Related Experiment Video
Updated: Jun 26, 2026

Genetic Studies of Human DNA Repair Proteins Using Yeast as a Model System
Published on: March 18, 2010
Human DNA repair genes
R D Wood1, M Mitchell, J Sgouros
1Imperial Cancer Research Fund, Clare Hall Laboratories, Blanche Lane, South Mimms, Herts EN6 3LD, UK.
Abstract:
Cellular DNA is subjected to continual attack, both by reactive species inside cells and by environmental agents. Toxic and mutagenic consequences are minimized by distinct pathways of repair, and 130 known human DNA repair genes are described here. Notable features presently include four enzymes that can remove uracil from DNA, seven recombination genes related to RAD51, and many recently discovered DNA polymerases that bypass damage, but only one system to remove the main DNA lesions induced by ultraviolet light. More human DNA repair genes will be found by comparison with model organisms and as common folds in three-dimensional protein structures are determined. Modulation of DNA repair should lead to clinical applications including improvement of radiotherapy and treatment with anticancer drugs and an advanced understanding of the cellular aging process.
Insights
Human cells constantly repair DNA damage from internal and external sources. This review details 130 human DNA repair genes, highlighting key enzymes and repair pathways for improved cancer treatments and aging insights.
Area of Science:
- Molecular Biology
- Genetics
- Biochemistry
Background:
- Cellular DNA faces continuous damage from reactive species and environmental factors.
- DNA repair pathways are crucial for minimizing toxic and mutagenic consequences of damage.
- Understanding DNA repair mechanisms is vital for cellular health and disease prevention.
Purpose of the Study:
- To provide a comprehensive overview of known human DNA repair genes.
- To highlight significant features and recent discoveries in DNA repair mechanisms.
- To explore the potential clinical applications and future research directions in DNA repair.
Main Methods:
- Literature review and compilation of known human DNA repair genes.
- Analysis of gene families and functional roles, such as uracil removal and recombination.
- Identification of DNA polymerases involved in damage bypass and repair pathways.
Main Results:
- Description of 130 identified human DNA repair genes.
- Identification of four uracil-excising enzymes and seven RAD51-related recombination genes.
- Discovery of numerous DNA polymerases that bypass DNA damage, contrasting with limited systems for UV-induced lesions.
Conclusions:
- Further discovery of human DNA repair genes is expected through comparative genomics and structural biology.
- Modulation of DNA repair pathways holds promise for enhancing radiotherapy and anticancer drug efficacy.
- Advancing the understanding of DNA repair is key to unraveling cellular aging processes.
Related Concept Videos
Base Excision Repair
The first step of...
Long-patch Base Excision Repair
Genome Copying Errors
Base-pairing and DNA Repair
Base Excision Repair
The first step of...
Nucleotide Excision Repair
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...

