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首页> 外文期刊>Philosophical Transactions of the Royal Society of London, Series B. Biological Sciences >Contribution of unfixed transposable element insertions to human regulatory variation
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Contribution of unfixed transposable element insertions to human regulatory variation

机译：未固定的转换元素插入对人类监管变异的贡献

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摘要

Thousands of unfixed transposable element (TE) insertions segregate in the human population, but little is known about their impact on genome function. Recently, a few studies associated unfixed TE insertions to mRNA levels of adjacent genes, but the biological significance of these associations, their replicability across cell types and the mechanisms by which they may regulate genes remain largely unknown. Here, we performed a TE-expression QTL analysis of 444 lymphoblastoid cell lines (LCL) and 289 induced pluripotent stem cells using a newly developed set of genotypes for 2743 polymorphic TE insertions. We identified 211 and 176 TE-eQTL acting in cis in each respective cell type. Approximately 18% were shared across cell types with strongly correlated effects. Furthermore, analysis of chromatin accessibility QTL in a subset of the LCL suggests that unfixed TEs often modulate the activity of enhancers and other distal regulatory DNA elements, which tend to lose accessibility when a TE inserts within them. We also document a case of an unfixed TE likely influencing gene expression at the post-transcriptional level. Our study points to broad and diverse cis-regulatory effects of unfixed TEs in the human population and underscores their plausible contribution to phenotypic variation.
机译：成千上万的未固定的转移元素（TE）插入在人口中分离，但对它们对基因组功能的影响很少。最近，一些研究相关联的TE插入邻近基因的mRNA水平，但这些关联的生物学意义，它们穿越细胞类型的可重复性以及它们可以调节基因的机制仍然很大程度上是未知的。在这里，我们使用新开发的基因型组进行了444个淋巴细胞细胞系（LCl）和289个诱导多能干细胞的Te-Expression QTL分析。我们确定了在每个相应细胞类型中的CIS中的211和176 TE-EQTL。大约18％的细胞类型共享，效果强烈。此外，LCL子集中的染色质可访问性QTL的分析表明，未固定的TES经常调节增强剂和其他远端调节DNA元件的活性，这往往会在其内插入时失去可访问性。我们还记录了可​​能影响后转录水平的未固定TE的情况。我们的研究指出了人群未固定的TES的广泛和多样化的CIS-SCOUNT，并强调了它们对表型变异的合理贡献。

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