Related Experiment Video

Updated: Sep 21, 2025

Methods for Evaluating the Role of c-Fos and Dusp1 in Oncogene Dependence
10:09

Methods for Evaluating the Role of c-Fos and Dusp1 in Oncogene Dependence

Published on: January 7, 2019

8.4K

Cancer-associated mutations in SF3B1 disrupt the interaction between SF3B1 and DDX42

Bo Zhao1,2, Zhuang Li2, Rui Qian1

  • 1China-Japan Union Hospital of Jilin University, Jilin University, Changchun, Jilin 130033, China.

Journal of Biochemistry
|June 2, 2022
PubMed

Insights

Cancer-associated SF3B1 mutations alter RNA splicing. This study reveals RNA helicase DDX42

Area of Science:

  • Molecular Biology
  • Genetics
  • Cancer Research

Background:

  • SF3B1 mutations are linked to cancer and alternative RNA splicing.
  • The precise molecular mechanisms driving SF3B1-mediated splicing alterations remain unclear.

Purpose of the Study:

  • To investigate the molecular mechanisms by which SF3B1 mutations affect RNA splicing.
  • To identify proteins interacting with SF3B1 and their role in splicing regulation.

Main Methods:

  • Protein-protein interaction analysis using wild-type and K700E-mutated SF3B1.
  • Overexpression of RNA helicase DDX42 to assess its impact on SF3B1 interactions and splicing.
  • Assessing the role of DDX42's ATP hydrolysis activity in splicing regulation.

Main Results:

  • Interactions between SF3B1 and RNA helicases DDX42 and DDX46 were reduced upon SF3B1 mutation.
  • DDX42 overexpression restored SF3B1 interaction and suppressed SF3B1-associated alternative splicing.
  • DDX42's ATP hydrolysis activity is crucial for suppressing alternative RNA splicing.

Conclusions:

  • The interaction between DDX42 and SF3B1 plays a key role in regulating RNA splicing.
  • DDX42 is implicated in the altered RNA splicing observed in SF3B1 mutations.
  • DDX42's ATP hydrolysis activity is essential for its regulatory function in splicing.
Keywords:
ATP hydrolysisDDX42SF3B1U2 snRNPalternative splicing

More Related Videos

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

24.5K
Visualization of DNA Repair Proteins Interaction by Immunofluorescence07:55

Visualization of DNA Repair Proteins Interaction by Immunofluorescence

Published on: June 26, 2020

10.4K

Related Concept Videos

Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.6K
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
5.2K
Restarting Stalled Replication Forks02:37

Restarting Stalled Replication Forks

DNA replication is initiated at sites containing predefined DNA sequences known as origins of replication. DNA is unwound at these sites by the minichromosome maintenance (MCM) helicase and other factors such as Cdc45 and the associated GINS complex.The unwound single strands are protected by replication protein A (RPA) until DNA polymerase starts synthesizing DNA at the 5’ end of the strand in the same direction as the replication fork. To prevent the replication fork from falling apart,...
5.9K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.2K
DNA Damage can Stall the Cell Cycle02:37

DNA Damage can Stall the Cell Cycle

In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
9.3K
Fixing Double-strand Breaks02:04

Fixing Double-strand Breaks

The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
12.9K