August 19, 2008
Single-strand break repair and genetic disease.
Publication Date: 2008 Aug PMID: 18626472
Authors: Caldecott, K. W.
Journal: Nat Rev Genet
Hereditary defects in the repair of DNA damage are implicated in a variety of diseases, many of which are typified by neurological dysfunction and/or increased genetic instability and cancer. Of the different types of DNA damage that arise in cells, single-strand breaks (SSBs) are the most common, arising at a frequency of tens of thousands per cell per day from direct attack by intracellular metabolites and from spontaneous DNA decay. Here, the molecular mechanisms and organization of the DNA-repair pathways that remove SSBs are reviewed and the connection between defects in these pathways and hereditary neurodegenerative disease are discussed.
MeSH Categories: Animals, Apraxias/genetics, Cell Cycle/genetics/physiology, Chromosomes, DNA Breaks, Double-Stranded, *DNA Breaks, Single-Stranded, DNA Repair/genetics/*physiology, DNA-Binding Proteins/genetics/physiology, Genetic Diseases, Inborn/*genetics, Humans, Models, Biological, Neoplasms/genetics, Nerve Degeneration/genetics, Nuclear Proteins/genetics/physiology, Oculomotor Nerve Diseases/genetics, Phosphoric Diester Hydrolases/genetics/physiology, Spinocerebellar Ataxias/genetics
post to: CiteULike
Authors: Caldecott, K. W.
Journal: Nat Rev Genet
Hereditary defects in the repair of DNA damage are implicated in a variety of diseases, many of which are typified by neurological dysfunction and/or increased genetic instability and cancer. Of the different types of DNA damage that arise in cells, single-strand breaks (SSBs) are the most common, arising at a frequency of tens of thousands per cell per day from direct attack by intracellular metabolites and from spontaneous DNA decay. Here, the molecular mechanisms and organization of the DNA-repair pathways that remove SSBs are reviewed and the connection between defects in these pathways and hereditary neurodegenerative disease are discussed.
MeSH Categories: Animals, Apraxias/genetics, Cell Cycle/genetics/physiology, Chromosomes, DNA Breaks, Double-Stranded, *DNA Breaks, Single-Stranded, DNA Repair/genetics/*physiology, DNA-Binding Proteins/genetics/physiology, Genetic Diseases, Inborn/*genetics, Humans, Models, Biological, Neoplasms/genetics, Nerve Degeneration/genetics, Nuclear Proteins/genetics/physiology, Oculomotor Nerve Diseases/genetics, Phosphoric Diester Hydrolases/genetics/physiology, Spinocerebellar Ataxias/genetics
post to: CiteULike
Filed under Genetics Publications by Nature Reviews Genetics
