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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...
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
CRISPR01:59

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced Short...

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Related Experiment Video

Updated: Jun 18, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
10:06

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on: April 26, 2017

Splicing, cis genetic variation and disease.

Cathy J Jensen1, Brian J Oldfield, Justin P Rubio

  • 1Department of Neurogenetics, Howard Florey Institute, Melbourne, VIC 3010, Australia. cjensen@hfi.unimelb.edu.au

Biochemical Society Transactions
|November 14, 2009
PubMed
Summary
This summary is machine-generated.

RNA splicing, a crucial process where introns are removed and exons joined, is complex. Genetic variations impacting this process can lead to various diseases.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Last Updated: Jun 18, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
10:06

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on: April 26, 2017

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • RNA splicing is a fundamental post-transcriptional modification essential for gene expression in mammals.
  • Both constitutive and alternative splicing are common, allowing for diverse protein products from a single gene.
  • Splicing is regulated by splice site signals and influenced by distant trans-acting factors interacting with cis-regulatory elements.

Purpose of the Study:

  • To provide insights into the intricate mechanisms of RNA splicing regulation.
  • To explore the impact of genetic variations on alternative splicing.
  • To highlight the link between aberrant splicing and human diseases.

Main Methods:

  • This mini-review synthesizes existing research on RNA splicing.
  • It discusses the roles of trans factors and cis elements in splicing regulation.
  • The review examines the consequences of genetic variations on splicing fidelity.

Main Results:

  • Splicing regulation involves complex interactions between multiple factors.
  • Detrimental genetic variations can disrupt normal splicing patterns.
  • Disrupted splicing is implicated in the pathogenesis of numerous diseases.

Conclusions:

  • Understanding the complexity of splicing regulation is vital for comprehending gene expression.
  • Genetic variations affecting splicing represent a significant source of human disease.
  • Further research into splicing mechanisms and disease associations holds therapeutic potential.