Open AccessDeficient DNA Repair in Human Progeroid Cells
Author(s) -
J. Epstein,
Jerry R. Williams,
John B. Little
Publication year - 1973
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.70.4.977
Subject(s) - progeria , dna repair , premature aging , dna , werner syndrome , biology , xeroderma pigmentosum , dna damage , cell culture , in vitro , microbiology and biotechnology , cancer research , genetics , rna , helicase , gene
Skin fibroblasts biopsied from a patient with clinical symptoms of the Hutchinson-Gilford progeria syndrome failed to show evidence of normal DNA strand rejoiningin vitro after exposure to cobalt-60 gamma irradiation. Control human diploid fibroblasts of fetal origin in early passage, skin fibroblasts of adult origin, and an established line of human liver cells (LICH) all showed essentially complete rejoining of radiation-induced strand breaks within 30 min after irradiation, as evidenced by DNA sedimentation profiles in alkaline sucrose gradients. The results suggest that an enzyme involved in DNA repair may be absent or greatly reduced in efficiency in cells from this patient with the progeria syndrome. Such a repair-deficient cell strain may prove useful in the study of the molecular events associated with x-ray-type damage and its repair in mammalian cells.