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转座元件是人类基因组串联重复序列的重要贡献者。

Transposable elements are a significant contributor to tandem repeats in the human genome.

作者信息

Ahmed Musaddeque, Liang Ping

机构信息

Department of Biological Sciences, Brock University, St. Catharines, ON, Canada L2S 3A1.

出版信息

Comp Funct Genomics. 2012;2012:947089. doi: 10.1155/2012/947089. Epub 2012 Jun 24.

Abstract

Sequence repeats are an important phenomenon in the human genome, playing important roles in genomic alteration often with phenotypic consequences. The two major types of repeat elements in the human genome are tandem repeats (TRs) including microsatellites, minisatellites, and satellites and transposable elements (TEs). So far, very little has been known about the relationship between these two types of repeats. In this study, we identified TRs that are derived from TEs either based on sequence similarity or overlapping genomic positions. We then analyzed the distribution of these TRs among TE families/subfamilies. Our study shows that at least 7,276 TRs or 23% of all minisatellites/satellites is derived from TEs, contributing ∼0.32% of the human genome. TRs seem to be generated more likely from younger/more active TEs, and once initiated they are expanded with time via local duplication of the repeat units. The currently postulated mechanisms for origin of TRs can explain only 6% of all TE-derived TRs, indicating the presence of one or more yet to be identified mechanisms for the initiation of such repeats. Our result suggests that TEs are contributing to genome expansion and alteration not only by transposition but also by generating tandem repeats.

摘要

序列重复是人类基因组中的一种重要现象,在基因组改变中发挥着重要作用,常常伴有表型后果。人类基因组中的两种主要重复元件类型是串联重复序列(TRs),包括微卫星、小卫星和卫星,以及转座元件(TEs)。到目前为止,对于这两种重复类型之间的关系了解甚少。在本研究中,我们基于序列相似性或重叠的基因组位置,鉴定了源自TEs的TRs。然后,我们分析了这些TRs在TE家族/亚家族中的分布。我们的研究表明,至少7276个TRs或所有小卫星/卫星的23%源自TEs,占人类基因组的约0.32%。TRs似乎更有可能由较年轻/更活跃的TEs产生,并且一旦启动,它们会随着时间通过重复单元的局部复制而扩展。目前假定的TRs起源机制仅能解释所有源自TEs的TRs的6%,这表明存在一种或多种尚未确定的此类重复起始机制。我们的结果表明,TEs不仅通过转座,还通过产生串联重复序列,对基因组的扩展和改变做出贡献。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ecd1/3389668/939856747a8f/CFG2012-947089.001.jpg

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