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A Novel Approach to Identification of Somatic Retroelements' Insertions in Human Genome~2

机译:鉴定人类基因组〜2中体细胞后代插入的新方法

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摘要

The activity of retroelements is one of the factors leading to genetic variability of the modern humans. Insertions of retroelements may result in alteration of gene expression and functional diversity between cells. In recent years an increasing amount of data indicating an elevated level of retroelements' mobilisation in some human and animal tissues has been reported. Therefore, the development of a system for the detection of somatic retroposition events is required. Here we describe a novel approach to the wholegenome identification of somatic retroelement insertions in human genome. The developed approach was applied for the comparisons of somatic mosaicism levels in two tissues of the investigated individual. A total of 3410 insertions of retroelements belonging to AluYa5 subfamily were identified.
机译:逆转录元素的活性是导致现代人类遗传变异的因素之一。反义元件的插入可能导致基因表达的改变和细胞之间的功能多样性。近年来,越来越多的数据表明在某些人和动物组织中反元素的动员水平升高。因此,需要开发用于检测体细胞性逆行事件的系统。在这里,我们描述了一种新的方法来对人类基因组中的体细胞逆向插入物进行全基因组鉴定。所开发的方法用于比较被调查个体的两个组织中的体细胞镶嵌水平。总共鉴定出3410个插入的属于AluYa5亚家族的反转录元素。

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