Genome Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany.
Nature. 2013 May 2;497(7447):127-31. doi: 10.1038/nature12121. Epub 2013 Apr 24.
Transcript function is determined by sequence elements arranged on an individual RNA molecule. Variation in transcripts can affect messenger RNA stability, localization and translation, or produce truncated proteins that differ in localization or function. Given the existence of overlapping, variable transcript isoforms, determining the functional impact of the transcriptome requires identification of full-length transcripts, rather than just the genomic regions that are transcribed. Here, by jointly determining both transcript ends for millions of RNA molecules, we reveal an extensive layer of isoform diversity previously hidden among overlapping RNA molecules. Variation in transcript boundaries seems to be the rule rather than the exception, even within a single population of yeast cells. Over 26 major transcript isoforms per protein-coding gene were expressed in yeast. Hundreds of short coding RNAs and truncated versions of proteins are concomitantly encoded by alternative transcript isoforms, increasing protein diversity. In addition, approximately 70% of genes express alternative isoforms that vary in post-transcriptional regulatory elements, and tandem genes frequently produce overlapping or even bicistronic transcripts. This extensive transcript diversity is generated by a relatively simple eukaryotic genome with limited splicing, and within a genetically homogeneous population of cells. Our findings have implications for genome compaction, evolution and phenotypic diversity between single cells. These data also indicate that isoform diversity as well as RNA abundance should be considered when assessing the functional repertoire of genomes.
转录本的功能由单个 RNA 分子上排列的序列元件决定。转录本的变异会影响信使 RNA 的稳定性、定位和翻译,或者产生在定位或功能上不同的截断蛋白。鉴于重叠的、可变的转录本异构体的存在,确定转录组的功能影响需要鉴定全长转录本,而不仅仅是转录的基因组区域。在这里,通过共同确定数百万个 RNA 分子的转录本两端,我们揭示了以前隐藏在重叠 RNA 分子中的大量异构体多样性。转录本边界的变异似乎是规则而不是例外,即使在单个酵母细胞群体中也是如此。每个蛋白质编码基因都有超过 26 种主要的转录本异构体表达。数百种短编码 RNA 和蛋白质的截断版本被不同的转录本异构体同时编码,增加了蛋白质的多样性。此外,大约 70%的基因表达的转录本异构体在转录后调控元件上有所不同,串联基因通常产生重叠甚至双顺反子转录本。这种广泛的转录本多样性是由具有有限剪接的相对简单的真核基因组产生的,并且存在于遗传上同质的细胞群体中。我们的发现对基因组的紧凑性、进化和单细胞之间的表型多样性具有影响。这些数据还表明,在评估基因组的功能谱时,应该考虑异构体多样性以及 RNA 丰度。