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. 1976 Apr;73(4):1169–1173. doi: 10.1073/pnas.73.4.1169

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

U Kuhnlein, E E Penhoet, S Linn
PMCID: PMC430222  PMID: 1063398

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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Selected References

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