期刊
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
卷 730, 期 1-2, 页码 3-11出版社
ELSEVIER
DOI: 10.1016/j.mrfmmm.2011.11.002
关键词
TERT; TR; Dyskerin; Dyskeratosis congenita; Pulmonary fibrosis; Aplastic anemia
资金
- National Science Foundation CAREER [MCB0642857]
Telomerase is a reverse transcriptase specialized in the addition of telomeric DNA repeats onto the ends of chromosomes. Telomere extension offsets the loss of telomeric repeats from the failure of DNA polymerases to fully replicate linear chromosome ends. Telomerase functions as a ribonucleoprotein, requiring an integral telomerase RNA (TR) component, in addition to the catalytic telomerase reverse transcriptase (TERT). Extensive studies have identified numerous structural and functional features within the TR and TERT essential for activity. A number of accessory proteins have also been identified with various functions in enzyme biogenesis, localization, and regulation. Understanding the molecular mechanism of telomerase function has significance for the development of therapies for telomere-mediated disorders and cancer. Here we review telomerase structural and functional features, and the techniques for assessing telomerase dysfunction. (C) 2011 Elsevier B.V. All rights reserved.
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