uv-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes

Journal Article · Sat Dec 01 04:00:00 EST 1973 · Mutat. Res., v. 20, no. 3, pp. 417-428

DOI:https://doi.org/10.1016/0027-5107(73)90062-6· OSTI ID:4351908

Kleijer, W J; de Weerd-Kastelein, E A; Sluyter, M L; Keijzer, W; de Wit, J; Bootsma, D

The uv-induced DNA repair synthesis, as measured by autoradiography as well as by isopycnic centrifugation methods, was studied in a large number of cell strains from patients with the classic form of xeroderma pigmentosum (XP) or the De SanctisCacchione syndrome (DSC) and several of their heterozygous parents. On the basis of the kinetics of repair synthesis in the cultured skin fibroblasts we have recognized four distinct groups of XP patients: classic XP patients with low residual repair capacities, classic XP patients with intermediate, but dose- dependent, levels of repair sysnthesis relative to the normal level, patients, diagnosed as having classlc XP, with a normal or only slightly reduced repair capacity and DSC patients with a complete deficiency of repair synthesis. Complementation studies reported elsewhere have shown that different mutations are responsible for the defect in at least three of these groups. Cell strains of each of the four XP types were cble to rejoin single-strand DNA breaks induced by x-rays. Most of the cell strains derived from heterozygotes showed normal repair activities. However, in the parents some of the DSC-patients a significant reduction of the level of repair synthesis was found. (auth)

• Research Organization: Erasmus Univ., Rotterdam
• Sponsoring Organization: USDOE
• NSA Number: NSA-29-021114
• OSTI ID: 4351908
• Journal Information: Mutat. Res., v. 20, no. 3, pp. 417-428, Journal Name: Mutat. Res., v. 20, no. 3, pp. 417-428; ISSN MUREA
• Country of Publication: Country unknown/Code not available
• Language: English

Related Subjects

*DNA-- BIOLOGICAL REPAIR
*STRAND BREAKS-- RADIOINDUCTION
ANIMAL CELLS
BIOLOGICAL RADIATION EFFECTS
BIOSYNTHESIS
FIBROBLASTS
N48210* --Life Sciences--Radiation Effects on Cells-- External Source
PATIENTS
PHOTON BEAMS
SKIN
ULTRAVIOLET RADIATION
X RADIATION