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Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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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.
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Alternative RNA Splicing02:18

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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.
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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...
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Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
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Recurrent SRSF2 mutations in MDS affect both splicing and NMD.

Mohammad Alinoor Rahman1, Kuan-Ting Lin1, Robert K Bradley2,3

  • 1Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.

Genes & Development
|February 1, 2020
PubMed
Summary

Mutant SRSF2 splicing factors in blood cancers enhance RNA decay through nonsense-mediated mRNA decay (NMD). This process involves exon junction complex deposition and can be blocked to restore gene expression.

Keywords:
SRSF2leukemiamutationmyelodysplastic syndromesnonsense-mediated mRNA decaysplicingsplicing factor

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Area of Science:

  • Molecular Biology
  • Cancer Genetics
  • RNA Metabolism

Background:

  • Mutations in RNA splicing factors (SRSF2, SF3B1, U2AF1) are prevalent in myelodysplastic syndromes and other cancers.
  • These mutations induce genome-wide splicing alterations impacting hematopoietic regulators.
  • Aberrant splicing can produce transcripts targeted for nonsense-mediated mRNA decay (NMD).

Purpose of the Study:

  • To investigate the specific role of mutant SRSF2 in nonsense-mediated mRNA decay (NMD).
  • To elucidate the molecular mechanisms linking SRSF2 mutations to enhanced mRNA decay.

Main Methods:

  • Analysis of SRSF2 Pro95 hotspot mutations.
  • Assessment of RNA binding and splicing-dependent mRNA decay.
  • Investigation of exon junction complex (EJC) deposition.
  • Experimental blocking of EJC deposition using antisense oligonucleotides.

Main Results:

  • SRSF2 Pro95 mutations significantly enhance mRNA decay in a splicing-dependent manner.
  • Mutant SRSF2 promotes increased EJC deposition downstream of premature termination codons (PTCs).
  • Antisense oligonucleotide-mediated blocking of EJC deposition restores expression of PTC-containing transcripts.

Conclusions:

  • Mutant SRSF2 plays a critical role in promoting aberrant NMD in hematologic malignancies.
  • The mechanism involves enhanced EJC deposition, facilitating NMD.
  • Targeting EJC deposition offers a potential therapeutic strategy to counteract mutant SRSF2 effects.