Abrahams P J, Houweling A, Cornelissen-Steijger P D, Jaspers N G, Darroudi F, Meijers C M, Mullenders L H, Filon R, Arwert F, Pinedo H M, Natarajan A P, Terleth C, Van Zeeland A A, van der Eb A J
MGC-Department of Molecular Cell Biology, Laboratory for Molecular Carcinogenesis, Leiden University Medical Centre, Netherlands.
Mutat Res. 1998 Mar;407(2):189-201. doi: 10.1016/s0921-8777(98)00009-3.
Host-cell reactivation (HCR) of UV-C-irradiated herpes simplex virus type 1 (HSV-1) has been determined in skin fibroblasts from the following hereditary cancer-prone syndromes: aniridia (AN), dysplastic nevus syndrome (DNS), Von Hippel-Lindau syndrome (VHL), Li-Fraumeni syndrome (LFS) and a family with high incidence of breast and ovarian cancer. Cells from AN, DNS or VHL patients were found to exhibit heterogeneity in HCR. Cells from individuals belonging to an LFS family show reduced HCR in all cases where the cells were derived from persons carrying one mutated p53 allele, whereas cells derived from members with two wild-type alleles show normal HCR. LFS cells with reduced HCR also reveal reduced genome overall repair, and a slower gene-specific repair of the active adenosine deaminase (ADA) gene, but little if any repair of the inactive 754 gene. In the breast/ovarian cancer family, reduced HCR is observed in skin fibroblasts derived from both afflicted and unaffected individuals. In addition, these cells display lower survival after exposure to UV-C and exhibit higher levels of SCEs than those in normal cells. These observations indicate that various hereditary cancer-prone syndromes, carrying mutations in different tumor-suppressor genes, exhibit an unexplained impairment of the capacity to repair UV-damaged DNA.
已在以下遗传性癌症易感综合征的皮肤成纤维细胞中测定了紫外线C照射的1型单纯疱疹病毒(HSV-1)的宿主细胞复活(HCR):无虹膜(AN)、发育异常痣综合征(DNS)、冯·希佩尔-林道综合征(VHL)、李-弗劳梅尼综合征(LFS)以及一个乳腺癌和卵巢癌高发家族。发现AN、DNS或VHL患者的细胞在HCR方面表现出异质性。在所有情况下,来自LFS家族个体的细胞,若源自携带一个p53突变等位基因的人,则HCR降低;而源自具有两个野生型等位基因成员的细胞则显示正常的HCR。HCR降低的LFS细胞还显示基因组整体修复减少,活性腺苷脱氨酶(ADA)基因的基因特异性修复较慢,但无活性的754基因几乎没有修复。在乳腺癌/卵巢癌家族中,在患病和未患病个体的皮肤成纤维细胞中均观察到HCR降低。此外,这些细胞在暴露于紫外线C后存活率较低,并且与正常细胞相比表现出更高水平的姐妹染色单体交换(SCE)。这些观察结果表明,携带不同肿瘤抑制基因突变的各种遗传性癌症易感综合征,在修复紫外线损伤的DNA能力方面表现出无法解释的损害。