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

Lethal Alleles02:41

Lethal Alleles

15.7K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.7K
Epistasis01:39

Epistasis

47.7K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
47.7K
Mouse Models of Cancer Study02:43

Mouse Models of Cancer Study

5.7K
Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
5.7K
In-vitro Mutagenesis01:16

In-vitro Mutagenesis

14.2K
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
14.2K

You might also read

Related Articles

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

Sort by
Same author

Early Pulmonary Fibrosis is Defined by Niche- and Cell-Specific Molecular Programs.

bioRxiv : the preprint server for biology·2026
Same author

Functions of Uninflatable in the Drosophila melanogaster wing and notum.

PloS one·2026
Same author

Overcoming host restrictions to enable continuous passaging of GII.3 human norovirus in human intestinal enteroids.

Science advances·2026
Same author

Single-cell atlas of human lung aging identifies cell type dyssynchrony and increased transcriptional entropy.

Nature communications·2026
Same author

Defective DNA Damage Response Is a Targetable Therapeutic Vulnerability in ESR1-Mutant Breast Cancer.

Cancer research·2026
Same author

Cross-tissue molecular responses in the liver and blood after toxicant exposures.

Research square·2025

Related Experiment Video

Updated: Sep 14, 2025

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
08:27

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome

Published on: May 22, 2019

6.5K

Mouse metastable epialleles are extremely rare.

Chathura J Gunasekara1, Uditha Maduranga1, Taylor Zhang1

  • 1USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, United States.

Nucleic Acids Research
|July 22, 2025
PubMed
Summary

Metastable epialleles (MEs) are rare genomic loci with stochastic epigenetic marks in mice. This study identified only 29 MEs genome-wide, suggesting limited impact on phenotypic variation in isogenic individuals.

More Related Videos

A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer
06:01

A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer

Published on: July 6, 2017

9.6K
Author Spotlight: A Pipeline to Analyze Lineage-Specific Mutant Embryos at Single-Cell Resolution
09:14

Author Spotlight: A Pipeline to Analyze Lineage-Specific Mutant Embryos at Single-Cell Resolution

Published on: June 14, 2024

1.1K

Related Experiment Videos

Last Updated: Sep 14, 2025

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
08:27

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome

Published on: May 22, 2019

6.5K
A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer
06:01

A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer

Published on: July 6, 2017

9.6K
Author Spotlight: A Pipeline to Analyze Lineage-Specific Mutant Embryos at Single-Cell Resolution
09:14

Author Spotlight: A Pipeline to Analyze Lineage-Specific Mutant Embryos at Single-Cell Resolution

Published on: June 14, 2024

1.1K

Area of Science:

  • Epigenetics
  • Genomics
  • Developmental Biology

Background:

  • Metastable epialleles (MEs) are genomic regions with epigenetically marked loci established during early development.
  • These marks are stably maintained, leading to epigenetic and phenotypic variation in genetically identical individuals.
  • The genome-wide prevalence and characteristics of MEs in mice remain largely uncharacterized.

Purpose of the Study:

  • To conduct the first unbiased genome-wide screen for metastable epialleles (MEs) in mice.
  • To characterize the genomic location, frequency, and potential regulatory factors of MEs.
  • To investigate the influence of maternal diet and sex on ME methylation patterns.

Main Methods:

  • Deep whole-genome bisulfite sequencing across multiple tissues from isogenic C57BL/6J mice.
  • Identification and precise localization of MEs across the mouse genome.
  • Analysis of ME association with transposable elements and sex-specific methylation patterns.

Main Results:

  • Identified only 29 metastable epialleles (MEs) genome-wide, highlighting their rarity.
  • Found no effect of maternal methyl donor supplementation on ME methylation, challenging previous notions of plasticity.
  • Most MEs are associated with the 5' end of intracisternal A-particle (IAP) elements.
  • Discovered sex-associated DNA methylation variation in autosomal regions preceding sexual differentiation.
  • Linked ME methylation to the expression of transcription factors like CTCF and KRAB zinc finger proteins.

Conclusions:

  • Metastable epialleles (MEs) are rare in the mouse genome and unlikely to be a major driver of phenotypic variation among isogenic mice.
  • Maternal diet does not appear to influence ME methylation, contrary to some prior suggestions.
  • Transcription factor activity during early development is crucial for establishing and maintaining DNA methylation at MEs, particularly those associated with transposable elements.