Vermeulen W, Jaeken J, Jaspers N G, Bootsma D, Hoeijmakers J H
MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
Am J Hum Genet. 1993 Jul;53(1):185-92.
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are two rare inherited disorders with a clinical and cellular hypersensitivity to the UV component of the sunlight spectrum. Although the two traits are generally considered as clinically and genetically distinct entities, on the biochemical level a defect in the nucleotide excision-repair (NER) pathway is involved in both. Classical CS patients are primarily deficient in the preferential repair of DNA damage in actively transcribed genes, whereas in most XP patients the genetic defect affects both "preferential" and "overall" NER modalities. Here we report a genetic study of two unrelated, severely affected patients with the clinical characteristics of CS but with a biochemical defect typical of XP. By complementation analysis, using somatic cell fusion and nuclear microinjection of cloned repair genes, we assign these two patients to XP complementation group G, which previously was not associated with CS. This observation extends the earlier identification of two patients with a rare combined XP/CS phenotype within XP complementation groups B and D, respectively. It indicates that some mutations in at least three of the seven genes known to be involved in XP also can result in a picture of partial or even full-blown CS. We conclude that the syndromes XP and CS are biochemically closely related and may be part of a broader clinical disease spectrum. We suggest, as a possible molecular mechanism underlying this relation, that the XPGC repair gene has an additional vital function, as shown for some other NER genes.
着色性干皮病(XP)和科凯恩综合征(CS)是两种罕见的遗传性疾病,在临床和细胞水平上对阳光光谱中的紫外线成分表现出超敏反应。尽管这两种病症通常被认为在临床和遗传上是不同的实体,但在生化水平上,两者都涉及核苷酸切除修复(NER)途径的缺陷。典型的CS患者主要在活跃转录基因的DNA损伤优先修复方面存在缺陷,而在大多数XP患者中,基因缺陷影响“优先”和“整体”NER模式。在此,我们报告了对两名无关的、病情严重的患者进行的遗传学研究,这两名患者具有CS的临床特征,但存在典型的XP生化缺陷。通过体细胞融合和克隆修复基因的核显微注射进行互补分析,我们将这两名患者归为XP互补组G,该组之前与CS无关。这一观察结果扩展了之前分别在XP互补组B和D中鉴定出的两名具有罕见的XP/CS联合表型患者的研究。这表明,已知参与XP的七个基因中至少有三个基因的某些突变也可能导致部分甚至完全典型的CS表现。我们得出结论,XP和CS综合征在生化上密切相关,可能是更广泛临床疾病谱的一部分。我们提出,作为这种关系潜在的一种可能分子机制,正如其他一些NER基因所示,XPGC修复基因具有额外的重要功能。