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

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,...
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

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).
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...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

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...
In vitro Mutagenesis01:16

In vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

You might also read

Related Articles

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

Sort by
Same author

Segmental duplications and supernumerary chromosomes drive antifungal drug resistance in Candida auris.

Nature communications·2026
Same author

Mms4 chromosomal association reveals functional relationships between meiotic crossover pathways in budding yeast.

PLoS genetics·2026
Same author

Loss of Heterozygosity associated with ubiquitous environments in yeast.

PLoS genetics·2025
Same author

The ATPase activity of yeast chromosome axis protein Hop1 affects the frequency of meiotic crossovers.

Nucleic acids research·2024
Same author

Crossover recombination between homologous chromosomes in meiosis: recent progress and remaining mysteries.

Trends in genetics : TIG·2024
Same author

Pathogen infection alters the gene expression landscape of transposable elements in Drosophila melanogaster.

G3 (Bethesda, Md.)·2024

Related Experiment Video

Updated: Jun 21, 2026

Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis
09:04

Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis

Published on: July 26, 2018

Genomic mutation rates: what high-throughput methods can tell us.

Koodali T Nishant1, Nadia D Singh, Eric Alani

  • 1Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853-2703, USA.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology
|August 1, 2009
PubMed
Summary

High-throughput DNA sequencing reveals higher mutation rates than older methods. Understanding sequence context and genome position is key to identifying factors influencing mutation rates and their impact on disease.

More Related Videos

Measuring Microbial Mutation Rates with the Fluctuation Assay
07:44

Measuring Microbial Mutation Rates with the Fluctuation Assay

Published on: November 28, 2019

Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency
14:45

Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency

Published on: August 6, 2014

Related Experiment Videos

Last Updated: Jun 21, 2026

Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis
09:04

Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis

Published on: July 26, 2018

Measuring Microbial Mutation Rates with the Fluctuation Assay
07:44

Measuring Microbial Mutation Rates with the Fluctuation Assay

Published on: November 28, 2019

Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency
14:45

Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency

Published on: August 6, 2014

Area of Science:

  • Genomics
  • Molecular Biology
  • Genetics

Background:

  • High-throughput DNA sequencing is revolutionizing the detection of rare mutations.
  • Pre-genomic strategies underestimated genome-wide mutation rates.
  • Emerging research highlights the influence of sequence context and genomic location on mutation frequency.

Purpose of the Study:

  • To explore the implications of high-throughput DNA analyses for mutation rate determination.
  • To investigate the impact of sequence context and genome position on mutation rates.
  • To elucidate how mutation rate variations affect genome organization and disease progression.

Main Methods:

  • Utilizing high-throughput DNA sequencing technologies.
  • Analyzing mutation rates across diverse organisms.
  • Correlating mutation frequency with specific sequence contexts and genomic positions.

Main Results:

  • High-throughput methods detect significantly higher genome mutation rates compared to previous techniques.
  • Mutation rate is demonstrably influenced by adjacent DNA sequences and chromosomal location.
  • Identified patterns suggest underlying genetic and epigenetic regulatory mechanisms.

Conclusions:

  • High-throughput DNA analysis provides a more accurate assessment of genome mutation rates.
  • Sequence context and genome position are critical determinants of mutation variability.
  • Further research can leverage these findings to understand mutation's role in genome stability and disease.