Related Experiment Video
Updated: Jul 17, 2026
11:06
Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
Published on: February 24, 2014
Genome instability and DNA damage accumulation in gene-targeted mice
L M Nordstrand1, J Ringvoll, E Larsen
1Centre for Molecular Biology and Neuroscience and Institute of Medical Microbiology, Rikshospitalet-Radiumhospitalet HF, University of Oslo, N-0027 Oslo, Norway.
Neuroscience
|January 16, 2007
Summary
Gene-targeted mice reveal the significance of DNA repair pathways in maintaining genome stability. Studying these pathways helps understand spontaneous DNA damage, mutations, and cancer development.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Six major DNA repair pathways exist: direct reversal, base excision repair, mismatch repair, nucleotide excision repair, homologous recombination, and non-homologous end-joining.
- Cellular responses to DNA damage are influenced by various processes.
- Gene-targeted organisms are vital for evaluating DNA repair proteins and pathways in genome stability.
Purpose of the Study:
- To review progress in understanding spontaneous DNA damage and repair.
- To highlight the role of gene-targeted mice in this research.
- To exemplify findings from major DNA repair pathways using specific gene-targeted mouse models.
Main Methods:
- Review of scientific literature on DNA repair pathways.
- Analysis of studies utilizing gene-targeted mice.
- Case examples from each major DNA repair pathway.
Main Results:
- Gene-targeted mice models have been available for over 15 years, with more than 100 DNA repair genes targeted.
- Studies in gene-targeted animals reveal spontaneous DNA damage, mutation accumulation, and cancer.
- This approach illuminates the significance of specific genes and pathways in preventing genomic instability.
Conclusions:
- Gene-targeted mouse models are powerful tools for dissecting DNA repair mechanisms.
- Understanding spontaneous DNA damage is crucial for cancer research.
- Further research using these models will advance our knowledge of genome maintenance.
Related Concept Videos
01:16In-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.
02:36DNA Damage can Stall the Cell Cycle
In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
02:36DNA Damage Can Stall the Cell Cycle
In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
01:20Mismatch 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...
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...
01:36Mismatch Repair
Overview
01:38Nucleotide Excision Repair
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...