Dridi Sami
Nutrition Research Institute, The University of North Carolina at Chapel Hill, 500 Laureate Way, Kannapolis, NC 28081, USA.
Scientifica (Cairo). 2012;2012:545328. doi: 10.6064/2012/545328. Epub 2012 Dec 16.
Alus, the short interspersed repeated sequences (SINEs), are retrotransposons that litter the human genomes and have long been considered junk DNA. However, recent findings that these mobile elements are transcribed, both as distinct RNA polymerase III transcripts and as a part of RNA polymerase II transcripts, suggest biological functions and refute the notion that Alus are biologically unimportant. Indeed, Alu RNAs have been shown to control mRNA processing at several levels, to have complex regulatory functions such as transcriptional repression and modulating alternative splicing and to cause a host of human genetic diseases. Alu RNAs embedded in Pol II transcripts can promote evolution and proteome diversity, which further indicates that these mobile retroelements are in fact genomic gems rather than genomic junks.
Alu元件,即短散在重复序列(SINEs),是散布在人类基因组中的逆转座子,长期以来一直被视为垃圾DNA。然而,最近的研究发现,这些移动元件可以被转录,既可以作为不同的RNA聚合酶III转录本,也可以作为RNA聚合酶II转录本的一部分,这表明它们具有生物学功能,反驳了Alu元件在生物学上不重要的观点。事实上,Alu RNA已被证明在多个水平上控制mRNA加工,具有复杂的调控功能,如转录抑制和调节可变剪接,并导致许多人类遗传疾病。嵌入在Pol II转录本中的Alu RNA可以促进进化和蛋白质组多样性,这进一步表明这些移动的逆转座元件实际上是基因组瑰宝而非基因组垃圾。