The interplay of mutations and electronic properties in disease-related genes

@article{Shih2012TheIO,
  title={The interplay of mutations and electronic properties in disease-related genes},
  author={Chi-Tin Shih and Stephen Anthony Wells and Ching-Ling Hsu and Yun-Yin Cheng and Rudolf A. R{\"o}mer},
  journal={Scientific Reports},
  year={2012},
  volume={2}
}
Electronic properties of DNA are believed to play a crucial role in many phenomena in living organisms, for example the location of DNA lesions by base excision repair (BER) glycosylases and the regulation of tumor-suppressor genes such as p53 by detection of oxidative damage. However, the reproducible measurement and modelling of charge migration through DNA molecules at the nanometer scale remains a challenging and controversial subject even after more than a decade of intense efforts. Here… 
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References

SHOWING 1-10 OF 78 REFERENCES
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database
TLDR
It is shown that loss of transactivation capacity is a key factor for the selection of missense mutations, and that difference in mutation frequencies is closely related to nucleotide substitution rates along TP53 coding sequence, which provides new insights into the factors that shape mutation patterns and influence mutation phenotype.
Point-mutation effects on charge-transport properties of the tumor-suppressor gene p53.
TLDR
It is suggested that charge transport could play a significant role for DNA-repairing deficiency yielding carcinogenesis, in contrast to noncancerous mutations, which tend to result in significantly weaker changes of transmission properties.
DNA double-strand breaks: signaling, repair and the cancer connection
TLDR
Recent progress is described in understanding of how cells detect and signal the presence and repair of one particularly important form of DNA damage induced by ionizing radiation—the DNA double-strand break (DSB).
MUTATIONAL HOT SPOTS IN DNA: WHERE BIOLOGY MEETS PHYSICS
TLDR
DNA is the key molecule for cell reproduction and functionality and contains several functional components surrounded by a membrane protecting them from accidental damage.
Electronic transport in DNA.
TLDR
It is found that random and lambda-DNA have localization lengths allowing for electron motion among a few dozen basepairs only, and a novel enhancement of localization lengths is observed at particular energies for an increasing binary backbone disorder.
Human Gene Mutation Database (HGMD®): 2003 update
TLDR
Since its inception, HGMD has been expanded to include cDNA reference sequences for more than 87% of listed genes, splice junction sequences, disease‐associated and functional polymorphisms, as well as links to data present in publicly available online locus‐specific mutation databases.
Electron trap for DNA-bound repair enzymes: a strategy for DNA-mediated signaling.
TLDR
Electron trapping on DNA in solution with bound BER enzymes by electron paramagnetic resonance (EPR) spectroscopy is shown, supporting a mechanism for DNA repair that involves DNA-mediated charge transport.
A role for DNA-mediated charge transport in regulating p53: Oxidation of the DNA-bound protein from a distance
TLDR
DNA-mediated oxidation of p53 parallels that seen by treating cells with hydrogen peroxide and indicates a unique mechanism using DNA-mediated CT chemistry by which p53 activity on different promoters may be controlled globally under conditions of oxidative stress.
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