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Related Concept Videos

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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RNA Splicing01:32

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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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Pre-mRNA Processing: RNA Splicing01:36

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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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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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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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A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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Pre-mRNA splicing-associated diseases and therapies.

Sierra L Love1,2, Joseph D Emerson3, Kazunori Koide3

  • 1Genetics Training Program, University of Wisconsin-Madison, Madison, WI, USA.

RNA Biology
|August 2, 2023
PubMed
Summary

Pre-mRNA splicing by the spliceosome is vital for gene expression. Mutations cause spliceosomopathies, leading to diseases like cancer, but new drugs offer targeted treatments.

Keywords:
SF3B1SMAcancerpre-mRNA splicingsnRNAspliceosomespliceosomopathysplicing inhibitorsplicing modulator

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Area of Science:

  • Molecular Biology
  • Genetics
  • Pharmacology

Background:

  • Precursor mRNA (pre-mRNA) splicing is a fundamental process in human gene expression, executed by the spliceosome.
  • Dysregulation of the spliceosome can lead to various human diseases, termed spliceosomopathies, including cancers and blindness.

Purpose of the Study:

  • To introduce the human pre-mRNA splicing machinery.
  • To explore the link between splicing defects and human diseases.
  • To discuss emerging spliceosome-targeted therapies.

Main Methods:

  • Review of existing literature on pre-mRNA splicing.
  • Analysis of the role of spliceosome components in disease.
  • Examination of the mechanisms of action for drugs affecting splicing.

Main Results:

  • The spliceosome's critical role in shaping the transcriptome is highlighted.
  • A spectrum of diseases associated with spliceosome dysfunction is presented.
  • Several drugs that modulate splicing outcomes are discussed.

Conclusions:

  • Understanding spliceosomopathies is crucial for developing novel therapeutic strategies.
  • Targeting the spliceosome offers a promising avenue for treating genetic disorders and cancers.
  • Future research will likely focus on refining spliceosome-targeted treatments.