

Original languageEnglish (US)
Article number1192
JournalCells
Volume11
Issue number7
DOIs
StatePublished - Apr 1 2022

All Science Journal Classification (ASJC) codes

  • General Medicine

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