Differences in patterns of complementation of the more common groups of xeroderma pigmentosum: Possible implications
Differences in patterns of complementation of the more common groups of xeroderma pigmentosum: Possible implications
复制标题
较常见的着色性干皮病群体的互补模式的差异：可能的影响
DOI：
10.1016/0092-8674(82)90161-1
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发表时间：
1982
期刊：
影响因子：
64.5
通讯作者：
J. Avery
中科院分区：
文献类型：
--
作者：
F. Giannelli;S. A. Pawsey;J. Avery
组A、C和D的着色性干皮病显示互补在动力学、依赖于野生型等位基因的剂量和依赖于蛋白质合成方面不同。这种差异表明XP-A、XP-C和XP-D在不同的位点携带突变。第一个位点的产物（因子A）在正常成纤维细胞中明显过量，似乎迅速转变，可能是二聚体或更高的聚合物。其他两个基因座（因子C和D）的产物似乎并不存在于正常成纤维细胞的细胞质中，但因子C可能在XP-D中异常积累。因子C和D的周转缓慢（D比C多），它们不能从细胞核中自由移动。至少因子A和C似乎是直接起作用的，而不是通过基因调控。
Xeroderma pigmentosum of groups A, C and D shows complementation differing in kinetics, dependence on the dose of wild-type alleles and dependence on protein synthesis. Such differences suggest that XP-A,-C and-D carry mutations at different loci. The product of the first of these loci (factor A) is present in significant excess in normal fibroblasts, seems to turn over rapidly and may be a dimer or higher polymer. The products of the other two loci (factors C and D) do not seem to be present in significant excess in the cytoplasm of normal fibroblasts, but factor C may accumulate abnormally in XP-D. Factors C and D turn over slowly (D more than C) and they do not move freely from the cell nucleus. Factors A and C, at least, seem to act directly and not via gene regulation.