September 1, 2008

DNA polymerases and human disease.

Publication Date: 2008 Aug PMID: 18626473
Authors: Loeb, L. A. - Monnat, R. J. Jr
Journal: Nat Rev Genet

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.

MeSH Categories: Chromosomes, Human/metabolism/physiology, DNA Replication/genetics/physiology, DNA-Directed DNA Polymerase/genetics/metabolism/*physiology, Disease/*etiology, Drug Delivery Systems, Gene Expression Regulation, Enzymologic, Genome, Human/physiology, Humans, Models, Biological, Therapeutics

post to: CiteULike

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