Centre for Genomic Regulation and UPF, Doctor Aiguader 88, Barcelona 08003, Catalonia, Spain.
Nature. 2012 Sep 6;489(7414):101-8. doi: 10.1038/nature11233.
Eukaryotic cells make many types of primary and processed RNAs that are found either in specific subcellular compartments or throughout the cells. A complete catalogue of these RNAs is not yet available and their characteristic subcellular localizations are also poorly understood. Because RNA represents the direct output of the genetic information encoded by genomes and a significant proportion of a cell's regulatory capabilities are focused on its synthesis, processing, transport, modification and translation, the generation of such a catalogue is crucial for understanding genome function. Here we report evidence that three-quarters of the human genome is capable of being transcribed, as well as observations about the range and levels of expression, localization, processing fates, regulatory regions and modifications of almost all currently annotated and thousands of previously unannotated RNAs. These observations, taken together, prompt a redefinition of the concept of a gene.
真核细胞产生许多类型的初级和加工 RNA,这些 RNA 存在于特定的亚细胞区室或整个细胞中。这些 RNA 的完整目录尚未可知,其特征性的亚细胞定位也知之甚少。由于 RNA 代表了基因组编码的遗传信息的直接输出,并且细胞的大部分调控能力都集中在其合成、加工、运输、修饰和翻译上,因此生成这样一个目录对于理解基因组功能至关重要。在这里,我们报告了三分之二的人类基因组能够被转录的证据,以及关于当前注释的几乎所有和数千个以前未注释的 RNA 的表达范围和水平、定位、加工命运、调控区域和修饰的观察结果。这些观察结果一起促使对基因概念的重新定义。