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
Epistasis Analysis01:09

Epistasis Analysis

5.1K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.1K
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

7.3K
The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
7.3K
Mutations01:39

Mutations

84.0K
Overview
84.0K
Mutations in Microorganisms01:18

Mutations in Microorganisms

43
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
43
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

85
Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
85

You might also read

Related Articles

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

Sort by
Same author

Molecular evolution in light of regulatory-coding epistasis.

EMBO reports·2026
Same author

Predicting antifolate resistance in the unculturable fungal pathogen Pneumocystis jirovecii.

PLoS genetics·2026
Same author

A protein-fragment complementation assay to quantify synthetic protein scaffold efficiency.

Synthetic biology (Oxford, England)·2026
Same author

Mutational landscape and molecular bases of echinocandin resistance in Saccharomyces cerevisiae.

Genetics·2026
Same author

Evolutionary causes and consequences of gene duplication.

Nature reviews. Genetics·2026
Same author

A cost-effective and scalable barcoded library construction method for deep mutational scanning studies.

PLoS biology·2026

Related Experiment Video

Updated: Aug 11, 2025

Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions
10:16

Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions

Published on: June 28, 2018

32.6K

Epistasis between promoter activity and coding mutations shapes gene evolvability.

Angel F Cisneros1,2,3,4, Isabelle Gagnon-Arsenault1,2,3,4,5, Alexandre K Dubé1,2,3,4,5

  • 1Département de biochimie, de microbiologie et de bio-informatique, Faculté des sciences et de génie, Université Laval, G1V 0A6, Québec, Canada.

Science Advances
|February 3, 2023
PubMed
Summary
This summary is machine-generated.

Gene evolution involves changes in transcription and coding sequences. Optimal promoter activity can hide the effects of mutations, revealing that gene expression levels influence mutation impact.

More Related Videos

Author Spotlight: An Integrated Workflow to Study the Promoter-Centric Spatio-Temporal Genome Architecture in Scarce Cell Populations
11:36

Author Spotlight: An Integrated Workflow to Study the Promoter-Centric Spatio-Temporal Genome Architecture in Scarce Cell Populations

Published on: April 21, 2023

2.2K
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

20.8K

Related Experiment Videos

Last Updated: Aug 11, 2025

Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions
10:16

Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions

Published on: June 28, 2018

32.6K
Author Spotlight: An Integrated Workflow to Study the Promoter-Centric Spatio-Temporal Genome Architecture in Scarce Cell Populations
11:36

Author Spotlight: An Integrated Workflow to Study the Promoter-Centric Spatio-Temporal Genome Architecture in Scarce Cell Populations

Published on: April 21, 2023

2.2K
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

20.8K

Area of Science:

  • Molecular Biology
  • Evolutionary Genetics
  • Biochemistry

Background:

  • Protein-coding gene evolution is driven by mutations affecting transcription and coding sequences.
  • The interplay between transcriptional regulation and coding sequence evolution is poorly understood.
  • Previous studies have largely investigated these evolutionary dimensions independently.

Purpose of the Study:

  • To investigate the impact of promoter activity on the fitness effects of coding mutations.
  • To determine how gene expression levels influence the beneficial or deleterious nature of mutations.
  • To elucidate the relationship between protein properties and mutation effects across varying expression levels.

Main Methods:

  • Assessed fitness effects of all possible mutations in a protein complex.
  • Utilized varying levels of promoter activity to modulate gene expression.
  • Quantified the impact of mutations under different transcriptional conditions.

Main Results:

  • Optimal promoter activity masked the fitness consequences of many coding mutations, both beneficial and deleterious.
  • Deleterious mutations, masked at optimal activity, were linked to slight destabilization of protein subunits and interfaces.
  • Mutations increasing protein abundance were beneficial at low expression but potentially costly at high expression.

Conclusions:

  • Promoter activity significantly modulates the fitness landscape of coding mutations.
  • Protein properties and expression levels interact to determine mutation effects.
  • Understanding this interplay is crucial for comprehending gene evolution and adaptation.