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

Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mismatch Repair01:36

Mismatch Repair

Overview
Mutations in Microorganisms01:18

Mutations in Microorganisms

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,...
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

You might also read

Related Articles

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

Sort by
Same author

Tissue-specific differences of gene expression variance in mutation accumulation lines of mice.

Heredity·2025
Same author

The rate and spectrum of new mutations in mice inferred by long-read sequencing.

Genome research·2024
Same author

An estimate of fitness reduction from mutation accumulation in a mammal allows assessment of the consequences of relaxed selection.

PLoS biology·2024
Same author

Variation in the Spectrum of New Mutations among Inbred Strains of Mice.

Molecular biology and evolution·2024
Same author

Variation in mutation, recombination, and transposition rates in <i>Drosophila melanogaster</i> and <i>Drosophila simulans</i>.

Genome research·2023
Same author

Rates and spectra of de novo structural mutations in <i>Chlamydomonas reinhardtii</i>.

Genome research·2023
Same journal

Genomic insights into marine-freshwater transition: evolutionary adaptations in freshwater Pusa seals.

Genetica·2026
Same journal

Morphological and COI-based identification of species of the Hawkmoth genus Theretra Hübner, 1819 (Lepidoptera: Sphingidae) from Himachal Pradesh, India.

Genetica·2026
Same journal

Advancing genetics and evolution: new Editors-in-Chief in Genetica.

Genetica·2026
Same journal

Origin and diversification of Altai osmans (Oreoleuciscus), Far Eastern phoxinin minnows (Rhynchocypris) and Far Eastern redfins (Tribolodon) of the Leuciscidae family (Actinopterygii): an example of evolutionary tempo variation?

Genetica·2026
Same journal

Chloroplast genome comparison, phylogeny, and molecular evolution of five endemic Potentilla (Rosaceae) species in Mongolia.

Genetica·2026
Same journal

Severe trauma and chronic stress: seeds and fruits of epigenetic sensitivity.

Genetica·2026
See all related articles

Related Experiment Video

Updated: Jul 3, 2026

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

Analysis and implications of mutational variation.

Peter D Keightley1, Daniel L Halligan

  • 1Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, West Mains Road, Edinburgh, EH9 3JT, UK. pk.genetica2008@gmail.com

Genetica
|July 30, 2008
PubMed
Summary
This summary is machine-generated.

New mutations drive genetic variation. Mutation accumulation experiments suggest most new variation comes from moderate to large effects, contrasting with DNA-level studies indicating small effects. This highlights a key debate in quantitative genetics.

More Related Videos

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Related Experiment Videos

Last Updated: Jul 3, 2026

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

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Area of Science:

  • Quantitative genetics
  • Evolutionary genetics
  • Population genetics

Background:

  • New mutations are a primary source of genetic variation relevant to quantitative genetics.
  • Understanding the genomic mutation rate and the distribution of mutation effects (DEM) is crucial for quantifying new variation per generation (V(M)).

Purpose of the Study:

  • To review methods and empirical results from mutation accumulation (MA) experiments regarding mutations affecting quantitative traits.
  • To compare findings from MA experiments with DNA-level mutagenesis and population genetics approaches.

Main Methods:

  • Review of mutation accumulation (MA) experiments assessing quantitative traits.
  • Analysis of DNA-level mutagenesis experiments.
  • Comparison with population genetic inferences of the DEM using frequency spectra of nucleotide polymorphisms.

Main Results:

  • MA experiments on fitness traits suggest a platykurtic DEM, with most variation from moderate to large effect mutations.
  • DNA-level studies imply a leptokurtic DEM, with most mutations having small effects.
  • Population genetic analyses for humans and Drosophila also indicate a leptokurtic DEM, but predicted V(M) is much lower than observed in MA experiments.

Conclusions:

  • A discrepancy exists between MA experiments and population genetic inferences regarding the DEM and V(M).
  • This discrepancy may be explained by a few large-effect deleterious mutations contributing significantly to MA-observed variation but segregating at very low frequencies in natural populations.