期刊
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
卷 730, 期 1-2, 页码 12-19出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.mrfmmm.2011.08.011
关键词
Telomere; Telomerase; Shelterin; Replication; CST
资金
- NIH [GM088728, GM041803]
- Ruth L Kirchstein National Research Service [T32 CA117846, F32 GM097833]
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. (C) 2011 Elsevier B.V. All rights reserved.
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