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

Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

7.5K
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...
7.5K
Alternative RNA Splicing02:18

Alternative RNA Splicing

22.3K
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...
22.3K
Alternative RNA Splicing02:18

Alternative RNA Splicing

4.2K
4.2K
pre-mRNA Processing02:01

pre-mRNA Processing

54.3K
In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl...
54.3K
RNA Splicing01:32

RNA Splicing

57.9K
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...
57.9K
Pre-mRNA Processing: Modification of pre-mRNA Ends01:35

Pre-mRNA Processing: Modification of pre-mRNA Ends

11.5K
In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a cap to the 5' end of the growing transcript. In this process, a 5' phosphate is replaced by modified guanosine that has a methyl group attached (7-methyl guanosine). This 5' cap helps...
11.5K

You might also read

Related Articles

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

Sort by
Same author

Pure red cell aplasia in a patient with rheumatoid arthritis after JAK inhibitor exposure-diagnostic challenges.

Oxford medical case reports·2026
Same author

Design and Synthesis of Novel Imidazo[4,5-c]pyridine Derivatives, Evaluation of Their Activity Against Hepatitis C Virus and In Silico Prediction of Their Binding Mode to NS4B Protein.

ChemMedChem·2026
Same author

Integrating novel therapeutic strategies in myeloproliferative neoplasms: Driving disease-directed progress.

British journal of haematology·2026
Same author

Retina-specific long non-coding RNAs associated with inherited retinal disease genes.

Cellular and molecular life sciences : CMLS·2026
Same author

Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation.

Nature communications·2026
Same author

Minimally Invasive Surgery/Robotic Surgery in Small Bowel Cancer.

Surgical oncology clinics of North America·2026

Related Experiment Video

Updated: Oct 24, 2025

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

5.1K

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.

Chunbo Yang1, Maria Georgiou1, Robert Atkinson1

  • 1Biosciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.

Frontiers in Cell and Developmental Biology
|August 16, 2021
PubMed
Summary

Mutations in pre-mRNA processing factors cause retinitis pigmentosa (RP) by disrupting RNA splicing and other cellular functions. This review explores RP-PRPF gene roles, disease mechanisms, and therapeutic strategies for inherited retinal diseases.

Keywords:
DNA damage and repairanimal modelscircadian rhythmgene therapypre-mRNA processing factorretinitis pigmentosaspliceosomesplicing

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

2.9K
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

9.1K

Related Experiment Videos

Last Updated: Oct 24, 2025

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

5.1K
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

2.9K
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

9.1K

Area of Science:

  • Genetics
  • Molecular Biology
  • Ophthalmology

Background:

  • Retinitis pigmentosa (RP) is a leading inherited retinal disease causing blindness due to photoreceptor degeneration.
  • Mutations in pre-mRNA processing factors (PRPFs) account for 15-20% of autosomal dominant RP (adRP).
  • PRPF mutations lead to spliceosome dysregulation, impacting numerous retinal genes and functions.

Purpose of the Study:

  • To review key RP-PRPF genes and their roles in RNA splicing.
  • To discuss the impact of PRPF mutations on retinal transcriptome and phenome using model organisms.
  • To explore PRPF functions beyond RNA splicing and their role in disease pathogenesis.

Main Methods:

  • Review of existing literature on RP-PRPF genes and their functions.
  • Analysis of data from model species (yeast, zebrafish, mice) to understand disease mechanisms.
  • Discussion of human patient-specific models and emerging gene/cell-based therapies.

Main Results:

  • PRPF mutations cause global spliceosome dysregulation in retinal cells.
  • Affected genes are involved in critical retinal functions like phototransduction and waste disposal.
  • PRPFs have functions beyond RNA splicing, contributing to RP pathogenesis.

Conclusions:

  • Understanding PRPF functions beyond splicing is crucial for a holistic view of RP pathogenesis.
  • Patient-specific models and therapeutic strategies are advancing the treatment of PRPF-RPs.
  • This review facilitates the development of novel therapeutic strategies for PRPF-RP patients.