Roles for retrotransposon insertions in human disease.
Roles for retrotransposon insertions in human disease.
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DOI：
10.1186/s13100-016-0065-9
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发表时间：
2016
期刊：
影响因子：
4.9
通讯作者：
Kazazian HH Jr
中科院分区：
文献类型：
--
作者：
Hancks DC;Kazazian HH Jr
在进化过程中，基因组的动态性质部分由转座因子（TE）如反转录转座子的活性驱动。在较短的时间尺度上，已经确定新的TE插入可以导致个体中的单基因疾病。在人类中，非LTR反转录转座子长插入元件-1（LINE-1或L1）是唯一活跃的自主TE。除了通过“复制-粘贴”机制将其自身的RNA转移到新的基因组位置外，LINE-1还能够逆转录转座其他RNA，包括Alu、SVA，偶尔还包括细胞RNA。迄今为止，在人类中，已报道了124个LINE-1介导的插入导致遗传疾病。引起疾病的LINE-1插入为研究这些基因组寄生虫的有价值的工具提供了丰富的见解和基础。在这篇综述中，我们提供了LINE-1生物学的概述，随后重点介绍了LINE-1介导的人类遗传疾病的新报告。
Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotransposon Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous TE. In addition to mobilizing its own RNA to new genomic locations via a “copy-and-paste” mechanism, LINE-1 is able to retrotranspose other RNAs including Alu, SVA, and occasionally cellular RNAs. To date in humans, 124 LINE-1-mediated insertions which result in genetic diseases have been reported. Disease causing LINE-1 insertions have provided a wealth of insight and the foundation for valuable tools to study these genomic parasites. In this review, we provide an overview of LINE-1 biology followed by highlights from new reports of LINE-1-mediated genetic disease in humans.