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

Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

12.0K
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,...
12.0K
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

3.5K
3.5K
Nuclear Export of mRNA02:31

Nuclear Export of mRNA

8.9K
Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
8.9K
Alternative RNA Splicing02:18

Alternative RNA Splicing

25.3K
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...
25.3K
Alternative RNA Splicing02:18

Alternative RNA Splicing

5.2K
5.2K
mRNA Stability and Gene Expression02:51

mRNA Stability and Gene Expression

6.7K
The structure and stability of mRNA molecules regulates gene expression, as mRNAs are a key step in the pathway from gene to protein. In eukaryotes, the half-life of mRNA varies from a few minutes up to several days. mRNA stability is essential in growth and development. The absence of the proteins regulating its stability, such as tristetraprolin in mice, can cause systemic issues, including bone marrow overgrowth, inflammation, and autoimmunity.
Cis-acting Elements involved in mRNA stability
6.7K

You might also read

Related Articles

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

Sort by
Same author

FAIR in practice: minimum metadata schema for bioinformatics analytics by machines.

Journal of biomedical semantics·2026
Same author

Transcription-based identification of uncharacterized genes in the human immune response.

European journal of human genetics : EJHG·2026
Same author

KG-bench: benchmarking graph neural network algorithms for drug repurposing.

Bioinformatics (Oxford, England)·2026
Same author

Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1.

Neuropathology and applied neurobiology·2026
Same author

Spatial protein expression patterns across pathologically-associated fibers revealed molecular specialization in inclusion body myositis.

Cell communication and signaling : CCS·2026
Same author

Cell-surface RNA forms ternary complex with RNA-binding proteins and heparan sulfate to recruit immune receptors.

Molecular cell·2025

Related Experiment Video

Updated: Feb 19, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

6.5K

Dysfunctional transcripts are formed by alternative polyadenylation in OPMD.

Vered Raz1, George Dickson2, Peter A C 't Hoen1

  • 1Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

Oncotarget
|November 2, 2017
PubMed
Summary

Reduced PABPN1 levels in Oculopharyngeal muscular dystrophy (OPMD) impair nuclear export and translation of autophagy-related gene (ATG) transcripts. This leads to reduced autophagy flux, suggesting PABPN1-mediated alternative polyadenylation (APA) is crucial for muscle health.

Keywords:
GerotargetPABPN1aging musclesalternative polyadenylation siteautophagymRNA processing

More Related Videos

Author Spotlight: Exploring the Frontier of mRNA Research with Poly A Tail Analysis Techniques
08:16

Author Spotlight: Exploring the Frontier of mRNA Research with Poly A Tail Analysis Techniques

Published on: January 12, 2024

1.5K
A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells
06:48

A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells

Published on: June 16, 2022

2.4K

Related Experiment Videos

Last Updated: Feb 19, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

6.5K
Author Spotlight: Exploring the Frontier of mRNA Research with Poly A Tail Analysis Techniques
08:16

Author Spotlight: Exploring the Frontier of mRNA Research with Poly A Tail Analysis Techniques

Published on: January 12, 2024

1.5K
A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells
06:48

A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells

Published on: June 16, 2022

2.4K

Area of Science:

  • Molecular Biology
  • Cell Biology
  • Genetics

Background:

  • Post-transcriptional mRNA processing, particularly alternative polyadenylation (APA) in the 3'-UTR, influences mRNA stability and function.
  • Poly(A)-binding protein nuclear 1 (PABPN1) regulates APA, and its levels decrease with age and in Oculopharyngeal muscular dystrophy (OPMD).
  • OPMD is a late-onset myopathy linked to PABPN1 mutations, characterized by a shift towards proximal polyadenylation site usage.

Purpose of the Study:

  • To investigate the functional consequences of PABPN1-mediated APA on transcript nuclear export and translation efficiency in OPMD models.
  • To examine the impact of reduced PABPN1 on autophagy-regulated genes (ATGs) utilizing APA.
  • To determine the role of PABPN1-mediated APA in autophagy dysfunction observed in OPMD and aging muscles.

Main Methods:

  • Utilized OPMD cell models with reduced functional PABPN1.
  • Focused on autophagy-regulated genes (ATGs) exhibiting APA.
  • Assessed nuclear export, cytoplasmic abundance, and ribosome occupancy of ATG transcripts.
  • Evaluated autophagosome fusion and autophagy flux.

Main Results:

  • ATG transcripts utilizing distal polyadenylation sites (PAS) showed reduced translation efficiency due to nuclear retention in PABPN1-deficient cells.
  • Transcripts from proximal PAS had increased cytoplasmic abundance but decreased ribosome occupancy.
  • Reduced PABPN1 levels resulted in constitutive autophagosome fusion and impaired autophagy flux.
  • PABPN1 augmentation restored autophagosome fusion.

Conclusions:

  • PABPN1-mediated APA is critical for the efficient translation of ATG transcripts.
  • Dysfunctional APA due to reduced PABPN1 contributes to autophagy defects in OPMD and aging muscles.
  • Restoring PABPN1 function may ameliorate autophagy deficits in these conditions.