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Related Concept Videos

RNA Splicing01:32

RNA Splicing

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...
RNA Splicing01:32

RNA Splicing

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...
Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
Exon Recombination02:32

Exon Recombination

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 has three reading...
Pre-mRNA Processing: RNA Splicing01:32

Pre-mRNA Processing: RNA Splicing

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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Related Experiment Video

Updated: May 24, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

New connections between splicing and human disease.

Richard A Padgett1

  • 1Department of Molecular Genetics, Cleveland Clinic, Cleveland, OH, USA. padgetr@ccf.org

Trends in Genetics : TIG
|March 9, 2012
PubMed
Summary

Mutations in the minor spliceosome, a key gene expression regulator, are linked to developmental defects and cancer. Understanding these splicing alterations is crucial for disease diagnosis and treatment.

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Gene expression in mammals relies on splicing, a process mediated by spliceosomes.
  • Mammalian cells possess two spliceosome types, but the minor spliceosome's function remains understudied.
  • The minor spliceosome plays a critical role in processing specific intron types.

Purpose of the Study:

  • To investigate the role of the minor spliceosome in gene expression and disease.
  • To explore the implications of mutations in minor spliceosomal components.
  • To understand the contribution of splicing alterations to tumorigenesis and developmental disorders.

Main Methods:

  • Analysis of mutations in minor spliceosomal snRNA (U4atac).
  • Exome deep-sequencing to identify somatic mutations in splicing factors.

More Related Videos

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
11:48

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

Related Experiment Videos

Last Updated: May 24, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
11:48

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

  • Investigating the link between splicing defects and diseases like developmental disorders and cancers.

    • Main Results:

    • Mutations in U4atac are associated with a rare autosomal recessive developmental defect.
    • Recurrent somatic mutations in splicing factors are frequent in certain cancers and pre-cancerous conditions.
    • Alterations in the spliceosome machinery can contribute to tumorigenesis.

    Conclusions:

    • Mis-splicing of essential genes may be the underlying cause of various diseases.
    • Identifying genes affected by mis-splicing and their mechanisms is vital.
    • This research may pave the way for new diagnostic and therapeutic strategies for splicing-related diseases.