DNA repair in man: Regulation by a multigene family and association with human disease
DNA repair in man: Regulation by a multigene family and association with human disease
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人类 DNA 修复：多基因家族的调节及其与人类疾病的关联
DOI：
10.1002/bies.950060307
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发表时间：
1987
期刊：
影响因子：
4
通讯作者：
D. Karentz
中科院分区：
文献类型：
--
作者：
J. Cleaver;D. Karentz
DNA损伤修复的主要机制涉及DNA小区域的酶切和重新合成的概念上简单的过程。在人类和其他哺乳动物中，这一过程受几个基因位点的调控;可能涉及多达15个相互互补的基因或基因产物。修复缺陷导致皮肤、中枢神经系统以及造血和免疫系统中的一系列临床症状，主要实例是着色性干皮病（XP），一种癌症发病率高的疾病。通过直接的方法克隆修复基因已经被证明是困难的，但是我们已经开始了这项工作，证明了通过将非常小的DNA片段从正常仓鼠转移到XP细胞中可以纠正人类修复缺陷。XP细胞的互补组之一（C组）似乎表达基因调控的变化，使得这些细胞仅高效地修复DNA的小簇区域。
The major mechanism of repair of damage to DNA involves a conceptually simple process of enzymatic excision and resynthesis of small regions of DNA. In man and other mammals, this process is regulated by several gene loci; up to 15 mutually complementary genes or gene products may be involved. Repair deficiency results in an array of clinical symptoms in skin, central nervous system, and hematopoietic and immune systems, the major example being xeroderma pigmentosum (XP), a disease with a high incidence of cancer. Cloning repair genes by straightforward methods has proved difficult, but we have begun the effort by demonstrating that correction of a human repair deficiency can be achieved by transferring very small fragments of DNA from normal hamsters into XP cells. One of the complementation groups of XP cells (group C) appears to express a change in gene regulation such that these cells repair only a small clustered region of the DNA with high efficiency.
着色性干皮病 C 组（而非 D 组）的切除修复集中在总基因组的一小部分中。
DOI：
10.1016/0167-8817(86)90051-9
发表时间：
1986
期刊：
Mutation research
影响因子：
--
作者：
Karentz,D;Cleaver,JE
通讯作者：
Cleaver,JE