Abstract
Xeroderma pigmentosum (XP) is a rare autosomal disorder characterized by hypersensitivity of the skin to sunlight specifically to ultraviolet (UV) which can lead to high rate of susceptibility to skin cancer and other kinds of neurodegenerative problems. Compared to normal individuals, XP patients have a more than 1000-fold increased risk of developing skin cancer on sun-exposed areas of their body. Genetic and molecular analyses have revealed that the repair of UV-induced DNA damage is impaired in XP patients owing to mutations in genes that form part of a DNA-repair pathway known as nucleotide excision repair (NER). XP is, therefore, regarded as a convincing human example of the link between DNA repair deficiency and cancer risk. However, this relationship has not been examined in detail in humans due to the limited number of XP patients and their frequent early death due to skin cancer and neurological problems. For these reasons are required the generation of equivalent animal models to determine their exact molecular mechanisms.
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Sun, XZ. et al. (2008). Animal Models of Xeroderma Pigmentosum. In: Ahmad, S.I., Hanaoka, F. (eds) Molecular Mechanisms of Xeroderma Pigmentosum. Advances in Experimental Medicine and Biology, vol 637. Springer, New York, NY. https://doi.org/10.1007/978-0-387-09599-8_17
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DOI: https://doi.org/10.1007/978-0-387-09599-8_17
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