hRAD30 mutations in the variant form of xeroderma pigmentosum
hRAD30 mutations in the variant form of xeroderma pigmentosum
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DOI：
10.1126/science.285.5425.263
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发表时间：
1999-07-09
期刊：
影响因子：
56.9
通讯作者：
Prakash, L
中科院分区：
文献类型：
--
作者：
Johnson, RE;Kondratick, CM;Prakash, L
着色性干皮病（XP）是一种常染色体隐性遗传病的特点是高发病率的皮肤癌。酵母RAD30编码一种DNA聚合酶，参与无差错绕过紫外线（UV）损伤。该研究表明，XP变体（XP- v）细胞系在hRAD30（酵母RAD30的人类对应物）中携带无意义或移码突变。在鉴定出的8个突变中，有7个会导致hRad30蛋白严重截断。这些结果表明，XP-V是由hRAD30缺陷引起的，这表明hRAD30对紫外线损伤的无错误复制在减少阳光诱发皮肤癌的发生率方面起着重要作用。
Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by a high incidence of skin cancers. Yeast RAD30 encodes a DNA polymerase involved in the error-free bypass of ultraviolet (UV) damage. Here it is shown that XP variant (XP-V) cell lines harbor nonsense or frameshift mutations in hRAD30, the human counterpart of yeast RAD30. Of the eight mutations identified, seven would result in a severely truncated hRad30 protein. These results indicate that defects in hRAD30 cause XP-V, and they suggest that error-free replication of UV lesions by hRad30 plays an important role in minimizing the incidence of sunlight-induced skin cancers.