Ancient transposable elements, processed pseudogenes, and endogenous retroviruses
Ancient transposable elements, processed pseudogenes, and endogenous retroviruses
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DOI：
10.1007/978-1-59745-039-3_4
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发表时间：
2006-01-01
期刊：
影响因子：
--
通讯作者：
Jurka, Jerzy
中科院分区：
文献类型：
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作者：
Pavlicek, Adam;Jurka, Jerzy
人类基因组包含大量源自转座元件（TE）的重复元件。除了活性 Alu 和长散布元件（LINE 或 L1）散布重复序列外，人类基因组还包含大量古代 TE。其中包括 DNA 转座子的化石种系插入、化石短散布元件 (SINE)、L2 和 L3 LINE。经过加工的假基因和人类内源性逆转录病毒（HERV）在进化史上最近得到了扩增，其中一些仍然保存完好。一些最近灭绝的 TE 的副本继续通过同源重组促进基因组重排。在本章中，我们回顾了古代的 SINE 和 LINE 重复序列、加工后的假基因、HERV 和 DNA 转座子。我们简要介绍了这些元件的基因组结构和复制策略、它们的表达能力，并重点关注这些重复对人类疾病的贡献。我们还讨论了一些 TE 衍生的基因和调控元件。
The human genome contains a large number of repetitive elements derived from transposable elements (TEs). In addition to active Alu and long interspersed element (LINE or L1) interspersed repeats, the human genome comprises a large number of ancient TEs. These include fossil germ-line insertions of DNA transposons, fossil short interspersed elements (SINEs), L2, and L3 LINEs. Processed pseudogenes and human endogenous retroviruses (HERVs) have amplified more recently in evolutionary history and some of them are still well preserved. Copies of some of the recently extinct TEs continue to contribute to genomic rearrangements by homologous recombination. In this chapter, we review ancient SINE and LINE repeats, processed pseudogenes, HERVs, and DNA transposons. We briefly introduce the genomic structure and replication strategy of these elements, their expression competence, and focus on the contribution of these repeats to human diseases. We also discuss some of the TE-derived genes and regulatory elements.