Department of Chemistry & Biochemistry, Arizona State University, Tempe, AZ 85287-1604, USA.
Mutat Res. 2012 Feb 1;730(1-2):3-11. doi: 10.1016/j.mrfmmm.2011.11.002. Epub 2011 Nov 7.
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.
端粒酶是一种逆转录酶，专门在染色体末端添加端粒 DNA 重复序列。端粒延伸补偿了由于 DNA 聚合酶不能完全复制线性染色体末端而导致的端粒重复序列的丢失。端粒酶作为一种核糖核蛋白发挥作用，除了催化端粒酶逆转录酶 (TERT) 外，还需要一个完整的端粒酶 RNA (TR) 成分。广泛的研究已经确定了 TR 和 TERT 中的许多结构和功能特征，这些特征对于酶的生物发生、定位和调节的各种功能的辅助蛋白也已被确定。了解端粒酶功能的分子机制对于开发治疗端粒介导的疾病和癌症的疗法具有重要意义。在这里，我们回顾了端粒酶的结构和功能特征，以及评估端粒酶功能障碍的技术。
