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Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease
Genetics and Molecular Biology ( IF 1.7 ) Pub Date : 2020-01-01 , DOI: 10.1590/1678-4685-gmb-2019-0085
Alexandre Teixeira Vessoni 1 , Camila Chaves Coelho Guerra 2 , Gustavo Satoru Kajitani 2, 3 , Livia Luz Souza Nascimento 3 , Camila Carrião Machado Garcia 2
Affiliation  

Abstract The striking and complex phenotype of Cockayne syndrome (CS) patients combines progeria-like features with developmental deficits. Since the establishment of the in vitro culture of skin fibroblasts derived from patients with CS in the 1970s, significant progress has been made in the understanding of the genetic alterations associated with the disease and their impact on molecular, cellular, and organismal functions. In this review, we provide a historic perspective on the research into CS by revisiting seminal papers in this field. We highlighted the great contributions of several researchers in the last decades, ranging from the cloning and characterization of CS genes to the molecular dissection of their roles in DNA repair, transcription, redox processes and metabolism control. We also provide a detailed description of all pathological mutations in genes ERCC6 and ERCC8 reported to date and their impact on CS-related proteins. Finally, we review the contributions (and limitations) of many genetic animal models to the study of CS and how cutting-edge technologies, such as cell reprogramming and state-of-the-art genome editing, are helping us to address unanswered questions.

中文翻译:

科凯恩综合症:了解多方面疾病的众多挑战和方法

摘要 科凯恩综合征 (CS) 患者的显着而复杂的表型将早衰样特征与发育缺陷结合在一起。自 20 世纪 70 年代建立 CS 患者皮肤成纤维细胞的体外培养以来,在了解与该疾病相关的遗传改变及其对分子、细胞和有机体功能的影响方面取得了重大进展。在这篇综述中,我们通过回顾该领域的开创性论文,为计算机科学的研究提供了历史视角。我们强调了过去几十年来几位研究人员的巨大贡献,从 CS 基因的克隆和表征到它们在 DNA 修复、转录、氧化还原过程和代谢控制中的作用的分子剖析。我们还详细描述了迄今为止报道的 ERCC6 和 ERCC8 基因的所有病理突变及其对 CS 相关蛋白的影响。最后,我们回顾了许多遗传动物模型对 CS 研究的贡献(和局限性),以及细胞重编程和最先进的基因组编辑等尖端技术如何帮助我们解决尚未解答的问题。
更新日期:2020-01-01
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