Fujiwara Y, Ichihashi M, Kano Y, Goto K, Shimizu K
J Invest Dermatol. 1981 Sep;77(3):256-63. doi: 10.1111/1523-1747.ep12482447.
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. Thus, the UV81KO disorder is put forward as a new photodermatosis with a defect in the recovery of post-UV DNA synthesis.
对一名8岁的男性患者（称为UV81KO）进行了研究，该患者无过敏反应，仅有急性复发性晒伤，无任何其他身体或神经精神发育迟缓。患者的皮肤在280至300纳米单色波长之间的最小红斑剂量降低，且红斑无延迟峰值。培养的UV81KO皮肤成纤维细胞对254纳米紫外线杀伤的敏感性比正常细胞高5倍，尽管 obligatory杂合子的反应正常。UV81KO细胞对荧光太阳灯（295 - 300纳米UV - B）辐射、4 - 硝基喹啉 - 1 - 氧化物和N - 羟基 - 乙酰氨基芴的杀伤也更敏感，但对单功能脱氨甲酰丝裂霉素C、双功能丝裂霉素C和烷化剂（甲基磺酸甲酯、乙基磺酸甲酯、N - 甲基 - N - 亚硝基脲）不敏感。对紫外线照射细胞中的非预定DNA合成、T4核酸内切酶V敏感位点（嘧啶二聚体）、阿拉伯糖基胞嘧啶加羟基脲引起的内源性切除 - 断裂积累、单链断裂重新连接以及脉冲追踪DNA的分子量增加进行检测，结果表明UV81KO细胞在核苷酸切除修复过程和复制旁路中没有明显可检测到的缺陷。尽管具有这样的修复能力，但UV81KO细胞在接受1和5 J/m²的254纳米紫外线照射后，DNA合成的恢复存在缺陷，而在该剂量下正常细胞能够恢复。UV81KO细胞中姐妹染色单体交换（SCEs）的基线水平（10 - 12个SCEs/细胞）高于正常细胞（5个SCEs/细胞），尽管UV81KO细胞中254纳米紫外线诱导SCEs的速率与正常细胞相同。这些临床、细胞和分子特征以及与其他光皮肤病（着色性干皮病、科凯恩综合征、11961疾病、布卢姆综合征）的比较，能够明确区分UV81KO与其他疾病。因此，UV81KO疾病被提出作为一种新的光皮肤病，其在紫外线后DNA合成恢复方面存在缺陷。
