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Human DNA repair genes.

A Ronen1, B W Glickman

  • 1Centre for Environmental Health, University of Victoria, Victoria, British Columbia, Canada. Ronen@huji.ac.il

Environmental and Molecular Mutagenesis
|April 24, 2001
PubMed
Summary
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DNA repair genes maintain genome integrity. Disregulation of these genes increases cancer risk, birth defects, and aging. This report details over 125 human DNA repair genes and their variants.

Area of Science:

  • Genetics
  • Molecular Biology
  • Genomics

Background:

  • DNA repair systems are crucial for preserving genome integrity.
  • Disregulation of DNA repair genes is linked to severe health issues, including cancer and birth defects.
  • Over 125 human DNA repair genes have been identified, with established cDNA sequences.

Purpose of the Study:

  • To provide a comprehensive tabulation of current knowledge on human DNA repair genes.
  • To detail the genomic DNA sequence, cDNA sequence, and chromosomal locations for numerous DNA repair genes.
  • To highlight identified single-nucleotide polymorphisms and their association with specific disorders.

Main Methods:

  • Literature review and data compilation on identified DNA repair genes.
  • Analysis of genomic and cDNA sequences for established DNA repair genes.

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  • Identification and cataloging of single-nucleotide polymorphisms in DNA repair genes.

    • Main Results:

    • Over 125 human DNA repair genes have been identified, with sequences and functions elucidated.
    • Genomic and cDNA sequences, along with chromosomal locations, are known for approximately 70 DNA repair genes.
    • Single-nucleotide polymorphisms have been identified in 45 DNA repair genes, with some linked to specific disorders.

    Conclusions:

    • The number of identified DNA repair genes and sequence variants is rapidly increasing.
    • Understanding DNA repair gene function and variation is critical for comprehending genome integrity and disease.
    • This report serves as a valuable resource for researchers in genetics and molecular biology.