Ahrens C, Grewe M, Berneburg M, Grether-Beck S, Quilliet X, Mezzina M, Sarasin A, Lehmann A R, Arlett C F, Krutmann J
Clinical and Experimental Photodermatology, Department of Dermatology, Heinrich Heine University, Moorenstrasse 5, D-40225 Düsseldorf, Germany.
Proc Natl Acad Sci U S A. 1997 Jun 24;94(13):6837-41. doi: 10.1073/pnas.94.13.6837.
Cells from patients with xeroderma pigmentosum complementation group D (XP-D) and most patients with trichothiodystrophy (TTD) are deficient in excision repair of ultraviolet (UV) radiation-induced DNA damage. Although in both syndromes this defect is based on mutations in the same gene, XPD, only XP-D, not TTD, individuals have an increased risk of skin cancer. Since the reduction in DNA repair capacity is similar in XP-D and TTD patients, it cannot account for the difference in skin cancer risk. The features of XP-D and TTD might therefore be attributable to differences in the immune response following UV-irradiation, a factor which is presumed to be important for photocarcinogenesis. We have measured the capacity of UVB radiation to inhibit expression of the immunological key molecule intercellular adhesion molecule 1 (ICAM-1) in cells from three healthy individuals in comparison to cells from three XP-D and three TTD patients. Cells from XP-D patients, but not from TTD patients, exhibited an increased susceptibility to UVB radiation-induced inhibition of ICAM-1 expression. Transfection of XP-D cells with the wild-type XPD cDNA, but not with XPC cDNA, corrected this abnormal phenotype. Thus, the skin cancer risk in DNA repair-defective individuals correlated with the susceptibility of their cells to UVB radiation-induced inhibition of ICAM-1 expression, rather than with their defect in DNA repair. The XPD protein has dual roles: in DNA repair and transcription. The transcriptional role might be important for the control of expression of immunologically relevant genes and thereby contribute to the skin cancer risk of a DNA-repair-deficient individual.
患有着色性干皮病互补组D(XP-D)的患者以及大多数毛发硫营养不良(TTD)患者的细胞,在紫外线(UV)辐射诱导的DNA损伤切除修复方面存在缺陷。尽管在这两种综合征中,这种缺陷都是基于同一基因XPD的突变,但只有XP-D患者而非TTD患者患皮肤癌的风险增加。由于XP-D和TTD患者的DNA修复能力下降情况相似,所以这无法解释皮肤癌风险的差异。因此,XP-D和TTD的特征可能归因于紫外线照射后免疫反应的差异,而这一因素被认为对光致癌作用很重要。我们测量了紫外线B(UVB)辐射抑制三名健康个体细胞中免疫关键分子细胞间黏附分子1(ICAM-1)表达的能力,并与三名XP-D患者和三名TTD患者的细胞进行了比较。XP-D患者的细胞而非TTD患者的细胞,对UVB辐射诱导的ICAM-1表达抑制表现出更高的敏感性。用野生型XPD cDNA而非XPC cDNA转染XP-D细胞可纠正这种异常表型。因此,DNA修复缺陷个体的皮肤癌风险与其细胞对UVB辐射诱导的ICAM-1表达抑制的敏感性相关,而非与其DNA修复缺陷相关。XPD蛋白具有双重作用:参与DNA修复和转录。转录作用可能对免疫相关基因表达的控制很重要,从而导致DNA修复缺陷个体患皮肤癌的风险增加。