Shi Xuefei, Nie Fengqi, Wang Zhaoxia, Sun Ming
Department of Respiratory Medicine, Huzhou Central Hospital, Huzhou, China.
Department of Oncology, Second Affiliated Hospital, Nanjing Medical University, Nanjing, 210029, China.
Tumour Biol. 2016 Feb;37(2):1471-8. doi: 10.1007/s13277-015-4482-z. Epub 2015 Dec 10.
Over the past decade, the importance of non-protein-coding functional elements in the human genome has emerged from the water and been identified as a key revelation in post-genomic biology. Since the completion of the ENCODE (Encyclopedia of DNA Elements) and FANTOM (Functional Annotation of Mammals) project, tens of thousands of pseudogenes as well as numerous long non-coding RNA (lncRNA) genes were identified. However, while pseudogenes were initially regarded as non-functional relics littering the human genome during evolution, recent studies have revealed that they play critical roles at multiple levels in diverse physiological and pathological processes, especially in cancer through parental-gene-dependent or parental-gene-independent regulation. Herein, we review the current knowledge of pseudogenes and synthesize the nascent evidence for functional properties and regulatory modalities exerted by pseudogene-transcribed RNAs in human cancers and prospect the potential as molecular signatures in cancer reclassification and tailored therapy.
在过去十年中,人类基因组中非蛋白质编码功能元件的重要性已浮出水面,并被视为后基因组生物学的一项关键发现。自ENCODE(DNA元件百科全书)和FANTOM(哺乳动物功能注释)项目完成以来,已鉴定出数以万计的假基因以及众多长链非编码RNA(lncRNA)基因。然而,虽然假基因最初被视为进化过程中散布在人类基因组中的无功能遗迹,但最近的研究表明,它们在多种生理和病理过程的多个层面发挥着关键作用,尤其是在癌症中,通过依赖亲本基因或不依赖亲本基因的调控。在此,我们综述了目前关于假基因的知识,综合了假基因转录的RNA在人类癌症中发挥功能特性和调控方式的新证据,并展望了其作为癌症重新分类和精准治疗分子标志物的潜力。