Royer-Pokora B, Haseltine W A
Nature. 1984;311(5984):390-2. doi: 10.1038/311390a0.
Xeroderma pigmentosum (XP) is an autosomal recessive disease. Cells cultured from XP patients are hypersensitive to the lethal effects of UV light. Most XP cells are defective in an early stage in DNA repair of UV light-induced damage. The nature of the genetic defect of the XP syndrome has not been defined. To address this problem, we attempted to isolate UV-resistant cells from a cell line derived from an XP complementation group A (XPA) patient. By using a selection scheme capable of detecting one UV-resistant cell in a population of 10(8) cells, several UV-resistant clones were isolated at frequencies between 1 X 10(-7) and 2 X 10(-8). Here we describe the isolation and initial characterization of these phenotypic revertants.
着色性干皮病(XP)是一种常染色体隐性疾病。从XP患者身上培养的细胞对紫外线的致死效应高度敏感。大多数XP细胞在紫外线诱导损伤的DNA修复早期存在缺陷。XP综合征的遗传缺陷性质尚未明确。为了解决这个问题,我们试图从一名XP互补组A(XPA)患者的细胞系中分离出抗紫外线细胞。通过使用一种能够在10⁸个细胞群体中检测到一个抗紫外线细胞的筛选方案,以1×10⁻⁷至2×10⁻⁸的频率分离出了几个抗紫外线克隆。在此,我们描述这些表型回复突变体的分离及初步特征。