期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：1976
卷号：73
期号：4
页码：1169-1173
DOI：10.1073/pnas.73.4.1169
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：Endonuclease activity upon depurinated DNA was measured in extracts of cultured fibroblasts from xeroderma pigmentosum patients. Cell lines from complementation groups A, B, C, E, and the XP-variant had slightly reduced levels of activity, but cell lines from complementation group D had one-sixth of the normal activity. An altered pH dependence and a higher apparent Km for substrate in D-cell lines indicate that the remaining activity is also qualitatively different from the activity found in normal cells. A higher Km was also found in cell lines from the A-complementation group but not in cell lines from the C-complementation group. These defects in apurinic DNase might account for the neurological disorders in patients from the D- and the A-complementation groups.
