title: [DNA repair enzymes and their genes].
abstract: DNA repair is of fundamental importance for protection of the genetic material against mutations in an interplay with mechanisms that regulate the cell cycle, gene expression, and programmed cell death. Defects in DNA repair, or in processes in tegrated with DNA repair, may give cells a hyper mutable phenotype that increases the likelihood of mutations in genes controlling cell growth. Two principally different DNA repair mechanisms are known; (a) direct repair of a damaged base by a single enzyme without using information from the complementary strand, and (b) excision repair, in which DNA containing the damage is removed and replaced by new DNA using DNA repair synthesis. Mechanisms for excision repair are complex and comprise base excision repair (BER), nucleotide excision repair (NER), mismatch repair (MMR), and recombination repair. In addition, the cell has mechanisms for repair of strand breaks. It has recently become clear that defective MMR is the cause of hereditary nonpolyposis colon cancer (HNPCC), and probably some 15% of the cases of sporadic colon cancer. There is also evidence that defective repair may be a primary cause of certain other forms of cancer.
authors.affiliation: Institutt for kreftforskning og molekylaerbiologi Det medisinske fakultet Norges teknisk-naturvitenskapelige universitet, Trondheim.
authors.forename: H E
authors.initials: HE
authors.lastname: Krokan
authors.forename: G
authors.initials: G
authors.lastname: Slupphaug
mesh_terms: D004249:DNA Damage; D004252:DNA Mutational Analysis; D004260:DNA Repair; D004798:Enzymes / Q000235:genetics*; D006801:Humans
chemical_list: D004798:Enzymes
vernacular_title: DNA-reparasjonsenzymer og deres gener.