Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, Sarasin A, Harper J I, Arlett C F, Hoeijmakers J H
Consiglio Nazionale delle Richerche, Instituto di Genetica Biochemica Evoluzionistica, Pavia, Italy.
Am J Hum Genet. 1993 Oct;53(4):817-21.
The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most cases with a defect in the ability to carry out excision repair of UV damage. Seven genetically distinct complementation groups (i.e., A-G) have been identified. A large proportion of patients with the unrelated disorder trichothiodystrophy (TTD), which is characterized by hair-shaft abnormalities, as well as by physical and mental retardation, are also deficient in excision repair of UV damage. In most of these cases the repair deficiency is in the same complementation group as is XP group D. We report here on cells from a patient, TTD1BR, in which the repair defect complements all known XP groups (including XP-D). Furthermore, microinjection of various cloned human repair genes fails to correct the repair defect in this cell strain. The defect in TTD1BR cells is therefore in a new gene involved in excision repair in human cells. The finding of a second DNA repair gene that is associated with the clinical features of TTD argues strongly for an involvement of repair proteins in hair-shaft development.
对阳光敏感、易患癌症的遗传性疾病着色性干皮病（XP）在大多数情况下与紫外线损伤切除修复能力缺陷有关。已鉴定出七个基因不同的互补组（即A - G）。很大一部分患有不相关疾病毛发硫营养不良（TTD）的患者也存在紫外线损伤切除修复缺陷，该疾病的特征是毛干异常以及身体和智力发育迟缓。在大多数这些病例中，修复缺陷与XP D组属于同一互补组。我们在此报告来自患者TTD1BR的细胞，其中修复缺陷可互补所有已知的XP组（包括XP - D）。此外，显微注射各种克隆的人类修复基因未能纠正该细胞系中的修复缺陷。因此，TTD1BR细胞中的缺陷存在于一个参与人类细胞切除修复的新基因中。发现第二个与TTD临床特征相关的DNA修复基因有力地证明了修复蛋白参与毛干发育。
