Ayarpadikannan Selvam, Lee Hee-Eun, Han Kyudong, Kim Heui-Soo
Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 609-735, Republic of Korea.
Department of Nanobiomedical Science, WCU Research Center, Dankook University, Cheonan 330-714, Republic of Korea.
Gene. 2015 Mar 10;558(2):187-94. doi: 10.1016/j.gene.2015.01.039. Epub 2015 Jan 21.
The human genome project and subsequent gene annotation projects have shown that the human genome contains 22,000-25,000 functional genes. Therefore, it is believed that the diversity of protein repertoire is achieved by the alternative splicing (AS) mechanism. Transposable elements (TEs) are mobile in nature and can therefore alter their position in the genome. The insertion of TEs into a new gene region can result in AS of a particular transcript through various mechanisms, including intron retention, and alternative donor or acceptor splice sites. TE-derived AS is thought to have played a part in primate evolution and in hominid radiation. However, TE-derived AS or genetic instability may sometimes result in genetic disorders. For the past two decades, numerous studies have been performed on TEs and their role in genomes. Accumulating evidence shows that the term 'junk DNA', previously used for TEs is a misnomer. Recent research has indicated that TEs may have clinical potential. However, to explore the feasibility of using TEs in clinical practice, additional studies are required. This review summarizes the available literature on TE-derived AS, alternative promoter, and alternative polyadenylation. The review covers the effects of TEs on coding genes and their clinical implications, and provides our perspectives and directions for future research.
人类基因组计划及后续的基因注释项目表明，人类基因组包含22000 - 25000个功能基因。因此，人们认为蛋白质组的多样性是通过可变剪接（AS）机制实现的。转座元件（TEs）本质上具有移动性，因此能够改变它们在基因组中的位置。TEs插入新的基因区域可通过多种机制导致特定转录本的可变剪接，包括内含子保留以及可变供体或受体剪接位点。源自TEs的可变剪接被认为在灵长类进化和人类辐射中发挥了作用。然而，源自TEs的可变剪接或遗传不稳定性有时可能导致遗传疾病。在过去二十年中，针对TEs及其在基因组中的作用开展了大量研究。越来越多的证据表明，以前用于指代TEs的“垃圾DNA”这一术语是用词不当。最近的研究表明，TEs可能具有临床应用潜力。然而，要探索在临床实践中使用TEs的可行性，还需要进行更多研究。本综述总结了关于源自TEs的可变剪接、可变启动子和可变聚腺苷酸化的现有文献。该综述涵盖了TEs对编码基因的影响及其临床意义，并提供了我们对未来研究的观点和方向。
