Xeroderma pigmentosum (XP) patients fail to remove pyrimidine dimers caused by sunlight and, as a consequence, develop multiple cancers in areas exposed to light. The second most common sign, present in 20-30% of XP patients, is a set of neurological abnormalities caused by neuronal death in the central and peripheral nervous systems. Neural tissue is shielded from sunlight-induced DNA damage, ...

EDITOR,—Xeroderma pigmentosum (XP), a rare autosomal recessive disorder characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation, manifesting mainly as intolerance of skin and eyes to light, has been described in all races, but is exceedingly rare in the negroid race, although some cases have been reported in both the American and African ...

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder. Considering that XP patients have a defect of the nucleotide excision repair (NER) pathway which enables them to repair DNA damage caused by UV light, they have an increased risk of developing skin and eyes cancers. In the present study, we investigated the involvement of the prevalent XPA and XPC genes mutations-nonsense mutati...

Xeroderma Pigmentosum is a human disease, which is, among others, characterized by a high incidence of (sunlight induced) skin cancer, due to a defect in nucleotide excision repair (NER). The human DNA repair gene XPAC corrects this defect in cells isolated from Xeroderma Pigmentosum complementation group A (XP-A) patients. To enable the development of a transgenic mouse model for XP-A by gene ...

XPG (Xeroderma pigmentosum group G complementing factor) is a protein associated with DNA repair and transcription. Point mutations in ERCC5, the gene coding for XPG, cause the cancer-prone disorder xeroderma pigmentosum (XP) while truncation mutations give rise to individuals with the combined clinical features of XP and Cockayne syndrome. Polymorphisms of ERCC5 or alterations in XPG mRNA expr...

Human fibroblasts and HeLa cells contain two major DNA-binding activities for superhelical DNA, which can be separated by phosphocellulose chromatography. The DNA-binding activity which elutes first from the column coelutes with and is probably identical to a single-stranded-DNA-binding activity. The second activity has been characterized previously. It binds preferentially to super-helical DNA...

EDITOR,—Xeroderma pigmentosum (XP), a rare autosomal recessive disorder characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation, manifesting mainly as intolerance of skin and eyes to light, has been described in all races, but is exceedingly rare in the negroid race, although some cases have been reported in both the American and African ...

Nucleotide excision repair, which is defective in xeroderma pigmentosum (XP), involves incision of a DNA strand on each side of a lesion. We isolated a human gene homologous to yeast Rad1 and found that it corrects the repair defects of XP group F as well as rodent groups 4 and 11. Causative mutations and strongly reduced levels of encoded protein were identified in XP-F patients. The XPF prote...

EDITOR,—Xeroderma pigmentosum (XP), a rare autosomal recessive disorder characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation, manifesting mainly as intolerance of skin and eyes to light, has been described in all races, but is exceedingly rare in the negroid race, although some cases have been reported in both the American and African ...