Source: http://www.asmscience.org/content/book/10.1128/9781555816704.ch30
Timestamp: 2019-04-23 20:09:26+00:00

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This chapter focuses solely on the human as an experimental organism. The data discussed are derived from unique experimental approaches. There is substantial evidence that cancer segregates in many additional families, albeit at a reduced frequency compared with that for the more severe syndromes. There is also epidemiological evidence for significant variation in DNA repair capacity among individuals in the population and evidence that those with mildly reduced capacity may be more likely to exhibit a cancer predisposition. A great many publications have proposed associations between specific genetic variants (polymorphisms) in DNA repair and/or damage response genes and a cancer predisposition. Evidence documenting the impact of a polymorphism on protein function is generally lacking. Thus, the appreciation of a specific role for the variant proteins in disease, while logical in theory, remains an important aspect of DNA repair and mutagenesis that is still under development.
Repair-related genes mapping in close proximity to the XPC gene on human chromosome 3p25.1-25.3.
The most extensively characterized XPD gene polymorphisms, Asp312Asn and Lys751Gln, are at sites that are not conserved. Shades of gold illustrate regions of greatest conservation, while grey identifies nonconservative changes.
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