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

Histone Modification02:32

Histone Modification

13.0K
The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone...
13.0K
Inheritance of Chromatin Structures03:17

Inheritance of Chromatin Structures

6.2K
Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
6.2K
Spreading of Chromatin Modifications02:25

Spreading of Chromatin Modifications

8.2K
The histone proteins in the nucleosomes are post-translationally modified (PTM) to increase or decrease access to DNA. The commonly observed PTMs are methylation, acetylation, phosphorylation, and ubiquitination of lysine amino acids in the histone H3 tail region. These histone modifications have specific meaning for the cell. Hence, they are called "histone code". The protein complex involved in histone modification is termed as "reader-writer" complex.
Writers
The writer...
8.2K
Genetic Lingo01:11

Genetic Lingo

100.0K
Overview
100.0K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.0K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.0K
Histone Variants at the Centromere02:30

Histone Variants at the Centromere

4.3K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
4.3K

You might also read

Related Articles

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

Sort by
Same author

Spheroid screening: A simplified model driving targeted drug discovery and clinical advances.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie·2026
Same author

Downregulation of Cyclin Kinase Inhibitors p16INK4a and p27 in Conjunctival Melanomas.

Investigative ophthalmology & visual science·2026
Same author

Precision gene therapy: Tailoring rAAV-mediated gene therapies for inherited retinal dystrophies (IRDs).

Molecular aspects of medicine·2025
Same author

Analysis of xyloglucan metabolism mutants highlights the prominent role of xylose cleavage in seed dormancy.

The Plant journal : for cell and molecular biology·2025
Same author

Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors.

Cells·2025
Same author

Glutamylation imbalance impairs the molecular architecture of the photoreceptor cilium.

The EMBO journal·2024

Related Experiment Video

Updated: May 28, 2025

Author Spotlight: Unraveling the Pathogenesis of Age-Related Macular Degeneration and Discovering Potential Therapies
06:16

Author Spotlight: Unraveling the Pathogenesis of Age-Related Macular Degeneration and Discovering Potential Therapies

Published on: July 28, 2023

2.4K

Exploring Histone Modifications in Inherited Retinal Disorders.

Luigi Mazzeo1, Yvan Arsenijevic2, Adeline Berger3

  • 1Department of Ophthalmology, Unit of Epigenetics of ocular diseases, University of Lausanne, Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland.

Advances in Experimental Medicine and Biology
|February 10, 2025
PubMed
Summary

Inherited retinal disorders (IRD) are progressive photoreceptor diseases with no current treatments. Epigenetic modulation, specifically targeting histone modifications, offers a promising gene-agnostic therapeutic strategy for IRD.

Keywords:
ConesEpigeneticHistone acetylationHistone methylationHistone post-translational modificationsInherited retinal disorders (IRD)PhotoreceptorRetinal degenerationRetinitis pigmentosaRods

More Related Videos

A Rhodopsin Transport Assay by High-Content Imaging Analysis
12:11

A Rhodopsin Transport Assay by High-Content Imaging Analysis

Published on: January 16, 2019

6.5K
Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells
10:02

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Published on: December 12, 2014

12.1K

Related Experiment Videos

Last Updated: May 28, 2025

Author Spotlight: Unraveling the Pathogenesis of Age-Related Macular Degeneration and Discovering Potential Therapies
06:16

Author Spotlight: Unraveling the Pathogenesis of Age-Related Macular Degeneration and Discovering Potential Therapies

Published on: July 28, 2023

2.4K
A Rhodopsin Transport Assay by High-Content Imaging Analysis
12:11

A Rhodopsin Transport Assay by High-Content Imaging Analysis

Published on: January 16, 2019

6.5K
Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells
10:02

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Published on: December 12, 2014

12.1K

Area of Science:

  • Ophthalmology
  • Genetics
  • Epigenetics

Background:

  • Inherited retinal disorders (IRD) cause progressive photoreceptor cell death and lack effective treatments.
  • Despite genetic diversity, common cellular pathways regulated by epigenetic modifications are implicated in IRD.
  • Epigenetic modifications are reversible, driving interest in gene-agnostic therapeutic approaches for IRD.

Purpose of the Study:

  • To review the role of epigenetic mechanisms, particularly histone modifications, in the context of inherited retinal disorders.
  • To explore the potential of epigenetic modulation as a gene-agnostic therapeutic strategy for IRD.
  • To assess the efficiency of histone mark modifiers in preclinical models for treating photoreceptor degeneration.

Main Methods:

  • Focus on post-translational modifications of histones as key regulators of gene expression.
  • Review of mechanistic studies on histone mark modifiers.
  • Assessment of therapeutic efficiency in IRD animal models.

Main Results:

  • Histone modifications play a crucial role in regulating gene expression and chromatin compaction in retinal cells.
  • Histone mark modifiers have demonstrated promising potential in preclinical studies.
  • Understanding these epigenetic mechanisms can shed light on photoreceptor degeneration.

Conclusions:

  • Epigenetic modulation, particularly targeting histone modifications, represents a viable gene-agnostic therapeutic avenue for inherited retinal disorders.
  • Further research into histone mark modifiers could lead to novel treatments for IRD.
  • This approach holds promise for understanding and treating photoreceptor cell death in humans.