title: Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C.
abstract: Xeroderma pigmentosum (XP) is a rare human autosomal recessive disease characterized by solar sensitivity, high predisposition for developing cancers on areas exposed to sunlight, and, in some cases, neurological abnormalities. XP cells are defective in DNA repair, and complementation of this defect has been used to identify eight genetic groups (A-G and variant). We have developed a simple, highly efficient complementary DNA expression system for use in human cells. Here we use this system to isolate a cDNA clone that restores the ultraviolet sensitivity and unscheduled DNA synthesis of XP-C cells to normal levels. The XP-C complementing clone XPCC encodes a highly hydrophilic protein which is composed of a predicted 823 amino acids and shares limited homology with the product of the yeast DNA repair gene RAD4. The XPCC transcript is undetectable by northern blotting in most XP-C cell lines examined.
authors.affiliation: Department of Molecular Genetics, University of Texas, M. D. Anderson Cancer Center, Houston 77030.
authors.forename: R
authors.initials: R
authors.lastname: Legerski
authors.forename: C
authors.initials: C
authors.lastname: Peterson
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D004260:DNA Repair / Q000235:genetics*; D005656:Fungal Proteins / Q000235:genetics*; D005816:Genetic Complementation Test; D006801:Humans; D008969:Molecular Sequence Data; D014983:Xeroderma Pigmentosum / Q000145:classification / Q000235:genetics*
chemical_list: D005656:Fungal Proteins