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Related Concept Videos

RNA Splicing01:32

RNA Splicing

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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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Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

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In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

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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.
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...
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Nuclear Export of mRNA02:31

Nuclear Export of mRNA

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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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Pre-mRNA Processing: Modification of pre-mRNA Ends01:35

Pre-mRNA Processing: Modification of pre-mRNA Ends

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In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a cap to the 5' end of the growing transcript. In this process, a 5' phosphate is replaced by modified guanosine that has a methyl group attached (7-methyl guanosine). This 5' cap helps...
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pre-mRNA Processing02:01

pre-mRNA Processing

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In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl...
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Updated: Jun 12, 2025

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
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Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

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Aberrant pre-mRNA processing in cancer.

Jeetayu Biswas1,2, Leora Boussi2, Eytan Stein2

  • 1Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

The Journal of Experimental Medicine
|September 24, 2024
PubMed
Summary
This summary is machine-generated.

Cancer involves errors in RNA processing, particularly splicing factor mutations common in blood cancers. Understanding these changes offers new therapeutic strategies for selective cancer cell toxicity.

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Area of Science:

  • Molecular Biology
  • Oncology
  • Genetics

Background:

  • Gene expression relies on accurate information flow from DNA to RNA to protein.
  • Dysregulation of this process is a hallmark of all cancer types.
  • RNA processing, especially splicing, is frequently altered in malignancies.

Purpose of the Study:

  • To review the current understanding of RNA processing dysregulation in cancer.
  • To focus on mutations in RNA splicing machinery prevalent in hematologic malignancies.
  • To explore therapeutic strategies targeting RNA processing alterations.

Main Methods:

  • Literature review of current research on RNA processing in cancer.
  • Analysis of mutations in RNA splicing factors.
  • Examination of downstream effects and affected pathways.
  • Identification of therapeutic applications and selective toxicity mechanisms.

Main Results:

  • Mutations in RNA splicing factors are highly prevalent in hematologic malignancies.
  • These mutations lead to dysregulated RNA processing with significant downstream effects.
  • Specific genes and common pathways are perturbed by these splicing factor mutations.
  • Alterations in RNA processing can be exploited for therapeutic benefit.

Conclusions:

  • Dysregulated RNA processing, particularly via splicing factor mutations, is critical in cancer development.
  • Targeting these RNA processing defects presents promising therapeutic avenues for hematologic malignancies.
  • Understanding these mechanisms enhances strategies for selective cancer cell killing.