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.

Science (New York, N.Y.)
|February 22, 2001
PubMed

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 Repair01:54

Base Excision Repair

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The first step of...
Long-patch Base Excision Repair01:02

Long-patch Base Excision Repair

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Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Base-pairing and DNA Repair02:27

Base-pairing and DNA Repair

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Base Excision Repair01:54

Base Excision Repair

One of the common DNA damages is the chemical alteration of single bases by alkylation, oxidation, or deamination. The altered bases cause mispairing and strand breakage during replication. This type of damage causes minimal change to the DNA double helix structure and can be repaired by the base excision repair (BER) pathways. BER corrects damaged DNA sequences by removing the damaged base and restoring the original base sequence using the complementary strand as a template.
The first step of...
Nucleotide Excision Repair01:38

Nucleotide 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...