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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。
Retrotransposon is a movable element that transposes RNA into RNA and then transcribes it into DNA. It can be copied from one site in the genome and inserted into other sites of the genome to integrate into the genome. Retrotransposons are abundant in the human genome, accounting for about 45% of the total genomes. They can affect the local genome stability through insertion, deletion, recombination and transduction mechanisms, and can even cause genomic rearrangements that affect genome stability and disease produce. This article reviews the characteristics of transposable elements and their impact on genome stability.