Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
J Cell Mol Med. 2011 Mar;15(3):457-67. doi: 10.1111/j.1582-4934.2011.01276.x.
Telomerase is a specialized reverse transcriptase that extends and maintains the terminal ends of chromosomes, or telomeres. Since its discovery in 1985 by Nobel Laureates Elizabeth Blackburn and Carol Greider, thousands of articles have emerged detailing its significance in telomere function and cell survival. This review provides a current assessment on the importance of telomerase regulation and relates it in terms of medical genetics. In this review, we discuss the recent findings on telomerase regulation, focusing on epigenetics and non-coding RNAs regulation of telomerase, such as microRNAs and the recently discovered telomeric-repeat containing RNA transcripts. Human genetic disorders that develop due to mutations in telomerase subunits, the role of single nucleotide polymorphisms in genes encoding telomerase components and diseases as a result of telomerase regulation going awry are also discussed. Continual investigation of the complex regulation of telomerase will further our insight into the use of controlling telomerase activity in medicine.
端粒酶是一种特殊的逆转录酶，可延长和维持染色体或端粒的末端。自 1985 年诺贝尔获奖者伊丽莎白·布莱克本和卡罗尔·格雷德发现以来，已有数千篇文章详细阐述了端粒酶在端粒功能和细胞存活中的重要性。这篇综述对端粒酶调控的重要性进行了评估，并从医学遗传学的角度进行了论述。在这篇综述中，我们讨论了端粒酶调控的最新发现，重点讨论了端粒酶的表观遗传学和非编码 RNA 调控，如 microRNAs 和最近发现的端粒重复 RNA 转录本。还讨论了由于端粒酶亚基突变而导致的人类遗传疾病、编码端粒酶成分的基因中单核苷酸多态性的作用以及由于端粒酶调控失常而导致的疾病。对端粒酶复杂调控的不断研究将进一步加深我们对控制端粒酶活性在医学中的应用的认识。
