长链非编码RNA研究进展

The emerging landscape of long non-coding RNAs

基因组计划研究表明,在组成人类基因组的30亿个碱基对中,仅有1.5%的核酸序列用于蛋白质编码,其余98.5%的基因组为非蛋白质编码序列。这些序列曾被认为是在进化过程中累积的"垃圾序列"而未予以关注,但在随后启动的ENCODE研究计划中却发现,75%的基因组序列能够被转录成RNA,其中近74%的转录产物为非编码RNA(Non-coding RNA,ncRNA)。在非编码RNA中,绝大多数转录本的长度大于200个碱基,这些"长链非编码RNA(Long non-coding RNA,lncRNA)"能够在转录及转录后水平上调节蛋白编码基因的表达,从而广泛地参与包括细胞分化、个体发育在内的重要生命过程,其异常表达还与多种人类重大疾病的发生密切相关。文章综述了长链非编码RNA的发现、分类、表达、作用机制以及其在个体发育和人类疾病中的作用。

With the completion of Human Genome Project （HGP）, it was revealed that among the 3 billion base pairs in human genome, only 1.5% of them encodes proteins. The remaining 98.5% of the sequence does not encode any protein, and was once regarded as accumulated “junk sequences” during evolution. However, in the subsequently initiated ENCODE project, it was unexpectedly found that about 75% of the human genome was transcribed into RNAs. Seventy-four percent of them are non-protein-coding RNAs （non-coding RNAs, ncRNAs）, In this RNA category, most of the transcripts are longer than 200 nucleotides and thus named as “long non-coding RNAs （IncRNAs） ”. ncRNAs regulate gene expression at the transcriptional and post-transcriptional levels, function in fundamental biological processes including cell differentiation and organ development, and are closely associated with many human diseases. In this paper, we review the recent progress in the discovery, classification, expression, and function study of IncRNAs, as well as their roles in the pathogenesis of hu-man diseases.