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...
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,...
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,...

You might also read

Related Articles

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

Sort by
Same author

Moderate-high heritability and QTL associated with Manila clam Ruditapes philippinarum resistance to the parasite Perkinsus olseni.

BMC genomics·2026
Same author

Interactions between macro- and micro-climate: Effects on phenolic compound production in Nardus stricta at high elevations.

Plant biology (Stuttgart, Germany)·2025
Same author

Effects of seed infection by Fusarium verticillioides on maize performance against Sesamia nonagrioides attack.

Physiologia plantarum·2024
Same author

[Therapeutic mechanism of aqueous extract of <i>Semiliquidambar cathayensis</i> Chang root for pancreatic cancer: the active components, therapeutic targets and pathways].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University·2024
Same author

A novel approach to myringotomy simulation.

The Journal of laryngology and otology·2022
Same author

Genome-wide association analysis for fumonisin content in maize kernels.

BMC plant biology·2019

Related Experiment Video

Updated: Jul 9, 2026

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

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

G Loudianos1, M Lovicu, V Dessi

  • 1Ospedale Regionale Microcitemie, Cagliari, Italy. gloudian@mcweb.unica.it

Human Mutation
|September 27, 2002
PubMed
Summary

This study investigates Wilson disease (WD) splice-site mutations, finding that consensus splice-site mutations disrupt normal WD protein production, leading to the disease phenotype.

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

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
07:31

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

Related Experiment Videos

Last Updated: Jul 9, 2026

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

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

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

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
07:31

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Research

Background:

  • Over 200 mutations cause Wilson disease (WD), with missense mutations being common and splice-site mutations rarer.
  • Most WD splice-site mutations occur in donor/acceptor sites, with few studied at the RNA level.

Purpose of the Study:

  • To molecularly characterize four consensus splice-site mutations in the WD gene using RT-PCR.
  • To investigate the impact of these mutations on WD gene RNA splicing in patients.

Main Methods:

  • RT-PCR was used to analyze RNA splicing patterns.
  • Four consensus splice-site mutations (one known, three novel) in the WD gene were studied in patients with WD.

Main Results:

  • Abnormal RNA splicing was prevalent in patients with WD splice-site mutations compared to controls.
  • Differential regulation of abnormal WD gene splicing was observed in liver and lymphocytes.

Conclusions:

  • DNA mutations in WD gene splice sites disrupt normal protein production, contributing to the WD phenotype.
  • Further research is needed to quantify transcript levels and correlate them with disease severity.