title: DNA polymerases and human disease.
abstract: The human genome encodes at least 14 DNA-dependent DNA polymerases--a surprisingly large number. These include the more abundant, high-fidelity enzymes that replicate the bulk of genomic DNA, together with eight or more specialized DNA polymerases that have been discovered in the past decade. Although the roles of the newly recognized polymerases are still being defined, one of their crucial functions is to allow synthesis past DNA damage that blocks replication-fork progression. We explore the reasons that might justify the need for so many DNA polymerases, describe their function and mode of regulation, and finally consider links between mutations in DNA polymerases and human disease.
authors.affiliation: Department of Pathology University of Washington, K-072 HSB, BOX 357705, Seattle, Washington 98195-7705, USA. laloeb@u.washington.edu
authors.forename: Lawrence A
authors.initials: LA
authors.lastname: Loeb
authors.forename: Raymond J
authors.initials: RJ
authors.lastname: Monnat
mesh_terms: D002877:Chromosomes, Human / Q000378:metabolism / Q000502:physiology; D004261:DNA Replication / Q000235:genetics / Q000502:physiology; D004259:DNA-Directed DNA Polymerase / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D004194:Disease / Q000209:etiology*; D016503:Drug Delivery Systems; D015971:Gene Expression Regulation, Enzymologic; D015894:Genome, Human / Q000502:physiology; D006801:Humans; D008954:Models, Biological; D013812:Therapeutics
chemical_list: D004259:DNA-Directed DNA Polymerase