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

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...
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...
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...
Covalently Linked Protein Regulators02:04

Covalently Linked Protein Regulators

Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
These groups modify specific amino acids in a protein.

You might also read

Related Articles

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

Sort by
Same author

Large-scale analysis of temporal gene expression variation in peripheral blood.

Nature communications·2026
Same author

Deciphering the genetic underlying causes of sex differences in multiple myeloma incidence and mortality.

HGG advances·2026
Same author

Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.

Genome research·2026
Same author

The E3-ome gene-centric compendium reveals the human E3 ligase landscape.

Cell·2026
Same author

Rapid Remodeling of the Human Gut Microbiome in Response to Short-Term Animal Product Restriction and Associations with Host Molecular Phenotypes.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026
Same author

A comprehensive evaluation of long-read de novo transcriptome assembly.

Genome biology·2026
Same journal

Genetic survey of biomarkers at early and mid-pregnancy identifies pregnancy-specialized immune regulation.

PLoS genetics·2026
Same journal

Argonaute proteins orchestrate Meiotic Sex Chromosome Inactivation and timing of the spermatogenic transcriptional program.

PLoS genetics·2026
Same journal

Genome wide association study meta-analysis of neuropathologic lesions of Alzheimer's disease and related dementias in a multi-site autopsy cohort.

PLoS genetics·2026
Same journal

Microtubule stiffening by the doublecortin-domain protein ZYG-8 contributes to mitotic spindle orientation during zygote division in Caenorhabditis elegans.

PLoS genetics·2026
Same journal

Multiple instance fine-mapping: Predicting causal regulatory variants with a deep sequence model.

PLoS genetics·2026
Same journal

Nuclear ubiquitin-conjugating enzyme TrUbc4 and F-box protein TrFwd1-mediated modification of Cre1 in Trichoderma reesei establishes a regulatory mechanism for carbon catabolite repression.

PLoS genetics·2026
See all related articles

Related Experiment Video

Updated: Jun 28, 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

Modifier effects between regulatory and protein-coding variation.

Antigone S Dimas1, Barbara E Stranger, Claude Beazley

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.

Plos Genetics
|November 1, 2008
PubMed
Summary
This summary is machine-generated.

Investigating genetic interactions reveals that regulatory variants can alter the function of protein-coding variants, impacting gene expression. This interaction between regulatory and protein-coding single nucleotide polymorphisms (SNPs) offers new insights into complex traits and diseases.

More Related Videos

Quantitative Comparison of cis-Regulatory Element (CRE) Activities in Transgenic Drosophila melanogaster
08:19

Quantitative Comparison of cis-Regulatory Element (CRE) Activities in Transgenic Drosophila melanogaster

Published on: December 19, 2011

Related Experiment Videos

Last Updated: Jun 28, 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

Quantitative Comparison of cis-Regulatory Element (CRE) Activities in Transgenic Drosophila melanogaster
08:19

Quantitative Comparison of cis-Regulatory Element (CRE) Activities in Transgenic Drosophila melanogaster

Published on: December 19, 2011

Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Genome-wide association studies (GWAS) identify single genetic variants but leave many complex trait effects unexplained.
  • Genetic interactions, or epistasis, are crucial for a comprehensive understanding of genetic architecture.
  • Interactions between regulatory and protein-coding variants represent a significant, understudied area.

Purpose of the Study:

  • To investigate the prevalence and functional consequences of epistasis between regulatory and protein-coding single nucleotide polymorphisms (SNPs).
  • To explore how these interactions influence gene expression and downstream targets.
  • To propose a framework for integrating these variant types to better understand complex traits and diseases.

Main Methods:

  • Utilized genotype and gene expression data from 210 individuals across four HapMap populations.
  • Analyzed the combined effects of regulatory SNPs and non-synonymous coding SNPs (nsSNPs).
  • Predicted differential expression of nsSNPs and assessed the impact of regulatory variants on coding variant function in cis.

Main Results:

  • Predicted that approximately 18% (1,502/8,233) of nsSNPs exhibit differential expression.
  • Demonstrated that regulatory variants can modify the functional impact of a coding variant in cis.
  • Showed that cis interactions between regulatory and coding variants can influence the expression of downstream genes (trans effect).

Conclusions:

  • Joint analysis of regulatory and protein-coding variants is essential for uncovering additional genetic effects in complex traits and diseases.
  • These interactions may explain differential penetrance observed for known disease variants.
  • Understanding epistasis between variant types provides a more complete picture of human genetic variation and its functional consequences.