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

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

15.2K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
15.2K
Mismatch Repair01:20

Mismatch Repair

6.8K
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...
6.8K
Mismatch Repair01:36

Mismatch Repair

44.1K
Overview
44.1K
Mutations01:35

Mutations

44.9K
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...
44.9K
Mutations01:39

Mutations

95.1K
Overview
95.1K
Genetic Variation01:25

Genetic Variation

1.5K
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
1.5K

You might also read

Related Articles

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

Sort by
Same author

MD2NMR: Linking molecular dynamics with NMR relaxation.

Biophysical journal·2026
Same author

Integrating evidence from protein domains to identify cancer driver mutations.

Protein science : a publication of the Protein Society·2026
Same author

G34R cancer mutation alters the conformational ensemble and dynamics of the histone H3.3 tails.

Nucleic acids research·2026
Same author

Cancer histone mutations impact protein binding and DNA repair with possible links to genomic instability.

Nucleic acids research·2025
Same author

Regulation of RPE65 expression in human retinal pigment epithelium cells.

Scientific reports·2025
Same author

G34R cancer mutation alters the conformational ensemble and dynamics of the histone H3.3 tails.

bioRxiv : the preprint server for biology·2025

Related Experiment Video

Updated: Mar 3, 2026

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines
07:49

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

3.3K

Exploring background mutational processes to decipher cancer genetic heterogeneity.

Alexander Goncearenco1, Stephanie L Rager1,2, Minghui Li1

  • 1National Center for Biotechnology Information, NIH, Bethesda, MD 20894, USA.

Nucleic Acids Research
|May 5, 2017
PubMed
Summary

Understanding cancer mutation patterns is key. MutaGene analyzes DNA sequence context to reveal underlying mutagenic processes, aiding cancer diagnosis and treatment by identifying specific mutational drivers.

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

11.2K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.3K

Related Experiment Videos

Last Updated: Mar 3, 2026

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines
07:49

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

3.3K
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

11.2K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.3K

Area of Science:

  • Genomics
  • Cancer Biology
  • Computational Biology

Background:

  • Cancer progression involves complex, heterogeneous mutational processes.
  • Mutation rates are influenced by local DNA sequence context.
  • Understanding these patterns has diagnostic and clinical potential.

Purpose of the Study:

  • To develop computational tools for analyzing cancer context-dependent mutations.
  • To implement these tools in an online framework called MutaGene.
  • To explore somatic cancer mutagenesis and identify underlying mutagenic processes.

Main Methods:

  • Utilizing the MutaGene computational framework.
  • Analyzing DNA context-dependent mutational patterns.
  • Identifying combinations of mutagenic processes (replication, repair, endogenous/exogenous factors).
  • Applying mutational background models to assess mutability.
  • Decoupling mutagenesis and selection contributions.

Main Results:

  • MutaGene identifies underlying mutagenic processes in cancer samples.
  • It allows comparison with profiles from malignant and benign samples.
  • The framework calculates expected DNA and protein site mutability.
  • It helps distinguish between mutagenesis and selection in carcinogenesis.
  • Site-specific driving events in cancer are elucidated.

Conclusions:

  • MutaGene provides tools to analyze context-dependent mutations in cancer.
  • It aids in identifying complex mutagenic processes and their contributions.
  • The framework facilitates the elucidation of cancer drivers and has clinical implications.