scholarly journals Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

2012 ◽  
Vol 44 (4) ◽  
pp. 435-439 ◽  
Author(s):  
Cornelis A Albers ◽  
Dirk S Paul ◽  
Harald Schulze ◽  
Kathleen Freson ◽  
Jonathan C Stephens ◽  
...  
Keyword(s):  
Low Frequency ◽  
Exon Junction Complex ◽  
Null Mutation ◽  
Exon Junction ◽  
Tar Syndrome

Structural insights into the exon junction complex

2008 ◽  
Vol 18 (1) ◽  
pp. 112-119 ◽  
Author(s):  
Hervé Le Hir ◽  
Gregers Rom Andersen
Keyword(s):  
Exon Junction Complex ◽  
Exon Junction ◽  
Structural Insights

scholarly journals The Exon Junction Complex Core Represses Cancer-Specific Mature mRNA Re-Splicing: A Potential Key Role in Terminating Splicing

2021 ◽  
Vol 22 (12) ◽  
pp. 6519
Author(s):  
Yuta Otani ◽  
Ken-ichi Fujita ◽  
Toshiki Kameyama ◽  
Akila Mayeda
Keyword(s):  
Cancer Cells ◽  
Control Factor ◽  
Exon Junction Complex ◽  
Core Component ◽  
Normal Cells ◽  
Knock Down ◽  
Exon Junction ◽  
Mature Mrna ◽  
Complex Core ◽  
Specific Mrna

Using TSG101 pre-mRNA, we previously discovered cancer-specific re-splicing of mature mRNA that generates aberrant transcripts/proteins. The fact that mRNA is aberrantly re-spliced in various cancer cells implies there must be an important mechanism to prevent deleterious re-splicing on the spliced mRNA in normal cells. We thus postulated that mRNA re-splicing is controlled by specific repressors, and we searched for repressor candidates by siRNA-based screening for mRNA re-splicing activity. We found that knock-down of EIF4A3, which is a core component of the exon junction complex (EJC), significantly promoted mRNA re-splicing. Remarkably, we could recapitulate cancer-specific mRNA re-splicing in normal cells by knock-down of any of the core EJC proteins, EIF4A3, MAGOH, or RBM8A (Y14), implicating the EJC core as the repressor of mRNA re-splicing often observed in cancer cells. We propose that the EJC core is a critical mRNA quality control factor to prevent over-splicing of mature mRNA.

scholarly journals Functional interconnections of Arabidopsis exon junction complex proteins and genes at multiple steps of gene expression

2011 ◽  
Vol 62 (14) ◽  
pp. 5025-5036 ◽  
Author(s):  
Eduardo F. Mufarrege ◽  
Daniel H. Gonzalez ◽  
Graciela C. Curi
Keyword(s):  
Gene Expression ◽  
Exon Junction Complex ◽  
Exon Junction
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