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Need a SNP and GWA paper
DNA polymerases and DNA repair
McCulloch,S.D. and Kunkel,T.A. (2008). The fidelity of DNA synthesis by eukaryotic replicative and translesion synthesis polymerases. Cell Res. 18, 148-161.
Good overview on selected topics (gets very detailed at points) and does not cover BER or NER.
Abstract: In their seminal publication describing the structure of the DNA double helix, Watson and Crick wrote what may be one of the greatest understatements in the scientific literature, namely that "It has not escaped our notice that the specific pairing we have postulated immediately suggests a possible copying mechanism for the genetic material." Half a century later, we more fully appreciate what a huge challenge it is to replicate six billion nucleotides with the accuracy needed to stably maintain the human genome over many generations. This challenge is perhaps greater than was realized 50 years ago, because subsequent studies have revealed that the genome can be destabilized not only by environmental stresses that generate a large number and variety of potentially cytotoxic and mutagenic lesions in DNA but also by various sequence motifs of normal DNA that present challenges to replication. Towards a better understanding of the many determinants of genome stability, this chapter reviews the fidelity with which undamaged and damaged DNA is copied, with a focus on the eukaryotic B- and Y-family DNA polymerases, and considers how this fidelity is achieved.
Alberts,B. (2003). DNA replication and recombination. Nature 421, 431-435.
Abstract: Knowledge of the structure of DNA enabled scientists to undertake the difficult task of deciphering the detailed molecular mechanisms of two dynamic processes that are central to life: the copying of the genetic information by DNA replication, and its reassortment and repair by DNA recombination. Despite dramatic advances towards this goal over the past five decades, many challenges remain for the next generation of molecular biologists.
Notes: Rather historical review but the end has some new concepts. http://www.nature.com/nature/journal/v421/n6921/full/nature01407.html
Friedberg,E.C. (2003). DNA damage and repair. Nature 421, 436-440.
Abstract: The aesthetic appeal of the DNA double helix initially hindered notions of DNA mutation and repair, which would necessarily interfere with its pristine state. But it has since been recognized that DNA is subject to continuous damage and the cell has an arsenal of ways of responding to such injury. Although mutations or deficiencies in repair can have catastrophic consequences, causing a range of human diseases, mutations are nonetheless fundamental to life and evolution. http://www.nature.com/nature/journal/v421/n6921/full/nature01408.html
Trifunovic,A., Wredenberg,A., Falkenberg,M., Spelbrink,J.N., Rovio,A.T., Bruder,C.E., Bohlooly,Y., Gidlof,S., Oldfors,A., Wibom,R., Tornell,J., Jacobs,H.T., and Larsson,N.G. (2004). Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429, 417-423.
Источники бесперебойного питания, согласно действующим стандартам, классифицируют по принципу действия на три основные группы