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Related Concept Videos

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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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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Genomics of alternative splicing: evolution, development and pathophysiology.

Eric R Gamazon1, Barbara E Stranger

  • 1Section of Genetic Medicine, Department of Medicine, The University of Chicago, KCBD 3220D, 900 East 57th Street, Chicago, IL, 60637-1234, USA, egamazon@uchicago.edu.

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Summary
This summary is machine-generated.

Alternative splicing generates proteomic diversity in humans, with nearly 90% of genes affected. Understanding splicing variation is crucial for disease insights and developing novel molecular therapies.

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Area of Science:

  • Molecular Biology
  • Genomics
  • Proteomics

Background:

  • Alternative splicing is a key mechanism in metazoans for generating proteomic diversity.
  • Approximately 90% of human protein-coding genes undergo alternative splicing, significantly impacting genome evolution and development.
  • Dysregulation of splicing is implicated in various diseases, presenting therapeutic opportunities.

Purpose of the Study:

  • To review recent advancements in understanding alternative splicing.
  • To highlight the role of genomic data in advancing splicing research.
  • To emphasize the significance of human splicing variation in disease and therapeutic strategies.

Main Methods:

  • Genomic analyses of alternative splicing.
  • Review of recent literature on alternative splicing.
  • Integration of large-scale genomic data.

Main Results:

  • Alternative splicing universally shapes genome evolution and developmental processes.
  • Transcriptome regulation through alternative splicing influences phenotype.
  • Aberrant splicing is a driver of pathophysiology.

Conclusions:

  • Recent progress, fueled by genomic data, has deepened our understanding of alternative splicing.
  • Human splicing variation has profound implications for disease.
  • Reprogramming aberrant splicing offers promising avenues for molecular therapy.