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RNA Splicing

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...

RNA Splicing

RNA Splicing

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

Alternative RNA Splicing

Alternative RNA Splicing

Nonsense-mediated mRNA Decay

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...

Nonsense-mediated mRNA Decay

Nonsense-mediated mRNA Decay

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Related Experiment Video

Updated: Mar 12, 2026

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

Molecular Pathways: Understanding and Targeting Mutant Spliceosomal Proteins.

Akihide Yoshimi¹, Omar Abdel-Wahab^2,3

¹Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College, New York, New York.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research

|November 13, 2016

Summary

Alterations in the spliceosome, a complex regulating gene expression, are linked to cancer. Targeting these spliceosome mutations offers a promising therapeutic strategy for leukemias and MYC-driven cancers.

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ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

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Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Area of Science:

Molecular Biology
Cancer Genetics
Drug Discovery

Background:

Splicing of precursor messenger RNA (pre-mRNA) is essential for gene expression, with the spliceosome complex playing a central role.
Aberrant splicing mechanisms, particularly mutations in spliceosomal proteins, are increasingly recognized as drivers of cancer pathogenesis.
These spliceosomal mutations are prevalent in myeloid and lymphoid leukemias, highlighting their significance in cancer development.

Purpose of the Study:

To review the mechanisms by which altered splicing contributes to cancer.
To discuss the therapeutic potential of targeting spliceosomes in cancer treatment.
To highlight recent advances and ongoing clinical trials in spliceosome modulation for cancer therapy.

Main Methods:

Review of current literature on spliceosome function and its role in cancer.
Analysis of studies investigating pharmacologic modulation of splicing.
Examination of preclinical and clinical data on spliceosome-targeting therapies.

Main Results:

Mutations in spliceosomal proteins are common in leukemias and can be therapeutically targeted.
Pharmacologic modulation of splicing can be selectively lethal to cancer cells with spliceosomal mutations.
Targeting the SF3B complex is a promising strategy, with a clinical trial initiated for a novel oral compound.

Conclusions:

Understanding the mechanistic basis of altered spliceosomal function in cancer is crucial.
Spliceosome modulatory compounds show potential as a therapeutic strategy for various cancers.
Further preclinical studies and well-designed clinical trials are needed to evaluate these novel therapies.