Chenais Benoit
Mer Molecules Sante, UFR Sciences et Techniques, Universite du Maine, Avenue Olivier Messiaen, F-72085 Le Mans Cedex, France.
Curr Cancer Drug Targets. 2015;15(3):227-42. doi: 10.2174/1568009615666150317122506.
Transposable elements (TEs) are mobile DNA sequences representing a substantial fraction of most genomes. Through the creation of new genes and functions, TEs are important elements of genome plasticity and evolution. However TE insertion in human genomes may be the cause of genetic dysfunction and alteration of gene expression contributing to cancer and other human diseases. Besides the chromosome rearrangements induced by TE repeats, this mini-review shows how gene expression may be altered following TE insertion, for example by the creation of new polyadenylation sites, by the creation of new exons (exonization), by exon skipping and by other modification of alternative splicing, and also by the alteration of regulatory sequences. Through the correlation between TE mobility and the methylation status of DNA, the importance of chromatin regulation is evident in several diseases. Finally this overview ends with a brief presentation of the use of TEs as biotechnology tools for insertional mutagenesis screening and gene therapy with DNA transposons.
转座元件（TEs）是可移动的DNA序列，在大多数基因组中占相当大的比例。通过创造新的基因和功能，转座元件是基因组可塑性和进化的重要元素。然而，转座元件插入人类基因组可能是导致基因功能障碍和基因表达改变的原因，进而引发癌症和其他人类疾病。除了由转座元件重复序列引起的染色体重排外，本综述还展示了转座元件插入后基因表达可能如何改变，例如通过创造新的聚腺苷酸化位点、通过创造新的外显子（外显子化）、通过外显子跳跃以及通过可变剪接的其他修饰，还通过调控序列的改变。通过转座元件移动性与DNA甲基化状态之间的相关性，染色质调控在几种疾病中的重要性显而易见。最后，本综述以简要介绍转座元件作为生物技术工具在插入诱变筛选和DNA转座子基因治疗中的应用作为结尾。
