维持端粒：端粒蛋白在端粒保护、端粒复制和长度调节中的作用。
Maintaining the end: roles of telomere proteins in end-protection, telomere replication and length regulation.
机构信息
Department of Cancer and Cell Biology, University of Cincinnati, Cincinnati, OH 45267-0521, USA.
出版信息
Mutat Res. 2012 Feb 1;730(1-2):12-9. doi: 10.1016/j.mrfmmm.2011.08.011. Epub 2011 Sep 17.
Abstract
Chromosome end protection is essential to protect genome integrity. Telomeres, tracts of repetitive DNA sequence and associated proteins located at the chromosomal terminus, serve to safeguard the ends from degradation and unwanted double strand break repair. Due to the essential nature of telomeres in protecting the genome, a number of unique proteins have evolved to ensure that telomere length and structure are preserved. The inability to properly maintain telomeres can lead to diseases such as dyskeratosis congenita, pulmonary fibrosis and cancer. In this review, we will discuss the known functions of mammalian telomere-associated proteins, their role in telomere replication and length regulation and how these processes relate to genome instability and human disease.
摘要
染色体末端保护对于保护基因组完整性至关重要。端粒是位于染色体末端的重复 DNA 序列和相关蛋白的结构，可防止末端降解和不受控制的双链断裂修复。由于端粒在保护基因组方面的重要性，已经进化出许多独特的蛋白质来确保端粒的长度和结构得以维持。如果不能正确维持端粒，可能会导致先天性角化不良、肺纤维化和癌症等疾病。在这篇综述中，我们将讨论已知的哺乳动物端粒相关蛋白的功能，它们在端粒复制和长度调节中的作用，以及这些过程与基因组不稳定性和人类疾病的关系。
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1
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Mutat Res. 2012 Feb 1;730(1-2):3-11. doi: 10.1016/j.mrfmmm.2011.11.002. Epub 2011 Nov 7.
2
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Mutat Res. 2012 Feb 1;730(1-2):20-7. doi: 10.1016/j.mrfmmm.2011.10.003. Epub 2011 Oct 18.
3
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4
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5
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6
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7
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8
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