Li L, Bales E S, Peterson C A, Legerski R J
Department of Molecular Genetics, University of Texas M.D. Anderson Cancer Center, Houston 77030.
Nat Genet. 1993 Dec;5(4):413-7. doi: 10.1038/ng1293-413.
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.
着色性干皮病（XP）是一种罕见的人类常染色体隐性疾病，其特征是身体暴露于阳光下的部位出现加速的慢性退化，包括患皮肤癌的风险升高。我们最近报告了分离出一个可弥补培养的XP - C细胞修复缺陷的基因XPCC。在此，我们报告了对五个XP - C细胞系中XPCC在核苷酸水平上的特征分析结果。每个细胞系都表现出一种独特的突变，该突变与细胞DNA修复缺陷以及疾病的临床严重程度密切相关。这些结果扩展了我们之前的观察结果，并表明XPCC缺陷导致了C组着色性干皮病。
