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

Mutations01:39

Mutations

94.6K
Overview
94.6K
Mutations01:35

Mutations

44.6K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.6K
Transcription Elongation Factors02:35

Transcription Elongation Factors

14.1K
Transcription elongation is a dynamic process that alters depending upon the sequence heterogeneity of the DNA being transcribed. Hence, it is not surprising that the elongation complex's composition also varies along the way while transcribing a gene.
The transcription elongation is regulated via pausing of RNA polymerase on several occasions during transcription. In bacteria, these halts are necessary because the transcription of DNA into mRNA is coupled to the translation of that mRNA...
14.1K
Transcription Factors02:16

Transcription Factors

82.9K
Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
82.9K
Viral Mutations00:36

Viral Mutations

40.0K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
40.0K
Transcription01:10

Transcription

157.1K
Overview
Transcription is the process of synthesizing RNA from a DNA sequence by RNA polymerase. It is the first step in producing a protein from a gene sequence. Additionally, many other proteins and regulatory sequences are involved in the proper synthesis of messenger RNA (mRNA). Regulation of transcription is responsible for the differentiation of all the different types of cells and often for the proper cellular response to environmental signals.
Transcription Can Produce Different Kinds...
157.1K

You might also read

Related Articles

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

Sort by
Same author

The landscape of variants in pre-mRNA-processing factor genes in an Irish cohort.

Genetics in medicine open·2026
Same author

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.

Investigative ophthalmology & visual science·2026
Same author

Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

NPJ genomic medicine·2026
Same author

<i>CACNB3</i> defects are associated with infantile idiopathic nystagmus.

Brain communications·2026
Same author

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.

Investigative ophthalmology & visual science·2026
Same author

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Nature genetics·2026

Related Experiment Video

Updated: Feb 10, 2026

An Efficient Strategy for Generating Tissue-specific Binary Transcription Systems in Drosophila by Genome Editing
10:01

An Efficient Strategy for Generating Tissue-specific Binary Transcription Systems in Drosophila by Genome Editing

Published on: September 19, 2018

9.5K

Mutation- and tissue-specific alterations of RPGR transcripts.

Fabian Schmid1, Esther Glaus, Frans P M Cremers

  • 1Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

Investigative Ophthalmology & Visual Science
|October 17, 2009
PubMed
Summary

Mutations in the RPGR gene, common in X-linked retinitis pigmentosa (XLRP), can cause additional splicing defects. Analyzing RPGR transcripts is crucial for understanding disease phenotypes and developing treatments.

More Related Videos

A Combined 3D Tissue Engineered In Vitro/In Silico Lung Tumor Model for Predicting Drug Effectiveness in Specific Mutational Backgrounds
13:34

A Combined 3D Tissue Engineered In Vitro/In Silico Lung Tumor Model for Predicting Drug Effectiveness in Specific Mutational Backgrounds

Published on: April 6, 2016

10.6K
Aip1p Dynamics Are Altered by the R256H Mutation in Actin
08:57

Aip1p Dynamics Are Altered by the R256H Mutation in Actin

Published on: July 30, 2014

8.4K

Related Experiment Videos

Last Updated: Feb 10, 2026

An Efficient Strategy for Generating Tissue-specific Binary Transcription Systems in Drosophila by Genome Editing
10:01

An Efficient Strategy for Generating Tissue-specific Binary Transcription Systems in Drosophila by Genome Editing

Published on: September 19, 2018

9.5K
A Combined 3D Tissue Engineered In Vitro/In Silico Lung Tumor Model for Predicting Drug Effectiveness in Specific Mutational Backgrounds
13:34

A Combined 3D Tissue Engineered In Vitro/In Silico Lung Tumor Model for Predicting Drug Effectiveness in Specific Mutational Backgrounds

Published on: April 6, 2016

10.6K
Aip1p Dynamics Are Altered by the R256H Mutation in Actin
08:57

Aip1p Dynamics Are Altered by the R256H Mutation in Actin

Published on: July 30, 2014

8.4K

Area of Science:

  • Genetics
  • Molecular Biology
  • Ophthalmology

Background:

  • X-linked retinitis pigmentosa (XLRP) is a leading cause of inherited blindness.
  • Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are responsible for the majority of XLRP cases.

Purpose of the Study:

  • To investigate whether patients with RPGR mutations exhibit additional splicing defects.
  • To determine the impact of these splicing alterations on RPGR gene function and expression.

Main Methods:

  • Analysis of RPGR splicing in patient-derived cell lines using RT-PCR and sequencing.
  • Quantification of RPGR splice variant expression across various human tissues via real-time PCR.

Main Results:

  • Identified splice defects in three out of seven RPGR-mutated cell lines, suggesting interference with normal RPGR properties.
  • Discovered four novel RPGR transcripts and characterized differential regulation of RPGR isoforms in human tissues.
  • Observed alternative splicing of RPGR transcripts in the human retina.

Conclusions:

  • RPGR splicing is precisely regulated in a tissue-specific manner.
  • RPGR mutations frequently disrupt the expression of alternative transcript isoforms.
  • Analysis of RPGR transcripts is important for understanding XLRP phenotypes and disease modifiers.