Human DNA repair genes

DNA repair systems are essential for the maintenance of genome integrity. C onsequently, the disregulation of repair genes con be expected to be associ ated with significant, detrimental health effects, which can include an inc reased prevalence of birth defects, on enhancement of cancer risk, and an a ccelerated rate of aging. Although original insights into DNA repair and th e genes responsible were largely derived from studies in bacteria and yeast , well over 125 genes directly involved in DNA repair have now been identif ied in humans, and their cDNA sequence established. These genes function in a diverse set of pathways that involve the recognition and removal of DNA lesions, tolerance to DNA damage, and protection from errors of incorporati on made during DNA replication or DNA repair. Additional genes indirectly a ffect DNA repair, by regulating the cell cycle, ostensibly to provide an op portunity for repair or to direct the cell to apoptosis. For about 70 of th e DNA repair genes listed in Table I, both the genomic DNA sequence and the cDNA sequence and chromosomal location have been elucidated. In 45 cases s ingle-nucleotide polymorphisms have been identified and, in some cases, gen etic variants have been associated with specific disorders. With the accele rating rate of gene discovery, the number of identified DNA repair genes an d sequence variants is quickly rising. This report tabulates the current st atus of whet is known about these genes. The report is limited to genes who se function is directly related to DNA repair. Environ. Mol. Mutagen. 37:24 1-283, 2001. (C) 2001 Wiley-Liss, Inc.