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Mutat Res. 2012 Feb 1;730(1-2):12-9. doi: 10.1016/j.mrfmmm.2011.08.011. Epub 2011 Sep 17.

Maintaining the end: roles of telomere proteins in end-protection, telomere replication and length regulation.

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Department of Cancer and Cell Biology, University of Cincinnati, Cincinnati, OH 45267-0521, USA.


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.

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