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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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Alternative RNA Splicing02:18

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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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What is Gene Expression?01:36

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A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
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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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Exon Recombination02:32

Exon Recombination

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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. 
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Related Experiment Video

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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Alternative Splicing Regulatory Networks: Functions, Mechanisms, and Evolution.

Jernej Ule1, Benjamin J Blencowe2

  • 1The Francis Crick Institute, London NW1 1AT, UK; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.

Molecular Cell
|October 19, 2019
PubMed
Summary

High-throughput sequencing has transformed the study of alternative splicing, revealing complex regulatory networks and protein-RNA interactions. Further research is needed to understand splice variant functions in health and disease.

Keywords:
RNA mapRNP condensatealternative splicingcryptic splice siteevolutionexon definitionmicroexonmultivalencyphase separationrecursive splicing

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Area of Science:

  • Molecular Biology
  • Genomics
  • Bioinformatics

Background:

  • High-throughput sequencing has revolutionized transcriptome studies, particularly in understanding alternative splicing.
  • Discoveries of alternative splicing networks are expanding across diverse cell types and conditions, including normal physiology and disease states.
  • Efforts to define sequence codes and trans-acting factors have illuminated combinatorial splicing regulation principles.

Purpose of the Study:

  • To review recent advancements in understanding alternative splicing.
  • To highlight the roles of sequence codes, trans-acting factors, and protein-RNA interactions in splicing.
  • To emphasize the need for community-driven efforts to functionally characterize splice variants.

Main Methods:

  • High-throughput sequencing technologies
  • Bioinformatic analysis of transcriptomes
  • Studies on RNA binding proteins and cis elements
  • Evolutionary analysis of splicing components

Main Results:

  • Identification of extensive alternative splicing networks in various biological contexts.
  • Elucidation of sequence codes and trans-acting factors governing splicing regulation.
  • Understanding of position-dependent, multivalent protein-RNA interactions in splicing outcomes.
  • Insights into the evolution and functional emergence of splicing networks.

Conclusions:

  • Alternative splicing is a key regulatory mechanism with significant implications for normal biology and disease.
  • A coordinated, community-based approach is essential for systematically investigating the functions of individual splice variants.
  • Further research is crucial to fully understand the roles of splice variants in health and disease states.