Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain
Article Abstract:
Xeroderma pigmentosum (XP) is a genetic disorder characterized by a high incidence of skin cancers, including malignant melanoma, which is often fatal. The genetic disorder is a defect in DNA repair mechanisms such that cells of XP patients are abnormally sensitive to sunlight. To identify the abnormal genetic sequence in XP patients, investigation of a candidate gene, XPAC, was carried out. This gene was added to cells from group A XP patients, and when the cells were subjected to ultraviolet light, they became ultraviolet-resistant. Cells from other XP types could not be made ultraviolet-resistant in this manner, indicating that the defect in XPAC distinguishes group A XP. The base sequence of XPAC was determined; preliminary results indicate that some proteins expressed by the gene are absent in group A XP cells, but not in those that were ultraviolet-resistant. Details regarding the structure of the XPAC protein are provided. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1990
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Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C
Article Abstract:
A complementary DNA (cDNA) system yields a clone that can rectify the abnormal sensitivity to ultraviolet radiation characteristic of xeroderma pigmentosum (XP), an autosomal recessive disorder. XP cells lack normal DNA repair that renders them vulnerable to sunlight and to an increased risk of cancer. However, a cDNA clone based on the plasmid pEBS7 of the Epstein-Barr virus normalized the ultraviolet resistance in the C variant of XP. This expression cloning technique overcame technical difficulties that had prevented isolation of DNA repair genes for XP.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1992
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High incidence of ultraviolet-B- or chemical-carcinogen-induced skin tumors in mice lacking the xeroderma pigmentosum group A gene
Article Abstract:
Group-A Xeroderma pigmentosum (XPA) proteins save mice from carcinogenesis due to chemicals and ultraviolet radiation, as revealed by the studies of XPA gene-deficient mice. XPA gene-deficient mice showed high susceptibility to chemical carcinogens and ultraviolet radiation, whereas no physical alterations and pathological changes were observed in the mice. The potential of XPA-deficient mice as in vivo models for studying high rates of skin cancers in Group-A Xeroderma pigmentosum patients is discussed.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1995
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