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 Repair01:36

Mismatch Repair

Overview
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...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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...
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...
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,...

You might also read

Related Articles

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

Sort by
Same author

Nucleotide diversity is a poor predictor of short-term adaptive potential.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

Why diabetes matters in dementia studies: Excluding diabetes status masks regional mitochondrial DNA copy number changes in human hippocampus, amygdala, and cerebellum in Alzheimer's disease.

bioRxiv : the preprint server for biology·2026
Same author

Population Genetic Study of <i>vitellogenin</i> in Honey Bees (<i>Apis mellifera</i>) With European Ancestry Identifies Two Ancestral Genetic Backgrounds.

Ecology and evolution·2026
Same author

Levels of additive genetic variation vary substantially between species.

PLoS biology·2026
Same author

Nuclear genetic modulation of tissue-specific mitochondrial RNA processing contributes to common disease risk.

Nature communications·2026
Same author

A Comparative Analysis of Long-Term Effective Population Sizes Across Eukaryotes.

Molecular ecology·2026

Related Experiment Video

Updated: May 12, 2026

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

Cryptic variation in the human mutation rate.

Alan Hodgkinson1, Emmanuel Ladoukakis, Adam Eyre-Walker

  • 1Centre for the Study of Evolution, School of Life Sciences, University of Sussex, Brighton, United Kingdom.

Plos Biology
|February 6, 2009
PubMed
Summary
This summary is machine-generated.

Human and chimpanzee genomes show an excess of shared single-nucleotide polymorphisms (SNPs), indicating hidden variation in mutation rates. This cryptic variation, independent of neighboring nucleotides, significantly impacts mutation patterns.

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

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 12, 2026

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

Measuring Microbial Mutation Rates with the Fluctuation Assay
07:44

Measuring Microbial Mutation Rates with the Fluctuation Assay

Published on: November 28, 2019

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
  • Evolutionary Biology
  • Molecular Biology

Background:

  • Mutation rates are known to vary across the human genome.
  • CpG dinucleotides are a well-studied context influencing mutation rates.
  • Previous research has focused on local nucleotide contexts for mutation rate variation.

Purpose of the Study:

  • To investigate cryptic variation in human genome mutation rates.
  • To determine if mutation rate variation exists beyond known nucleotide contexts.
  • To identify novel factors influencing mutation rate heterogeneity.

Main Methods:

  • Comparative analysis of human and chimpanzee genomes.
  • Statistical testing for an excess of coincident single-nucleotide polymorphisms (SNPs).
  • Analysis of nucleotide patterns surrounding sites with coincident SNPs.

Main Results:

  • A highly significant excess of sites with coincident SNPs between humans and chimpanzees was observed.
  • This excess could not be explained by neighboring nucleotide effects, ancestral polymorphism, or natural selection.
  • Extensive, nonrandom nucleotide patterns were found around coincident SNP sites, suggesting complex context effects.

Conclusions:

  • There is substantial cryptic variation in human mutation rates, previously unobserved.
  • This hidden variation is independent of adjacent nucleotides but involves complex, long-range context effects.
  • The level of this cryptic mutation rate variation is comparable to or greater than known context effects like CpG.