A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation
A non-sensitive, 8-yr-old male patient (termed UV81KO) with only acute recurrent sunburns and without any other physical or neuromental retardations was studied. The patient's skin exhibited lowered minimal erythema doses between 280 and 300 nm monochromatic wavelengths without delayed peaking of erythema. UV81KO skin fibroblasts in culture was 5-fold more sensitive to 254 nm UV killing than normal cells, though the response of obligatory heterozygotes was normal. UV81KO cells were also more sensitive to killings by fluorescent sunlamp (295-300 nm UV-B) radiation, 4-nitroquinoline-1-oxide, and N-hydroxy-acetyl aminofluorene, but not by monofunctional decarbamoyl mitomycin C, bifunctional mitomycin C, and alkylating agents (methyl methanesulfonate, ethyl methanesulfonate, N-methyl-N-nitrosourea). Assays for unscheduled DNA synthesis, T4 endonuclease V-susceptible sites (pyrimidine dimers), endogenous excision-break accumulation by arabinofuranosyl cytosine-plus-hydroxyurea, single-strand-break rejoining, and molecular-weight increase of pulse-chased DNA in irradiated cells indicated no apparently detectable defects in nucleotide-excision repair processes and in replicative bypass in UV81KO cells. Despite the repair proficiency as such, UV81KO cells showed the defective recovery of DNA synthesis after 254 nm UV irradiation with 1 and 5 J/m2, at which dose the recovery occurred in normal cells. The base line level of sister-chromatid exchanges (SCEs) was higher in UV81KO cells (10-12 SCEs/cell) than in normal cells (5 SCEs/cell), although the induction rate of SCEs by 254 nm UV in UV81KO cells was the same as in normal cells. Such clinical, cellular and molecular characteristics and comparison to those in the other photodermatoses (xeroderma pigmentosum, Cockayne's syndrome, the 11961 disorder, Bloom's syndrome) can make a clear distinction of UV81KO from the others.
- OSTI ID:
- 5306533
- Journal Information:
- J. Invest. Dermatol.; (United States), Vol. 77:3
- Country of Publication:
- United States
- Language:
- English
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59 BASIC BIOLOGICAL SCIENCES
DNA
BIOLOGICAL REPAIR
FIBROBLASTS
RADIOSENSITIVITY
SKIN
BIOLOGICAL RADIATION EFFECTS
SKIN DISEASES
PATHOLOGY
BIOLOGICAL PATHWAYS
CHROMOSOMES
ERYTHEMA
PATIENTS
SOLAR RADIATION
ULTRAVIOLET RADIATION
ANIMAL CELLS
BIOLOGICAL EFFECTS
BIOLOGICAL RECOVERY
BODY
CONNECTIVE TISSUE CELLS
DISEASES
ELECTROMAGNETIC RADIATION
NUCLEIC ACIDS
ORGANIC COMPOUNDS
ORGANS
RADIATION EFFECTS
RADIATIONS
RECOVERY
REPAIR
SOMATIC CELLS
STELLAR RADIATION
SYMPTOMS
560151* - Radiation Effects on Animals- Man
560115 - Radiation Effects on Biochemicals- In Man- (-1987)
550200 - Biochemistry