Rahmutulla Bahityar, Matsushita Kazuyuki, Nomura Fumio
Bahityar Rahmutulla, Kazuyuki Matsushita, Fumio Nomura, Department of Molecular Diagnosis, Graduate School of Medicine, Chiba University, Chiba 260-8670, Japan.
World J Gastroenterol. 2014 Dec 14;20(46):17305-13. doi: 10.3748/wjg.v20.i46.17305.
Alternative splicing, which is a common phenomenon in mammalian genomes, is a fundamental process of gene regulation and contributes to great protein diversity. Alternative splicing events not only occur in the normal gene regulation process but are also closely related to certain diseases including cancer. In this review, we briefly demonstrate the concept of alternative splicing and DNA damage and describe the association of alternative splicing and cancer pathogenesis, focusing on the potential relationship of alternative splicing, DNA damage, and gastrointestinal cancers. We will also discuss whether alternative splicing leads to genetic instability, which is considered to be a driving force for tumorigenesis. Better understanding of the role and mechanism of alternative splicing in tumorigenesis may provide new directions for future cancer studies.
可变剪接是哺乳动物基因组中的常见现象，是基因调控的基本过程，有助于产生丰富的蛋白质多样性。可变剪接事件不仅发生在正常的基因调控过程中，还与包括癌症在内的某些疾病密切相关。在本综述中，我们简要阐述了可变剪接和DNA损伤的概念，并描述了可变剪接与癌症发病机制的关联，重点关注可变剪接、DNA损伤与胃肠道癌症之间的潜在关系。我们还将讨论可变剪接是否会导致遗传不稳定，而遗传不稳定被认为是肿瘤发生的驱动力。更好地理解可变剪接在肿瘤发生中的作用和机制可能为未来的癌症研究提供新的方向。
