TY - JOUR
T1 - The Physiological Roles of the Exon Junction Complex in Development and Diseases
AU - Asthana, Shravan
AU - Martin, Hannah
AU - Rupkey, Julian
AU - Patel, Shray
AU - Yoon, Joy
AU - Keegan, Abiageal
AU - Mao, Yingwei
N1 - Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2022/4/1
Y1 - 2022/4/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85127416034&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85127416034&partnerID=8YFLogxK
U2 - 10.3390/cells11071192
DO - 10.3390/cells11071192
M3 - Review article
C2 - 35406756
AN - SCOPUS:85127416034
SN - 2073-4409
VL - 11
JO - Cells
JF - Cells
IS - 7
M1 - 1192
ER -