Complementation studies in cells from patients affected by trichothiodystrophy with normal or enhanced UV photosensitivity.
A normal level of UV-induced DNA-repair synthesis (UDS) was observed in fibroblasts from a patient affected by trichothiodystrophy (TTD) without photosensitivity. This finding indicates that the hypersensitivity to UV light and the reduced UDS due to the presence of xeroderma pigmentosum complementation group D mutation (XP-D), described in photosensitive TTD patients, are not constantly associated with TTD. Complementation analysis in heterokaryons, obtained by fusion of repair-proficient with repair-deficient TTD cells, demonstrates that cells from the patient showing normal photosensitivity are able to restore UDS in UV-hypersensitive TTD cells.
D002459:Cell Fusion; D002478:Cells, Cultured; D004260:DNA Repair; D005347:Fibroblasts / Q000528:radiation effects / Q000648:ultrastructure; D005816:Genetic Complementation Test; D006201:Hair Diseases / Q000145:classification / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D010787:Photosensitivity Disorders / Q000235:genetics*; D013455:Sulfur / Q000378:metabolism; D014466:Ultraviolet Rays; D014983:Xeroderma Pigmentosum / Q000235:genetics
D013455:Sulfur