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

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...
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
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...

You might also read

Related Articles

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

Sort by
Same author

Gingival phenotype assessment: a comparative study of a novel CBCT-based measurement technique and transgingival probing.

BMC oral health·2026
Same author

Quantitative measurement of cutaneous neurofibromas in neurofibromatosis type 1 using a structured-light scanner.

Quantitative imaging in medicine and surgery·2026
Same author

Divergence in intra-tumor variant frequencies in sporadic vestibular schwannomas as a potential indication for mosaic NF2-related schwannomatosis?

Neurogenetics·2026
Same author

Clinical Parameters and Radiomics of Vestibular Schwannomas in NF2-related Schwannomatosis.

Anticancer research·2026
Same author

A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report.

Journal of medical case reports·2025
Same author

Sclerotherapy With Polidocanol Is Highly Effective for Treating Oral Cavernous Hemangiomas in Children.

In vivo (Athens, Greece)·2025

Related Experiment Video

Updated: Jun 2, 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

Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.

James R Ellis1, Bianca Heinrich, Victor-F Mautner

  • 1Laboratory of Bioengineering and Physical Science, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, MD 20892-5766, USA. jrellis@helix.nih.gov

Genes, Chromosomes & Cancer
|May 13, 2011
PubMed
Summary

Investigating splicing mutations in the NF2 gene, this study found that transcript analysis revealed exon skipping or cryptic splicing in 17 of 22 mutations. Information theory analysis aids in understanding these complex NF2 gene mutation effects.

More Related Videos

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

Related Experiment Videos

Last Updated: Jun 2, 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

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • The NF2 gene plays a crucial role in cell growth and tumor suppression.
  • Splicing mutations can lead to aberrant protein products and disease.
  • Understanding the impact of NF2 mutations is vital for genetic diagnostics.

Purpose of the Study:

  • To investigate the functional consequences of 22 putative splicing mutations in the NF2 gene.
  • To evaluate the utility of transcript analysis and information theory in predicting mutation effects.
  • To elucidate the complex mechanisms underlying NF2 splicing defects.

Main Methods:

  • Transcript analysis was performed to detect alterations in gene expression.
  • Information theory-based models were employed for prediction of splicing outcomes.
  • Mutations were categorized based on their location within or outside canonical splicing regions.

Main Results:

  • Seventeen out of 22 NF2 mutations resulted in exon skipping or activation of cryptic splicing sites.
  • Information theory predictions showed concordance with experimental findings for 14 mutations.
  • Two intronic mutations and three mutations in broader splicing regions did not show detectable transcript alterations.

Conclusions:

  • Splicing mutations in the NF2 gene often have complex functional consequences.
  • Information theory-based analysis is a valuable tool for predicting and understanding splicing mutation effects.
  • This study highlights the intricate nature of genetic mutations and their impact on gene function.