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

Overview
Mutations01:35

Mutations

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...
Mutations01:39

Mutations

Overview
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
Epigenetic Regulation01:37

Epigenetic Regulation

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...
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.

You might also read

Related Articles

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

Sort by
Same author

Genome-wide analysis implicates inner ear development in Ménière disease.

American journal of human genetics·2026
Same author

Genome-wide analysis implicates inner ear development in Ménière's disease.

medRxiv : the preprint server for health sciences·2026
Same author

Limited Utility of Existing Hearing Loss Panels in the Assessment of Early-Onset, Bilateral Meniere's Disease.

OTO open·2025
Same author

Multiple allelic configurations govern long-range Shh enhancer-promoter communication in the embryonic forebrain.

Molecular cell·2024
Same author

Impaired pain in mice lacking first-order posterior medial thalamic neurons.

Pain·2024
Same author

Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.

PLoS genetics·2023

Related Experiment Video

Updated: Jun 21, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Cis-regulatory mutations in human disease.

Douglas J Epstein1

  • 1Department of Genetics, University of Pennsylvania School of Medicine, Clinical Research Bldg, Room 470, 415 Curie Blvd, Philadelphia, PA 19104, USA. epsteind@mail.med.upenn.edu

Briefings in Functional Genomics & Proteomics
|July 31, 2009
PubMed
Summary

Mutations in cis-regulatory sequences significantly impact gene expression and human disease risk. Integrating genetic and genomic data reveals how these non-coding variants contribute to conditions like diabetes and cancer.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: Jun 21, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Gene expression is precisely controlled by cis-acting regulatory sequences.
  • Heritable variations in gene expression are key determinants of human disease susceptibility.
  • An increasing number of genetic diseases are linked to mutations in non-coding regulatory DNA.

Purpose of the Study:

  • To review how integrated genetic and genomic approaches uncover the molecular basis of cis-regulatory mutations in human diseases.
  • To highlight advances in associating genetic variation with disease and predicting cis-regulatory potential.
  • To provide a framework for investigating non-coding variants identified in genome-wide association studies.

Main Methods:

  • Literature review of studies integrating genetic and genomic data.
  • Analysis of fine-mapping data for disease-causing variants.
  • Examination of regulatory landscape knowledge for enhancer selection.

Main Results:

  • Novel cis-acting regulatory elements have been discovered, sometimes located millions of base pairs from their target genes.
  • Prior knowledge of gene regulatory landscapes aids in identifying disease-associated enhancers.
  • Successful studies demonstrate the link between cis-regulatory mutations, altered gene expression, and human disease.

Conclusions:

  • Integrated genetic and genomic approaches are powerful for understanding the role of cis-regulatory mutations in disease.
  • These methods facilitate the investigation of non-coding variants linked to common human diseases.
  • The findings offer a roadmap for future research on the genetic basis of complex diseases.