人类基因组中有35%以上的序列为转座子序列.反转录转座子是引起人类疾病的潜在病因.人类基因组中的主导转座子——L1反转录转座子内部有二个开放读框,其编码蛋白具有RNA结合蛋白、反转录酶和内切酶活性.L1可能通过靶引物反转录机制整合到染色体中;Alu等非自主性反转录转座子可能利用L1反转录酶的反式互补作用进行转座.
At least 35% of the human genome is made up of transposon DNA. Retrotransposons are potential causal agents of human disease. The ‘mast’ human mobile element, L1 retrotransposon, has 5′,3′-UTR and two ORFs which encode a sequence-specific RNA-banding protein and a protein containing an endonuclease (EN) domain and a reverse transcriptase (RT) domain. It’s likely that L1 undergoes target-primed reverse transcription in order to carry out retrotransposon. The mobilization of the non-autonomous retrotransposons, such as Alu and processed pseudogens, require a cellular source of reverse transcriptase, which is most likely encoded by L1.
刘新文,童坦君,张宗玉.人类基因组中的反转录转座子[J].生物化学与生物物理进展,2000,27(1):9-12
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