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PMID: 1063398 Published · ppublish English Journal Article Research Support, U.S. Gov't, Non-P.H.S.

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

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 73 ·No. 4 ·1976-04-00 ·Pages 1169-73

Kuhnlein U, Penhoet EE, Linn S

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.

MeSH Terms
Apurinic Acid/metabolism Cells, Cultured DNA Repair Endonucleases/metabolism Genetic Complementation Test Humans Kinetics Polynucleotides/metabolism Xeroderma Pigmentosum/enzymology,genetics
Chemicals
Polynucleotides Apurinic Acid Endonucleases
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Kuhnlein U
Penhoet E E
Linn S
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24 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.73.4.1169
Published
1976-04-00
Pages
1169-73
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC430222
Subset
IM
External Links
PubMed source DOI: 10.1073/pnas.73.4.1169 PMC Full Text View journal details
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