Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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...
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...
Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

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...
What is Gene Expression?01:36

What is Gene Expression?

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 processed and...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.

Pigment cell & melanoma research·2026
Same author

Paraplume: A fast and accurate antibody paratope prediction method provides insights into repertoire-scale binding dynamics.

PLoS computational biology·2026
Same author

Discovery and performance of DNA methylation panels for cancer detection and classification in blood.

bioRxiv : the preprint server for biology·2025
Same author

Super-silencers are crucial for development and carcinogenesis in B cells.

Nature communications·2025
Same author

Identification of RNA binding proteins that mediate a quality control mechanism of splicing.

bioRxiv : the preprint server for biology·2025
Same author

A chromosome-level genome assembly of the Hispid cotton rat (Sigmodon hispidus), a model for human pathogenic virus infections.

BMC biology·2025
Same journal

Integrated lipidomic and transcriptomic profiling of the host response in human malaria.

Genome biology·2026
Same journal

Centromeric satellite expansion drives genome evolution in the snowy owl.

Genome biology·2026
Same journal

Mapping the landscape of allele-specific expression in porcine genomes.

Genome biology·2026
Same journal

Genomic sequence evolution underlying human neocortical interareal diversification.

Genome biology·2026
Same journal

Regulatory mechanisms driven by functional 3'-UTR variants in alcohol use disorder and related traits.

Genome biology·2026
Same journal

A longitudinal single-nucleus transcriptomic atlas of bovine placentation reveals dynamic cellular hierarchies and regulatory programs.

Genome biology·2026
See all related articles

Related Experiment Video

Updated: Jun 16, 2026

Using the E1A Minigene Tool to Study mRNA Splicing Changes
10:25

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Published on: April 22, 2021

Genomic features defining exonic variants that modulate splicing.

Adam Woolfe1, James C Mullikin, Laura Elnitski

  • 1Genomic Functional Analysis Section, National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland 20892, USA. woolfea@mail.nih.gov

Genome Biology
|February 18, 2010
PubMed
Summary
This summary is machine-generated.

Single point mutations in exons can disrupt gene splicing. Our study identifies key features that predict splice-affecting variants and developed a tool, Skippy, to assess these changes.

More Related Videos

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

Related Experiment Videos

Last Updated: Jun 16, 2026

Using the E1A Minigene Tool to Study mRNA Splicing Changes
10:25

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Published on: April 22, 2021

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

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Single point mutations within exons can severely impact gene function by disrupting RNA splicing.
  • Predicting the effects of these mutations in silico is challenging due to incomplete understanding of contributing factors.
  • The informativeness of computational prediction approaches, including those using exonic splicing enhancers (ESEs) and exonic splicing silencers (ESSs), is not well-established.

Purpose of the Study:

  • To identify features that distinguish splice-affecting single nucleotide variants from neutral coding SNPs.
  • To investigate the role of ESEs and ESSs in modulating splicing outcomes.
  • To develop a predictive tool for assessing the splice-modulating potential of coding variants.

Main Methods:

  • Compared features of validated exon-skipping variants with common coding SNPs.
  • Analyzed variant impact on ESE/ESS density, splice junction proximity, and evolutionary constraint.
  • Extended analysis to datasets involving increased exon inclusion and ectopic splice site activation.

Main Results:

  • Identified key features discriminating splice-affecting variants, including ESE/ESS density, changes in ESE/ESS counts, proximity to splice junctions, and evolutionary constraint.
  • Found relevant features for variants causing increased exon inclusion and ectopic splice site activation.
  • Demonstrated statistically significant features among exonic variants that modulate splicing.

Conclusions:

  • Highlighted features with statistically significant representation in splice-modulating exonic variants.
  • Emphasized the role of specific features in exon definition and splicing outcomes.
  • Developed the Skippy web-tool to score coding variants based on splice-modulating features.