Gilbert Nicolas, Doucet Aurélien J, Bucheton Alain
Institut de Génétique Humaine, UPR 1142, 141, rue de la Cardonille, 34396 Montpellier, cedex 5, France.
J Soc Biol. 2004;198(4):419-24.
LINE-1 (L1) retrotransposon accounts for approximately 17 % of the human genome. Because of the great number of identical copies, L1 can be implicated in genomic rearrangements associated with events of homologous recombination between heterologous sites. Moreover, even if the vast majority of the L1 elements are inactive, some are still able to mobilize themselves by retrotransposition. Thus, L1 is regarded as an insertional mutagenic agent. Moreover, recent works have shown that active retrotransposons were able to mobilize other sequences to generate retro-pseudogenes or to amplify other repeated sequences. Finally, L1 has been associated recently with new genomic rearrangements generated upon insertions such as large genomic deletions. L1 then can be considered as a major factor that has affected and shaped the human genome through several mechanisms.
LINE-1（L1）逆转座子约占人类基因组的17%。由于存在大量相同拷贝，L1可能参与了与异源位点间同源重组事件相关的基因组重排。此外，即便绝大多数L1元件是无活性的，但仍有一些能够通过逆转座进行自我移动。因此，L1被视为一种插入诱变剂。此外，最近的研究表明，活跃的逆转座子能够移动其他序列以产生逆转假基因或扩增其他重复序列。最后，L1最近还与插入时产生的新基因组重排（如大片段基因组缺失）有关。因此，L1可被视为通过多种机制影响和塑造人类基因组的一个主要因素。
