Our genome is a historic record of successive invasions of mobile genetic elements. Like other eukaryotes, we have evolved mechanisms to limit their propagation and minimize the functional impact of new insertions. Although these mechanisms are vitally important, they are imperfect, and a handful of retroelement families remain active in modern humans. This review introduces the intrinsic functions of transposons, the tactics employed in their restraint, and the relevance of this conflict to human pathology. The most straightforward examples of disease-causing transposable elements are germline insertions that disrupt a gene and result in a monogenic disease allele. More enigmatic are the abnormal patterns of transposable element expression in disease states. Changes in transposon regulation and cellular responses to their expression have implicated these sequences in diseases as diverse as cancer, autoimmunity, and neurodegeneration. Distinguishing their epiphenomenal from their pathogenic effects may provide wholly new perspectives on our understanding of disease.

中文翻译：

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我们与转座因子的冲突及其对人类疾病的影响。

我们的基因组是移动遗传元素连续入侵的历史记录。像其他真核生物一样，我们已经开发出机制来限制其传播并最大程度地减少新插入物的功能影响。尽管这些机制至关重要，但它们并不完善，并且少数改造家庭在现代人类中仍然活跃。这篇综述介绍了转座子的内在功能，限制其使用的策略以及这种冲突与人类病理学的相关性。引起疾病的转座因子最直接的例子是种系插入，这种插入会破坏基因并导致单基因疾病等位基因。在疾病状态下，转座子表达的异常模式更为神秘。转座子调控的变化和细胞对其表达的反应已将这些序列牵涉到多种疾病中，例如癌症，自身免疫和神经退行性疾病。从其致病作用中区分它们的表观现象可能为我们对疾病的理解提供全新的观点。