PDF(Pubmed)
Abstract：
Three mobile element classes, namely Alu, LINE-1 (L1), and SVA elements, remain actively mobile in human genomes and continue to produce new mobile element insertions (MEIs). Historically, MEIs have been discovered and studied using several methods, including: (1) Southern blots, (2) PCR (including PCR display), and (3) the detection of MEI copies from young subfamilies. We are now entering a new phase of MEI discovery where these methods are being replaced by whole genome sequencing and bioinformatics analysis to discover novel MEIs. We expect that the universe of sequenced human genomes will continue to expand rapidly over the next several years, both with short-read and long-read technologies. These resources will provide unprecedented opportunities to discover MEIs and study their impact on human traits and diseases. They also will allow the MEI community to discover and study the source elements that produce these new MEIs, which will facilitate our ability to study source element regulation in various tissue contexts and disease states. This, in turn, will allow us to better understand MEI mutagenesis in humans and the impact of this mutagenesis on human biology.
摘要：
三个移动元素类，即Alu,LINE-1(L1),和SVA元素，在人类基因组中保持主动移动，并继续产生新的移动元素插入（MEI）。历史上,已经使用几种方法发现和研究了MEIs，包括：（1）南方印迹，（2）PCR（包括PCR显示），和（3）检测来自年轻亚家族的MEI副本。我们现在正在进入MEI发现的新阶段，这些方法正在被全基因组测序和生物信息学分析所取代，以发现新的MEI。我们预计，人类基因组测序的宇宙将在未来几年继续迅速扩大，使用短读和长读技术。这些资源将提供前所未有的机会来发现MEIs并研究其对人类特征和疾病的影响。他们还将允许MEI社区发现和研究产生这些新MEI的源元素，这将有助于我们研究各种组织环境和疾病状态下的源元素调节的能力。这个,反过来,将使我们更好地了解人类的MEI诱变以及这种诱变对人类生物学的影响。
