Impact of Mobile Element Insertions on Human Transcriptome Variation

Mobile DNA elements are ubiquitous in nearly all species and mobile element insertions can affect nearby gene expression through many mechanisms, from disrupting coding regions to initiating DNA methylation to altering RNA splicing patterns. Thousands of mobile element insertions are still polymorphic in human populations, and these polymorphic mobile element insertions (pMEIs) can contribute to transcriptome and phenotypic variation in humans. We identified and genotyped pMEIs using the whole genome sequencing (WGS) data from the Genotype-Tissue Expression (GTEx) project. We then used the extensive multi-tissue transcriptome data from the GTEx project to systematically assess the effects of pMEIs on human transcriptome variation. ]]> The subjects were collected by the GTEx project (phs000424.v8.p2).]]>移动DNA元件（mobile DNA elements）在几乎所有物种中均普遍存在，移动元件插入可通过多种机制影响邻近基因的表达——从破坏编码区域、启动DNA甲基化，到改变RNA剪接模式。目前人类群体中仍存在数千种多态性移动元件插入（polymorphic mobile element insertions，pMEIs），这类多态性移动元件插入（pMEIs）可参与人类转录组与表型变异的形成。本研究借助基因型-组织表达（Genotype-Tissue Expression，GTEx）项目的全基因组测序（whole genome sequencing，WGS）数据，完成了pMEIs的鉴定与基因分型工作。随后，本研究利用GTEx项目提供的大规模多组织转录组数据，系统评估了pMEIs对人类转录组变异的影响。本研究的受试样本由GTEx项目（phs000424.v8.p2）收集获得。