title: Characterization of molecular defects in xeroderma pigmentosum group C.
abstract: Xeroderma pigmentosum (XP) is a rare autosomal recessive disease of humans characterized by an accelerated chronic degeneration of sun-exposed areas of the body, including an elevated risk of developing cancers of the skin. We recently reported the isolation of a gene XPCC that complements the repair deficiency of cultured XP-C cells. Here we report the results of a characterization of XPCC at the nucleotide level in five XP-C cell lines. Each cell line exhibited a unique mutation that correlated well with the cellular DNA repair deficiency and the clinical severity of the disease. These results extend our previous observations and indicate that defects in XPCC cause Xeroderma pigmentosum group C.
authors.affiliation: Department of Molecular Genetics, University of Texas M.D. Anderson Cancer Center, Houston 77030.
authors.forename: L
authors.initials: L
authors.lastname: Li
authors.forename: E S
authors.initials: ES
authors.lastname: Bales
authors.forename: C A
authors.initials: CA
authors.lastname: Peterson
authors.forename: R J
authors.initials: RJ
authors.lastname: Legerski
mesh_terms: D001483:Base Sequence; D015152:Blotting, Northern; D002460:Cell Line; D004252:DNA Mutational Analysis; D004260:DNA Repair / Q000235:genetics*; D006367:HeLa Cells; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D014983:Xeroderma Pigmentosum / Q000235:genetics* / Q000473:pathology