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Transposable Elements Are a Significant Contributor to Tandem Repeats in the Human Genome

机译：转座因子是人类基因组中串联重复的重要贡献者

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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.
机译：序列重复是人类基因组中的重要现象，通常在基因组改变中具有重要的表型后果。人类基因组中重复元件的两种主要类型是串联重复（TRs），包括微卫星，小卫星以及卫星和转座因子（TE）。到目前为止，对这两种重复类型之间的关系知之甚少。在这项研究中，我们基于序列相似性或重叠的基因组位置确定了从TE衍生的TR。然后，我们分析了这些TR在TE家族/亚家族之间的分布。我们的研究表明，至少7,276 TRs或所有小卫星/卫星中的23％来自TEs，约占人类基因组的0.32％。 TR似乎更可能是由年轻/活跃的TE产生的，一旦启动，它们就会通过重复单元的局部复制随时间而扩展。目前推测的TRs起源机制只能解释所有TE衍生的TRs的6％，表明存在一种或多种尚未确定的引发此类重复的机制。我们的结果表明，TEs不仅通过转座而且通过产生串联重复来促进基因组的扩展和改变。

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