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

Proofreading01:31

Proofreading

9.8K
Synthesis of new DNA molecules is carried out by the enzyme DNA polymerase, which adds nucleotides on the daughter strand complementary to the template DNA strand. DNA polymerase has a higher affinity to add the correct base and ensures fidelity during DNA replication. Furthermore,  it exhibits proofreading activity during replication, using an exonuclease domain that cuts off incorrect nucleotides from the nascent DNA strand.
Errors During Replication are Corrected by the DNA Polymerase...
9.8K
Proofreading01:43

Proofreading

62.0K
Overview
62.0K
Translesion DNA Polymerases02:10

Translesion DNA Polymerases

11.6K
Translesion (TLS) polymerases rescue stalled DNA polymerases at sites of damaged bases by replacing the replicative polymerase and installing a nucleotide across the damaged site. Doing so, TLS allows additional time for the cell to repair the damage before resuming regular DNA replication.
TLS polymerases are found in all three domains of life - archaea, bacteria, and eukaryotes. Of the different classes of TLS polymerases, members of the Y family are fitted with specialized structures that...
11.6K
Mismatch Repair01:36

Mismatch Repair

44.9K
Overview
44.9K
Mismatch Repair01:20

Mismatch Repair

7.0K
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...
7.0K
RNA-seq03:21

RNA-seq

12.4K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
12.4K

You might also read

Related Articles

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

Sort by
Same author

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

Nature communications·2026
Same author

Report of the PGDIS Task Group on the status of PGT-A.

Reproductive biomedicine online·2026
Same author

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

medRxiv : the preprint server for health sciences·2026
Same author

Copy-Number Profiling and Methylation-Based Tumor Typing during Prenatal Cell-Free DNA Screening.

Clinical chemistry·2026
Same author

Immunophenotypic changes in the tumor and tumor microenvironment during progression to multiple myeloma.

PLoS genetics·2025
Same author

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

bioRxiv : the preprint server for biology·2025

Related Experiment Video

Updated: Mar 26, 2026

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis
11:08

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis

Published on: June 19, 2018

10.3K

Polymerase specific error rates and profiles identified by single molecule sequencing.

Matthew S Hestand1, Jeroen Van Houdt1, Francesca Cristofoli1

  • 1Department of Human Genetics, KU Leuven, O&N I Herestraat 49-box 602, 3000 Leuven, Belgium.

Mutation Research
|February 2, 2016
PubMed
Summary
This summary is machine-generated.

Single molecule sequencing accurately measured DNA polymerase error rates and mutation profiles. Different polymerases exhibited distinct error rates and direction-specific mutation patterns.

Keywords:
HeteroduplexPolymerase fidelitySingle molecule sequencing

More Related Videos

DNA Polymerase Activity Assay Using Near-infrared Fluorescent Labeled DNA Visualized by Acrylamide Gel Electrophoresis
07:38

DNA Polymerase Activity Assay Using Near-infrared Fluorescent Labeled DNA Visualized by Acrylamide Gel Electrophoresis

Published on: October 6, 2017

14.7K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K

Related Experiment Videos

Last Updated: Mar 26, 2026

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis
11:08

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis

Published on: June 19, 2018

10.3K
DNA Polymerase Activity Assay Using Near-infrared Fluorescent Labeled DNA Visualized by Acrylamide Gel Electrophoresis
07:38

DNA Polymerase Activity Assay Using Near-infrared Fluorescent Labeled DNA Visualized by Acrylamide Gel Electrophoresis

Published on: October 6, 2017

14.7K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • DNA polymerases are crucial enzymes for DNA replication and repair.
  • These enzymes possess an inherent error rate that varies based on the specific polymerase and its surrounding DNA sequence.
  • Previous methods for measuring mutation rates and profiles had technical limitations.

Purpose of the Study:

  • To evaluate the mutational rate and profiles of six different DNA polymerases.
  • To leverage single molecule sequencing for high-resolution analysis of DNA polymerase fidelity.
  • To investigate direction-specific mutations (transitions and transversions) captured by this technology.

Main Methods:

  • Utilized single molecule sequencing to analyze DNA polymerase errors at the sequence level.
  • Applied heteroduplex analysis to determine direction-specific mutations.
  • Compared mutation rates and profiles across six distinct DNA polymerases.

Main Results:

  • Significant variations in error rates were observed among the six DNA polymerases.
  • Single molecule sequencing accurately identified mutations in double-stranded DNA.
  • Direction-specific transitions and transversions differed notably between polymerases.
  • Heteroduplex analysis enabled the capture of strand-specific mutational events.

Conclusions:

  • Single molecule sequencing offers a powerful and accurate method for assessing DNA polymerase fidelity.
  • DNA polymerase error rates and mutation signatures are enzyme-specific.
  • Understanding these variations is critical for fields ranging from cancer research to synthetic biology.