Related Experiment Video
Updated: Jul 26, 2026

Analysis of DNA Double-strand Break (DSB) Repair in Mammalian Cells
Published on: September 8, 2010
Genomic integrity and the repair of double-strand DNA breaks
A Pastink1, J C Eeken, P H Lohman
1Sylvius Laboratory, Department of Radiation Genetics and Chemical Mutagenesis, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands. a.pastink@lumc.nl
Abstract:
The induction of double-strand breaks (DSBs) in DNA by exposure to DNA damaging agents or as intermediates in normal cellular processes, creates a severe threat for the integrity of the genome. Unrepaired or incorrectly repaired DSBs lead to broken chromosomes and/or gross chromosomal rearrangements which are frequently associated with tumor formation in mammals. To maintain the integrity of the genome and to prevent the formation of chromosomal aberrations, several pathways exist in eukaryotes: homologous recombination (HR), non-homologous end joining (NHEJ) and single-strand annealing (SSA). These mechanisms are conserved in evolution, but the relative contribution depends on the organism, cell type and stage of the cell cycle. In yeast, DSBs are primarily repaired via HR while in higher eukaryotes, both HR and NHEJ are important. In mammals, defects in both HR or NHEJ lead to a predisposition to cancer and at the cellular level, the frequency of chromosomal aberrations is increased. This review summarizes our current knowledge about DSB-repair with emphasis on recent progress in understanding the precise biochemical activities of individual proteins involved.
Insights
DNA double-strand breaks (DSBs) threaten genome integrity. This review details conserved repair pathways like homologous recombination (HR) and non-homologous end joining (NHEJ), crucial for preventing cancer.
Area of Science:
- Molecular Biology
- Genetics
- Cell Biology
Background:
- DNA double-strand breaks (DSBs) pose a significant threat to genome integrity.
- Unrepaired or misrepaired DSBs can lead to chromosomal aberrations and are linked to cancer development in mammals.
Purpose of the Study:
- To review current knowledge on DNA double-strand break repair mechanisms.
- To highlight recent advancements in understanding the biochemical functions of proteins involved in DSB repair.
Main Methods:
- Literature review of DNA repair pathways.
- Focus on homologous recombination (HR), non-homologous end joining (NHEJ), and single-strand annealing (SSA).
- Comparative analysis across different organisms and cell cycle stages.
Main Results:
- DSB repair mechanisms are conserved in eukaryotes but vary in relative importance.
- HR is primary in yeast, while both HR and NHEJ are critical in higher eukaryotes.
- Defects in HR or NHEJ in mammals increase cancer predisposition and chromosomal aberrations.
Conclusions:
- Multiple pathways, including HR and NHEJ, maintain genome integrity by repairing DSBs.
- Understanding the precise biochemical activities of repair proteins is key to comprehending these processes.
- Dysfunctional DSB repair is a significant factor in tumorigenesis.
Related Concept Videos
Overview of DNA Repair
Chemically...
Fixing Double-strand Breaks
Homologous Recombination
Overview of DNA Repair
Chemically...
Fixing Double-strand Breaks
Homologous Recombination

