Department of Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Mob DNA. 2010 Sep 2;1(1):21. doi: 10.1186/1759-8753-1-21.
Transposable elements (TEs) comprise a large fraction of mammalian genomes. A number of these elements are actively jumping in our genomes today. As a consequence, these insertions provide a source of genetic variation and, in rare cases, these events cause mutations that lead to disease. Yet, the extent to which these elements impact their host genomes is not completely understood. This review will summarize our current understanding of the mechanisms underlying transposon regulation and the contribution of TE insertions to genetic diversity in the germline and in somatic cells. Finally, traditional methods and emerging technologies for identifying transposon insertions will be considered.
转座元件 (TEs) 构成了哺乳动物基因组的很大一部分。今天,我们的基因组中有许多这些元件正在活跃地跳跃。因此,这些插入提供了遗传变异的来源,在极少数情况下,这些事件会导致导致疾病的突变。然而,这些元件对其宿主基因组的影响程度尚不完全清楚。这篇综述将总结我们目前对转座子调控机制的理解,以及 TE 插入对生殖细胞和体细胞中遗传多样性的贡献。最后,将考虑识别转座子插入的传统方法和新兴技术。