Suppr超能文献

追踪长散在核元件:对人类特异性LINE-1插入位点的灵长类基因组变异分析

Following the LINEs: an analysis of primate genomic variation at human-specific LINE-1 insertion sites.

作者信息

Vincent Bethaney J, Myers Jeremy S, Ho Huei Jin, Kilroy Gail E, Walker Jerilyn A, Watkins W Scott, Jorde Lynn B, Batzer Mark A

机构信息

Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, USA.

出版信息

Mol Biol Evol. 2003 Aug;20(8):1338-48. doi: 10.1093/molbev/msg146. Epub 2003 May 30.

Abstract

The L1 Ta subfamily of long interspersed elements (LINEs) consists exclusively of human-specific L1 elements. Polymerase chain reaction-based screening in nonhuman primate genomes of the orthologous sites for 249 human L1 Ta elements resulted in the recovery of various types of sequence variants for approximately 12% of these loci. Sequence analysis was employed to capture the nature of the observed variation and to determine the levels of gene conversion and insertion site homoplasy associated with LINE elements. Half of the orthologous loci differed from the predicted sizes due to localized sequence variants that occurred as a result of common mutational processes in ancestral sequences, often including regions containing simple sequence repeats. Additional sequence variation included genomic deletions that occurred upon L1 insertion, as well as successive mobile element insertions that accumulated within a single locus over evolutionary time. Parallel independent mobile element insertions at orthologous loci in distinct species may introduce homoplasy into retroelement-based phylogenetic and population genetic data. We estimate the overall frequency of parallel independent insertion events at L1 insertion sites in seven different primate species to be very low (0.52%). In addition, no cases of insertion site homoplasy involved the integration of a second L1 element at any of the loci, but rather largely involved secondary insertions of Alu elements. No independent mobile element insertion events were found at orthologous loci in the human and chimpanzee genomes. Therefore, L1 insertion polymorphisms appear to be essentially homoplasy free characters well suited for the study of population genetics and phylogenetic relationships within closely related species.

摘要

长散布元件(LINEs)的L1 Ta亚家族仅由人类特有的L1元件组成。在非人类灵长类动物基因组中,针对249个人类L1 Ta元件的直系同源位点进行基于聚合酶链反应的筛选,结果在约12%的这些位点中发现了各种类型的序列变异。采用序列分析来了解所观察到的变异的性质,并确定与LINE元件相关的基因转换水平和插入位点同塑性。由于祖先序列中常见突变过程导致的局部序列变异,一半的直系同源位点与预测大小不同,这些变异通常包括含有简单序列重复的区域。其他序列变异包括L1插入时发生的基因组缺失,以及在进化时间内单个位点上积累的连续移动元件插入。不同物种直系同源位点上平行独立的移动元件插入可能会在基于逆转录元件的系统发育和群体遗传数据中引入同塑性。我们估计在七种不同灵长类物种的L1插入位点上平行独立插入事件的总体频率非常低(0.52%)。此外,没有任何插入位点同塑性的情况涉及在任何位点上第二个L1元件的整合,而是主要涉及Alu元件的二次插入。在人类和黑猩猩基因组的直系同源位点上未发现独立的移动元件插入事件。因此,L1插入多态性似乎基本上是无同塑性的特征,非常适合用于研究近缘物种内的群体遗传学和系统发育关系。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验