Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a heritable disease characterized by an extreme sensitivity of skin to UV radiation. Cells of XP patients and extracts of those cells are deficient in repair of DNA damage.
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Xeroderma Pigmentosum (XP)
XP is a rare inherited disease of humans which, among other things, predisposes the patient to
pigmented lesions on areas of the skin exposed to the sun and
an elevated incidence of skin cancer.
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Xeroderma pigmentosum is a genetic disease in which some repair enzymes do not function.
Organization of DNA
Chromosome Structure ...
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Mutation in this gene leads to one form of the disease syndrome xeroderma pigmentosum. Homologs of the XPF protein are present in fly, worm, plant, yeast and archea, indicating conservation of an essential function throughout all of evolution.
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A defect in a DNA repair gene called XP (Xeroderma pigmentosum) results in individuals who are very sensitive to UV light and have a thousand-fold increase in the incidence of all types of skin cancer.
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Unwinding is also necessary for
DNA repair
. Mutations in the helicase genes on chromosome 2q and 19q are one group of causes of the DNA repair defect xeroderma pigmentosum (an autosomal recessive disease). See also ...
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