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PMID: 164028 Published · ppublish English Journal Article

Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates.

National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20014, USA.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 72 ·No. 1 ·1975-01-00 ·Pages 59-63

Kraemer KH, Coon HG, Petinga RA, Barrett SF, Rahe AE, Robbins JH

Abstract

Fibroblast strains from 12 patients with xeroderma pigmentosum had lower than normal rates of DNA repair, as determined by autoradiographic studies of ultraviolet-induced unscheduled nuclear DNA synthesis. The nuclei in binuclear cells, obtained by fusing fibroblasts from certain pairs of these strains, had a greater rate of DNA repair than the nuclei of either strain's unfused mononuclear cells. These results indicate that complementary corrections of the strains' repair defects had occurred in the fused cells. Four complementation groups were found, indicating that at least four mutations caused decreased DNA repair among these 12 strains. The unfused mononuclear cells of each group had a characteristic rate of repair that differed from the rates of the other groups.

MeSH Terms
Autoradiography Cell Fusion Cell Transformation, Neoplastic DNA/biosynthesis DNA Repair DNA Replication Fibroblasts Genetic Complementation Test Humans Hybrid Cells/metabolism Mutation Parainfluenza Virus 1, Human Phenotype Thymidine/metabolism Tritium Ultraviolet Rays Xeroderma Pigmentosum/genetics,metabolism
Chemicals
Tritium DNA Thymidine
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Kraemer K H
Coon H G
Petinga R A
Barrett S F
Rahe A E
Robbins J H
References (20)
20 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.72.1.59
Published
1975-01-00
Pages
59-63
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC432240
Subset
IM
Grants
Intramural NIH HHS · Z99 CA999999 · United States
External Links
PubMed source DOI: 10.1073/pnas.72.1.59 PMC Full Text View journal details
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