A NEW UV-SENSITIVE SYNDROME NOT BELONGING TO ANY COMPLEMENTATION GROUPS OF XERODERMA-PIGMENTOSUM OR COCKAYNE-SYNDROME - SIBLINGS SHOWING BIOCHEMICAL CHARACTERISTICS OF COCKAYNE-SYNDROME WITHOUT TYPICAL CLINICAL MANIFESTATIONS
A NEW UV-SENSITIVE SYNDROME NOT BELONGING TO ANY COMPLEMENTATION GROUPS OF XERODERMA-PIGMENTOSUM OR COCKAYNE-SYNDROME - SIBLINGS SHOWING BIOCHEMICAL CHARACTERISTICS OF COCKAYNE-SYNDROME WITHOUT TYPICAL CLINICAL MANIFESTATIONS
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DOI：
10.1016/0921-8777(94)90068-x
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发表时间：
1994-05-01
期刊：
影响因子：
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通讯作者：
YAMAIZUMI, M
中科院分区：
文献类型：
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作者：
ITOH, T;ONO, T;YAMAIZUMI, M
我们在这里报告的两个兄弟姐妹谁没有临床表现，除了轻微的皮肤光敏性和皮肤色素沉着，但有生化特征的Cockayne综合征（CS）。来自患者的成纤维细胞（Kps 2和Kps 3）对UV的敏感性比正常细胞高3-4倍。虽然这些细胞的程序外DNA合成（UDS）处于正常水平，但UV照射后RNA合成（RRS）的恢复受到严重抑制。将噬菌体T4核酸内切酶V显微注射到细胞中，将UV照射后的RRS校正到接近正常的水平。这些结果表明，环丁烷型嘧啶二聚体的DNA修复受损的细胞和生化特性相似的CS细胞。然而，与CS组A和B细胞的细胞融合互补试验导致UV照射后RRS的校正。与XP组A、B、D、F和G细胞的细胞融合也校正了UV照射后的RRS，并且显微注射从Kps 3细胞制备的细胞提取物校正了XP组C和E细胞中的UDS，表明患者不属于XP或CS的任何互补组。这些结果表明，患者有一个新的紫外线敏感综合征的生化表型CS。
We report here on two siblings who show no clinical manifestations except for slight cutaneous photosensitivity and cutaneous pigmentation but have biochemical characteristics of Cockayne syndrome (CS). Fibroblasts derived from the patients (Kps2 and Kps3) were 3-4 times more sensitive to UV than normal cells. Although unscheduled DNA synthesis (UDS) in these cells was at a normal level, recovery of RNA synthesis (RRS) after UV irradiation was severely depressed. Microinjection of bacteriophage T4 endonuclease V into the cells corrected RRS after UV irradiation to a level near normal. These results indicate that DNA repair of cyclobutane-type pyrimidine dimers is impaired in the cells and the biochemical characteristics are similar to those of CS cells. However, cell fusion complementation tests with CS group A and B cells resulted in correction of RRS after UV irradiation. Cell fusion with XP group A, B, D, F and G cells also corrected RRS after UV irradiation, and microinjection of cell extracts prepared from Kps3 cells corrected UDS in XP group C and E cells, indicating that the patients do not belong to any complementation group of XP or CS. These results suggest that the patients have a new UV-sensitive syndrome with a biochemical phenotype of CS.