XERODERMA PIGMENTOSUM - A HUMAN DISEASE IN WHICH AN INITIAL STAGE OF DNA REPAIR IS DEFECTIVE
XERODERMA PIGMENTOSUM - A HUMAN DISEASE IN WHICH AN INITIAL STAGE OF DNA REPAIR IS DEFECTIVE
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DOI：
10.1073/pnas.63.2.428
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发表时间：
1969-01-01
影响因子：
11.1
通讯作者：
CLEAVER, JE
中科院分区：
文献类型：
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作者：
CLEAVER, JE
纯合子着色性干皮病成纤维细胞不能修复DNA碱基的损伤，但可以修复涉及链断裂的损伤。因此，在着色性干皮病中，在修复的早期步骤中存在缺陷，在该步骤中识别碱基损伤并且多核苷酸链被酶促断裂（通过内切核酸酶）。杂合子成纤维细胞修复碱基损伤至正常程度。着色性干皮病的致癌作用，也许在一些正常个体中，可能是未修复的损伤引起的体细胞突变的结果。
Homozygous xeroderma pigmentosum fibroblasts cannot repair damage to DNA bases, but can repair damage that involves chain breaks. In xeroderma pigmentosum, therefore, there is a defect in an early step in repair at which base damage is recognized and the polynucleotide chain broken enzymatically (by an endonuclease). Heterozygous fibroblasts repair base damage to normal extents. Carcinogenesis in xeroderma pigmentosum, and perhaps in some normal individuals, may be the result of somatic mutations caused by unrepaired damage.