Kumar Anuj
Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI, USA.
Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA.
F1000Res. 2020 Feb 24;9. doi: 10.12688/f1000research.21018.1. eCollection 2020.
Since Barbara McClintock's groundbreaking discovery of mobile DNA sequences some 70 years ago, transposable elements have come to be recognized as important mutagenic agents impacting genome composition, genome evolution, and human health. Transposable elements are a major constituent of prokaryotic and eukaryotic genomes, and the transposition mechanisms enabling transposon proliferation over evolutionary time remain engaging topics for study, suggesting complex interactions with the host, both antagonistic and mutualistic. The impact of transposition is profound, as over 100 human heritable diseases have been attributed to transposon insertions. Transposition can be highly mutagenic, perturbing genome integrity and gene expression in a wide range of organisms. This mutagenic potential has been exploited in the laboratory, where transposons have long been utilized for phenotypic screening and the generation of defined mutant libraries. More recently, barcoding applications and methods for RNA-directed transposition are being used towards new phenotypic screens and studies relevant for gene therapy. Thus, transposable elements are significant in affecting biology both and in the laboratory, and this review will survey advances in understanding the biological role of transposons and relevant laboratory applications of these powerful molecular tools.
大约70年前芭芭拉·麦克林托克开创性地发现了移动DNA序列，自那时起，转座元件已被公认为是影响基因组组成、基因组进化和人类健康的重要诱变剂。转座元件是原核生物和真核生物基因组的主要组成部分，在进化过程中使转座子得以增殖的转座机制仍是引人入胜的研究课题，这表明转座元件与宿主存在复杂的相互作用，既有对抗性的，也有互利共生的。转座的影响是深远的，因为超过100种人类遗传性疾病都归因于转座子插入。转座可能具有高度诱变作用，会扰乱多种生物体的基因组完整性和基因表达。这种诱变潜力已在实验室中得到利用，长期以来转座子一直被用于表型筛选和构建特定的突变体文库。最近，条形码应用和RNA定向转座方法正被用于新的表型筛选以及与基因治疗相关的研究。因此，转座元件在影响生物学以及实验室研究方面都具有重要意义，本综述将概述在理解转座子的生物学作用以及这些强大分子工具的相关实验室应用方面取得的进展。
