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

What is Gene Expression?01:36

What is Gene Expression?

A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then processed and...
What is Gene Expression?01:42

What is Gene Expression?

Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
What is Gene Expression?01:42

What is Gene Expression?

Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
Regulation of Expression at Multiple Steps01:23

Regulation of Expression at Multiple Steps

The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the addition of a...
Regulation of Expression Occurs at Multiple Steps02:24

Regulation of Expression Occurs at Multiple Steps

Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...
Regulation of Expression Occurs at Multiple Steps02:24

Regulation of Expression Occurs at Multiple Steps

Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...

You might also read

Related Articles

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

Sort by
Same author

Single nucleotide variants in <i>UNC13C</i> associated with neurodevelopmental disorders affect ethanol sensitivity in <i>Drosophila</i>.

Biochemistry and biophysics reports·2025
Same author

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Cell·2025
Same author

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

Genome medicine·2025
Same author

Further delineation of the SCAF4-associated neurodevelopmental disorder.

European journal of human genetics : EJHG·2024
Same author

Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.

American journal of human genetics·2024
Same author

The pleiotropic spectrum of proximal 16p11.2 CNVs.

American journal of human genetics·2024
Same journal

Isolation of Mesenchymal Stem Cell-Derived Extracellular Vesicles.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Modeling Melanoma Immune Surveillance by CAR-T Cells in Human Skin Organoids.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Stepwise Optimization of a Matrigel-Based In Vitro Angiogenesis Assay for Reproducible and Quantifiable 2D-Tube Formation Using HUVECs.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Quantifying Mechanical Properties of Fresh Ovarian Tissue with Optical Brillouin Microscopy.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

3D Chromatin Architecture During Early Development: New Methods and New Findings.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Metabolic Plasticity in Embryogenesis Throughout the Lens of NAD<sup></sup>.

Methods in molecular biology (Clifton, N.J.)·2026
See all related articles

Related Experiment Video

Updated: May 26, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

Structural variation and its effect on expression.

Louise Harewood1, Evelyne Chaignat, Alexandre Reymond

  • 1The Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.

Methods in Molecular Biology (Clifton, N.J.)
|January 10, 2012
PubMed
Summary
This summary is machine-generated.

Structural variations, including copy number and balanced rearrangements, significantly impact gene expression by altering gene dosage and disrupting regulatory links. These variations can also cause genome-wide expression changes by affecting chromosome positioning within the nucleus.

More Related Videos

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Related Experiment Videos

Last Updated: May 26, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Area of Science:

  • Genomics
  • Molecular Biology
  • Gene Expression Analysis

Background:

  • Structural variations (SVs) encompass copy number variants (CNVs), reciprocal translocations, and inversions.
  • SVs can profoundly affect gene expression by altering gene dosage or disrupting regulatory element-gene interactions.
  • Large-scale SVs can influence genome-wide expression by changing nuclear chromosome organization and cis/trans interactions.

Purpose of the Study:

  • To detail the mechanisms by which structural variations impact gene expression.
  • To highlight the significance of structural variation in the study of gene expression.

Main Methods:

  • Review of existing literature on structural variation and gene expression.
  • Analysis of different types of structural variations (CNVs, translocations, inversions).
  • Discussion of mechanisms including dosage effects and disruption of regulatory links.

Main Results:

  • Structural variations directly alter gene copy number, leading to dosage effects.
  • Physical disruption of regulatory elements and gene linkages by SVs perturbs expression.
  • Altered nuclear positioning of chromosomes due to SVs can lead to genome-wide expression changes.

Conclusions:

  • Structural variation is a critical factor influencing gene expression patterns.
  • Understanding SVs is essential for comprehensive gene expression studies.
  • SVs contribute to both local and global changes in gene activity.