Schmitz J
Institute of Experimental Pathology, University of Münster, Münster, Germany.
Genome Dyn. 2012;7:92-107. doi: 10.1159/000337117. Epub 2012 Jun 25.
SINEs are short interspersed elements derived from cellular RNAs that repetitively retropose via RNA intermediates and integrate more or less randomly back into the genome. SINEs propagate almost entirely vertically within their host cells and, once established in the germline, are passed on from generation to generation. As non-autonomous elements, their reverse transcription (from RNA to cDNA) and genomic integration depends on the activity of the enzymatic machinery of autonomous retrotransposons, such as long interspersed elements (LINEs). SINEs are widely distributed in eukaryotes, but are especially effectively propagated in mammalian species. For example, more than a million Alu-SINE copies populate the human genome (approximately 13% of genomic space), and few master copies of them are still active. In the organisms where they occur, SINEs are a challenge to genomic integrity, but in the long term also can serve as beneficial building blocks for evolution, contributing to phenotypic heterogeneity and modifying gene regulatory networks. They substantially expand the genomic space and introduce structural variation to the genome. SINEs have the potential to mutate genes, to alter gene expression, and to generate new parts of genes. A balanced distribution and controlled activity of such properties is crucial to maintaining the organism's dynamic and thriving evolution.
短散在重复序列(SINEs)是源自细胞RNA的短散在元件,它们通过RNA中间体进行重复反转录,并或多或少随机地重新整合到基因组中。SINEs几乎完全在其宿主细胞内垂直传播,一旦在种系中建立,就会代代相传。作为非自主元件,它们的逆转录(从RNA到cDNA)和基因组整合依赖于自主反转录转座子(如长散在重复序列(LINEs))的酶促机制的活性。SINEs广泛分布于真核生物中,但在哺乳动物物种中传播尤为有效。例如,超过一百万个Alu-SINE拷贝存在于人类基因组中(约占基因组空间的13%),其中仍有少数原始拷贝具有活性。在它们出现的生物体中,SINEs对基因组完整性构成挑战,但从长远来看,也可以作为进化的有益组成部分,促进表型异质性并改变基因调控网络。它们极大地扩展了基因组空间,并给基因组引入结构变异。SINEs有可能使基因发生突变、改变基因表达并产生新的基因片段。这种特性的平衡分布和受控活性对于维持生物体动态且蓬勃的进化至关重要。