Single-strand break repair and genetic disease
By K. Caldecott. Nature reviews genetics, 2008
1,014 citations recorded by the source corpus.
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.
Subfields: Cell Biology, Molecular Biology, Oncology
View Paper: https://www.semanticscholar.org/paper/938b40cb145709f1d37659dacc8d77e94364e4c8
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In Cell Biology
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In Oncology
Citations in the corpus
- DNA damage and its links to neurodegeneration (2014, neutral): “More indirectly, SSBs may also arise as intermediates of the BER pathway or as byproducts of abortive DNA topoisomerase I (TOP1) reactions (Caldecott, 2008).”
- PARP is activated at stalled forks to mediate Mre11‐dependent replication restart and recombination (2009, background): “Subsequent repair of SSBs includes XRCC1-ligase3, polymerase b, aprataxin (APTX) and the additional factors PCNA, polymerases d/e, FEN1 and ligase 1 in the case of long patch repair (Caldecott, 2008).”
- Oxidative Stress in Aging Human Skin (2015, background): “Besides the modification of DNA bases, ROS also induce single-strand breaks and to a lesser degree double strand breaks [287].”
- The DNA Damage Response: Making it safe to play with knives (2010, background): “SSBs are repaired by single-strand break repair (SSBR), whereas DSBs are processed either by nonhomologous end joining (NHEJ) or homologous recombination (HR) (Caldecott, 2008; West, 2003).”