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Shelterin complex in telomere protection: recent insights and pathological significance

机译：端粒保护中的Shelterin复合物：最新发现和病理意义

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Abstract: Telomeres are essential for chromosome integrity and stability. The telomerase complex is the reverse transcriptase required for the addition of telomeric repeats at chromosome ends and is essential for their maintenance. The enzyme is expressed in over 80% of tumors and, indeed, telomerase is one of the genetic elements required for cellular transformation. In addition, telomeres recruit complexes called shelterin and the CTC1-STN1-TEN1 (CST) complex, which exhibit a high degree of conservation from yeast to mammals. These telomere-associated proteins mediate the roles of telomeres important for chromosome end protection and replication. Recently, some of the known shelterin components and associated telomeric factors have been described as cancer susceptibility genes. Furthermore, following extensive biochemical and genetic dissection of telomere function in a great number of model systems, the past decade has seen great progress in linking specific mutations in telomere-associated proteins with pathologies referred to as “telomeropathies”. These include the dyskeratosis congenita, Hoyeraal–Hreidarsson, and Coats’ plus syndromes, which result from defects in telomere maintenance and protection. We review here the observations and known molecular determinants linking telomere dysfunction to cancer or telomeropathy.
机译：摘要：端粒对于染色体的完整性和稳定性至关重要。端粒酶复合物是在染色体末端添加端粒重复序列所需的逆转录酶，并且对它们的维持至关重要。该酶在超过80％的肿瘤中表达，确实，端粒酶是细胞转化所需的遗传因子之一。此外，端粒募集复合物，称为遮蔽蛋白和CTC1-STN1-TEN1（CST）复合物，从酵母到哺乳动物都具有高度的保守性。这些端粒相关蛋白介导对染色体末端保护和复制很重要的端粒的作用。最近，一些已知的庇护蛋白成分和相关的端粒因子已被描述为癌症易感基因。此外，继在大量模型系统中对端粒功能进行广泛的生化和遗传解剖后，过去十年间，在将端粒相关蛋白的特定突变与称为“端粒病”的病理学联系起来方面取得了长足进展。其中包括先天性角化不全，Hoyeraal-Hreidarsson和高士氏综合症，这是由于端粒维持和保护方面的缺陷造成的。我们在这里回顾将端粒功能障碍与癌症或端粒病联系起来的观察结果和已知的分子决定因素。

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