Lachapelle Sophie, Oesterreich Steffi, Lebel Michel
Centre de Recherche en Cancérologie de l'Université Laval, Hôpital Hôtel‐Dieu de Québec, Québec City, Canada.
Aging (Albany NY). 2011 Mar;3(3):277-90. doi: 10.18632/aging.100300.
Werner syndrome (WS) is a rare disorder characterized by the premature onset of several pathologies associated with aging. The gene responsible for WS codes for a RecQ-type DNA helicase and is believed to be involved in different aspects of DNA repair, replication, and transcription. We recently identified the Scaffold attachment factor B1 (SAFB1) as a potential interactants in human cells. SAFB1 is a multifunctional protein that binds both nucleic acids and is involved in the attachment of chromatin to the nuclear matrix, transcription, and stress response. Mice lacking SAFB1 exhibit developmental abnormalities in their lungs, high incidence of perinatal lethality, and adults develop different types of tumors. Mouse embryonic fibroblasts from Safb1-null animals are immortalized in culture. In this study, mice with a mutation in the helicase domain of the Wrn gene were crossed to Safb1-null mice. Double homozygous mutant mice exhibited increased apoptosis, a lower cell proliferation rate in their lungs and a higher incidence of perinatal death compared to Safb1-null mice. Few double homozygous mutants survived weaning and died before the age of six months. Finally, mouse embryonic fibroblasts lacking a functional Wrn helicase inhibited the immortalization of Safb1-null cells. These results indicate that an intact Wrn protein is required for immortalization and tumorigenesis in Safb1-null mice.
沃纳综合征(WS)是一种罕见的疾病,其特征是与衰老相关的多种病理状况过早出现。导致WS的基因编码一种RecQ型DNA解旋酶,据信该基因参与DNA修复、复制和转录的不同方面。我们最近确定支架附着因子B1(SAFB1)是人类细胞中的一种潜在相互作用蛋白。SAFB1是一种多功能蛋白,既能结合核酸,又参与染色质与核基质的附着、转录和应激反应。缺乏SAFB1的小鼠肺部出现发育异常,围产期致死率高,成年后会发生不同类型的肿瘤。来自Safb1基因敲除动物的小鼠胚胎成纤维细胞在培养中可永生化。在本研究中,将Wrn基因解旋酶结构域发生突变的小鼠与Safb1基因敲除小鼠杂交。与Safb1基因敲除小鼠相比,双纯合突变小鼠表现出凋亡增加、肺部细胞增殖率降低以及围产期死亡发生率更高。很少有双纯合突变体存活至断奶,并且在六个月龄前死亡。最后,缺乏功能性Wrn解旋酶的小鼠胚胎成纤维细胞抑制了Safb1基因敲除细胞的永生化。这些结果表明,完整的Wrn蛋白是Safb1基因敲除小鼠永生化和肿瘤发生所必需的。