Human diseases associated with defective DNA excision repair.
DNA excision repair is the process used by cells to remove damage from DNA such as that caused by ultraviolet light and many chemicals. Dysfunction of excision repair in humans can lead to heritable diseases in which individuals are sensitive to mutagens, and have an increased risk of skin cancer. The best studied syndrome of this type is xeroderma pigmentosum. Recent research has revealed the genes which encode several different components of DNA excision repair. Work has begun on the protein products encoded by these genes, with the aim of elucidating the detailed biochemical mechanism of the DNA excision repair pathway.
Wood
R D
RD
Imperial Cancer Research Fund, South Mimms.
D003057:Cockayne Syndrome / Q000235:genetics*; D004249:DNA Damage; D004260:DNA Repair; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics*; D013455:Sulfur / Q000172:deficiency; D014983:Xeroderma Pigmentosum / Q000235:genetics*
D013455:Sulfur