Aspden Julie L, Wallace Edward W J, Whiffin Nicola
School of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK.
LeedsOmics, University of Leeds, Leeds LS2 9JT, UK.
Cell Genom. 2023 Apr 12;3(4):100296. doi: 10.1016/j.xgen.2023.100296.
Exons are regions of DNA that are transcribed to RNA and retained after introns are spliced out. However, the term "exon" is often misused as synonymous to "protein coding," including in some literature and textbook definitions. In contrast, only a fraction of exonic sequences are protein coding (<30% in humans). Both exons and introns are also present in untranslated regions (UTRs) and non-coding RNAs. Misuse of the term exon is problematic, for example, "whole-exome sequencing" technology targets <25% of the human exome, primarily regions that are protein coding. Here, we argue for the importance of the original definition of an exon for making functional distinctions in genetics and genomics. Further, we recommend the use of clearer language referring to coding exonic regions and non-coding exonic regions. We propose the use of coding exome sequencing, or CES, to more appropriately describe sequencing approaches that target primarily protein-coding regions rather than all transcribed regions.
外显子是DNA的区域,可被转录为RNA,并在内含子被剪接去除后保留下来。然而,“外显子”一词经常被误用为“蛋白质编码”的同义词,包括在一些文献和教科书的定义中。相比之下,只有一小部分外显子序列是蛋白质编码序列(在人类中不到30%)。外显子和内含子也都存在于非翻译区(UTR)和非编码RNA中。外显子一词的误用存在问题,例如,“全外显子组测序”技术针对的是不到25%的人类外显子组,主要是蛋白质编码区域。在此,我们强调外显子原始定义对于在遗传学和基因组学中进行功能区分的重要性。此外,我们建议使用更清晰的语言来指代编码外显子区域和非编码外显子区域。我们提议使用编码外显子组测序(CES)来更恰当地描述主要针对蛋白质编码区域而非所有转录区域的测序方法。