Validating Gene Fusion as the Source of Chimeric RNAs.
Validating Gene Fusion as the Source of Chimeric RNAs.
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验证基因融合作为嵌合 RNA 的来源。
DOI：
10.1007/978-1-4939-9904-0_15
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发表时间：
2020
期刊：
影响因子：
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通讯作者：
Yen,Laising
中科院分区：
文献类型：
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作者：
Gupta,SachinKumar;Jea,JocelynDuen-Ya;Yen,Laising
虽然嵌合RNA可能是通过转录介导的机制产生的，例如“反式剪接”和“通读/剪接”(Zhang等人，Cancer Discov 2：598-607,2012；Zaphiropoulos，Front Genet 2：92,2011；Li等人，Cell Cycle 8：218-222,2009；Jividen和Li，基因染色体癌症53：963-971,2014；贾等人，Trends Cancer 2：475-484,2016)，但到目前为止发现的大多数高表达的嵌合RNA物种通常是直接从融合基因转录而来的。融合基因是由两个亲本基因通过染色体重排而形成的，是许多类型癌症的特征。可以采用各种方法来确认特定的融合基因是转录的嵌合RNA的原始来源。在这一章中，我们讨论了常用的方法，如基因组DNA断裂点作图和荧光原位杂交，用于确认基因融合事件。此外，我们强调了新技术的发展，例如适用于基因组排列的全球分析的从头开始的全基因组光学作图。文中介绍并比较了每种技术的优缺点。
While chimeric RNAs may be generated by transcription-mediated mechanisms such as “trans-splicing” and “read-through/splicing” (Zhang et al., Cancer Discov 2:598–607, 2012; Zaphiropoulos, Front Genet 2:92, 2011; Li et al., Cell Cycle 8:218–222, 2009; Jividen and Li, Genes Chromosomes Cancer 53:963–971, 2014; Jia et al., Trends Cancer 2:475–484, 2016), most highly expressed chimeric RNA species identified so far are usually transcribed directly from fusion genes. Fusion genes, formed by joining two parental genes as a result of chromosomal rearrangements, are hallmarks of many types of cancer. Various methods can be deployed for confirming a particular fusion gene as the original source of transcribed chimeric RNA. In this chapter, we discuss commonly used methodologies such as genomic DNA breakpoint mapping and fluorescent in situ hybridization useful for confirming gene fusion events. In addition, we highlight the development of new technologies such as de novo whole-genome optical mapping suitable for global analysis of genomic arrangements. The advantages and disadvantages of each of these technologies are presented and compared.