Functional impact of the human mobilome.
Functional impact of the human mobilome.
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DOI：
10.1016/j.gde.2013.02.007
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发表时间：
2013-06
影响因子：
4
通讯作者：
Burns, Kathleen H
中科院分区：
文献类型：
--
作者：
Babatz, Timothy D;Burns, Kathleen H
人类基因组充满了源自可移动 DNA 元件传播的散布重复序列。人类逆转录转座子的三个家族至今仍然活跃：LINE1、Alu 和 SVA 元件。自 1988 年以来，在先前识别的疾病基因座上的从头插入已被证明可以在孟德尔疾病中产生高度渗透的等位基因。直到最近，人类群体中种系传播的逆转录转座子插入多态性（RIP）的程度才被充分认识到。同样令人兴奋的是最近对人体组织中体细胞逆转录转座的研究和肿瘤特异性插入的报告，表明在组织异质性和肿瘤发生中的作用。在这里，我们讨论人类疾病中的移动因素，重点关注过去几年令人兴奋的发展。
The human genome is replete with interspersed repetitive sequences derived from the propagation of mobile DNA elements. Three families of human retrotransposons remain active today: LINE1, Alu, and SVA elements. Since 1988, de novo insertions at previously recognized disease loci have been shown to generate highly penetrant alleles in Mendelian disorders. Only recently has the extent of germline-transmitted retrotransposon insertion polymorphism (RIP) in human populations been fully realized. Also exciting are recent studies of somatic retrotransposition in human tissues and reports of tumor-specific insertions, suggesting roles in tissue heterogeneity and tumorigenesis. Here we discuss mobile elements in human disease with an emphasis on exciting developments from the last several years.