反转座子对人类基因组稳定性的影响

The impact of retrotransposons on human genomic stability

反转座子(retrotransposon)是通过RNA为中介反转录成DNA后进行转座的可动元件,可由基因组中一个位点进行复制,插入到基因组其它位点从而整合到基因组中。反转座子在人类基因组中含量丰富,约占45%,可以通过插入、缺失、重组、转导等机制影响局部基因组稳定性,甚至可以引起基因组重排,从而影响基因组稳定性,导致疾病的产生。本文就转座元件的特性及其对基因组稳定性的影响作一综述。

Retrotransposons are a kind of mobilizable elements, which are copied into RNA and then reverse transcripted into DNA. They were copied in a location and inserted into the genome at a new loetion. Retrotransposons constitute -45% of the human genome, and generate local genomic instability and genomie rearrangements by mechanisms such as insertion, deletion, recombination and transduction etc. Thus they can affect genome stability and cause disease produces. The authors provided a review of the Retrotransposons ＇ characteristics and their effects on the stability of the genome.