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

Epigenetic Regulation01:37

Epigenetic Regulation

3.1K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
3.1K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

34.7K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.7K
General Transcription Factors01:30

General Transcription Factors

5.4K
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...
5.4K
Inheritance of Chromatin Structures03:17

Inheritance of Chromatin Structures

6.3K
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...
6.3K
Transcription Factors02:16

Transcription Factors

76.1K
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...
76.1K

You might also read

Related Articles

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

Sort by
Same author

Preconception dietary patterns in association with live birth and pregnancy loss: a couples-based approach.

Fertility and sterility·2026
Same author

Joint associations between gestational environmental chemical mixtures and child behavioral outcomes.

Environment international·2026
Same author

Nasogastric Hydration Utilization in Bronchiolitis, an EMO Trial Observational Substudy.

Hospital pediatrics·2026
Same author

Influence of Gestational Age Measurement Technique on the Associations Between Maternal Characteristics and Birth Outcomes.

Paediatric and perinatal epidemiology·2026
Same author

Weight Change Between Pregnancies and Mortality Over 50 Years of Follow-Up.

Obesity (Silver Spring, Md.)·2026
Same author

Emulating a target trial of surgical removal of uterine fibroids on atherosclerotic cardiovascular disease.

Fertility and sterility·2026

Related Experiment Video

Updated: Jul 20, 2025

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution
13:47

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution

Published on: February 24, 2015

25.6K

Tissue-specific DNA methylation variability and its potential clinical value.

Ryan H Miller1, Chad A Pollard2, Kristin R Brogaard1

  • 1Inherent Biosciences, Salt Lake City, UT, United States.

Frontiers in Genetics
|August 4, 2023
PubMed
Summary
This summary is machine-generated.

This study introduces a novel diagnostic tool analyzing epigenetic variability for complex diseases. It identifies altered epigenetic patterns in diseased tissues and shows promise in predicting male infertility outcomes, particularly with intrauterine insemination (IUI).

Keywords:
DNA methylationgene promoter dysregulationgene promoter methylationmale infertilitysperm DNA

More Related Videos

Methyl-binding DNA capture Sequencing for Patient Tissues
08:40

Methyl-binding DNA capture Sequencing for Patient Tissues

Published on: October 31, 2016

8.7K
Immunostaining for DNA Modifications: Computational Analysis of Confocal Images
09:42

Immunostaining for DNA Modifications: Computational Analysis of Confocal Images

Published on: September 7, 2017

9.8K

Related Experiment Videos

Last Updated: Jul 20, 2025

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution
13:47

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution

Published on: February 24, 2015

25.6K
Methyl-binding DNA capture Sequencing for Patient Tissues
08:40

Methyl-binding DNA capture Sequencing for Patient Tissues

Published on: October 31, 2016

8.7K
Immunostaining for DNA Modifications: Computational Analysis of Confocal Images
09:42

Immunostaining for DNA Modifications: Computational Analysis of Confocal Images

Published on: September 7, 2017

9.8K

Area of Science:

  • Epigenetics and Genomics
  • Complex Disease Biomarkers
  • Systems Biology Approaches

Background:

  • Complex diseases present diagnostic challenges due to multifactorial etiologies.
  • Current diagnostic biomarkers often focus on limited genetic or epigenetic targets.
  • A systems-level approach analyzing biological pathways is needed for complex diseases.

Purpose of the Study:

  • To develop a diagnostic tool for analyzing comprehensive epigenetic profiles in complex diseases.
  • To measure intra-individual methylation variability within gene promoters to detect global regulatory shifts.
  • To assess tissue-specificity, disease-associated alterations, and clinical utility of epigenetic variability.

Main Methods:

  • Utilized publicly available DNA methylation data from over 2,400 samples across 20 cell types and various diseases.
  • Developed a tool to measure intra-individual methylation variability in gene promoters, not just differentially methylated regions.
  • Employed unsupervised clustering to analyze epigenetic variability patterns.

Main Results:

  • Global epigenetic variability in promoter regions is tissue-specific.
  • Diseased tissues exhibit altered epigenetic variability compared to normal tissues.
  • Epigenetic variability analysis successfully distinguished between diseased and normal tissues in multiple complex diseases.

Conclusions:

  • Epigenetic variability in gene promoters serves as a sensitive indicator of cellular regulatory state.
  • The developed tool demonstrates clinical utility in assessing multifactorial conditions like male infertility.
  • Sperm epigenetic variability correlates with live birth success in intrauterine insemination (IUI), offering potential reproductive insights.