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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.
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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

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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.
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Exon Recombination02:32

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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Early Splicing Complexes and Human Disease.

Chloe K Nagasawa1,2,3, Mariano A Garcia-Blanco2,3,4,5

  • 1Human Pathophysiology and Translational Medicine Program, Institute for Translational Sciences, University of Texas Medical Branch, Galveston, TX 77555-5302, USA.

International Journal of Molecular Sciences
|July 29, 2023
PubMed
Summary
This summary is machine-generated.

Recent advances in understanding spliceosome structure and function have led to targeted splicing therapeutics for diseases like spinal muscular atrophy. This overview covers early splicing complexes and their link to human health and disease.

Keywords:
Alzheimer’s diseasescancercommitment complexmultiple sclerosispre-spliceosome complexsplicing

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Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Significant progress in understanding spliceosome structure and function over the past decade.
  • Dysregulated splicing is increasingly recognized as a factor in various human diseases.
  • Targeted splicing therapeutics have shown promise in treating conditions such as spinal muscular atrophy and Duchenne muscular dystrophy.

Purpose of the Study:

  • To provide an overview of the composition and assembly of early splicing complexes.
  • To discuss the association of these early splicing complexes with human disease.
  • To highlight the critical role of proper splicing in maintaining human health.

Main Methods:

  • Review of current scientific literature on spliceosome dynamics.
  • Analysis of the structural and functional aspects of early splicing complexes (commitment complex and pre-spliceosome).
  • Correlation of splicing complex dysregulation with disease mechanisms.

Main Results:

  • Improved understanding of spliceosome assembly pathways.
  • Identification of specific early splicing complexes involved in disease pathogenesis.
  • Demonstration of the therapeutic potential of targeting splicing pathways.

Conclusions:

  • Proper splicing is essential for human health.
  • Dysregulation of early splicing complexes contributes to disease.
  • Targeted splicing therapeutics represent a promising avenue for disease treatment.