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. 1976 Apr;73(4):1169-73.
doi: 10.1073/pnas.73.4.1169.

An altered apurinic DNA endonuclease activity in group A and group D xeroderma pigmentosum fibroblasts

An altered apurinic DNA endonuclease activity in group A and group D xeroderma pigmentosum fibroblasts

U Kuhnlein et al. Proc Natl Acad Sci U S A. 1976 Apr.

Abstract

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.

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