Division of Genetics and Genomics, The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, UK.
FEBS Lett. 2011 Jun 6;585(11):1589-94. doi: 10.1016/j.febslet.2011.03.061. Epub 2011 Apr 6.
Mobile genetic elements feature prominently in mammalian genome evolution. Several transposition-competent retrotransposon families (L1, Alu, SVA) remain active in the human germ line, leading to pathogenesis as well as genome structural variation across the global population. High-throughput screening approaches have recently been developed to detect retrotransposon insertion polymorphisms. Evidence produced by these and other genome-scale technologies indicates an expanded role for retrotransposition in human biology, including somatic mobilisation in the developing embryo and in neural cells.
移动遗传元件在哺乳动物基因组进化中起着重要作用。几种转座活性的逆转录转座子家族（L1、Alu、SVA）在人类生殖系中仍然活跃，导致发病机制以及全球人群的基因组结构变异。最近已经开发了高通量筛选方法来检测逆转录转座子插入多态性。这些和其他基因组规模技术产生的证据表明，逆转录转座在人类生物学中具有扩展的作用，包括在发育中的胚胎和神经细胞中的体细胞动员。
