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

被引：15

作者：

Asthana, Shravan ^{[1
]}

Martin, Hannah ^{[1
]}

Rupkey, Julian ^{[1
]}

Patel, Shray ^{[1
]}

Yoon, Joy ^{[1
]}

Keegan, Abiageal ^{[1
]}

Mao, Yingwei ^{[1
]}

机构：

[1] Penn State Univ, Dept Biol, University Pk, PA 16802 USA

来源：

CELLS | 2022年 / 11卷 / 07期

基金：

美国国家卫生研究院;

关键词：

RBM8A; MAGOH; MLN51; neurodevelopment; NMD; mRNA; MESSENGER-RNA DECAY; NONSENSE-MEDIATED DECAY; CHILDHOOD-ONSET SCHIZOPHRENIA; MAGO NASHI; BINDING PROTEIN; GENE-EXPRESSION; CORE COMPLEX; ENHANCES TRANSLATION; STRUCTURAL INSIGHTS; REVEALS;

D O I：

10.3390/cells11071192

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页数：17

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