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恶性疟原虫分离株基因组中低复杂度序列附近的多态性增加。

Increased polymorphism near low-complexity sequences across the genomes of Plasmodium falciparum isolates.

机构信息

Department of Biology, McMaster University, Hamilton, Ontario, Canada.

出版信息

Genome Biol Evol. 2011;3:539-50. doi: 10.1093/gbe/evr045. Epub 2011 May 21.

Abstract

Low-complexity regions (LCRs) within proteins sequences are often considered to evolve neutrally even though recent studies reported evidence for selection acting on some of them. Because of their widespread distribution among eukaryotes genomes and the potential deleterious effect of expansion/contraction of some of them in humans, low-complexity sequences are of major interest and numerous studies have attempted to describe their dynamic between genomes as well as the factors correlated to their variation and to assess their selective value. However, due to the scarcity of individual genomes within a species, most of the analyses so far have been performed at the species level with the implicit assumption that the variation both in composition and size within species is too small relative to the between-species divergence to affect the conclusions of the analysis. Here we used the available genomes of 14 Plasmodium falciparum isolates to assess the relationship between low-complexity sequence variation and factors such as nucleotide polymorphism across strains, sequence composition, and protein expression. We report that more than half of the 7,711 low-complexity sequences found within aligned coding sequences are variable in size among strains. Across strains, we observed an increasing density of polymorphic sites toward the LCR boundaries. This observation strongly suggests the joint effects of lowered selective constraints on low-complexity sequences and a mutagenic effect of these simple sequences.

摘要

蛋白质序列中的低复杂度区域 (LCRs) 通常被认为是中性进化的,尽管最近的研究报告了一些证据表明选择作用于其中的一些区域。由于它们在真核生物基因组中广泛分布,并且其中一些区域的扩张/收缩可能对人类有潜在的有害影响,因此低复杂度序列是主要关注点,许多研究试图描述它们在基因组之间的动态,以及与它们的变异相关的因素,并评估它们的选择价值。然而,由于一个物种内的个体基因组数量稀少,到目前为止,大多数分析都是在物种水平上进行的,隐含的假设是,物种内的组成和大小的变异相对于种间的差异太小,不会影响分析的结论。在这里,我们使用了 14 株恶性疟原虫分离株的现有基因组,评估了低复杂度序列变异与核苷酸多态性、序列组成和蛋白质表达等因素之间的关系。我们报告说,在对齐的编码序列中发现的 7711 个低复杂度序列中,有一半以上在菌株间大小上是可变的。在菌株间,我们观察到多态性位点的密度朝着 LCR 边界增加。这一观察结果强烈表明,低复杂度序列的选择约束降低和这些简单序列的诱变效应共同作用的结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0372/3140889/fe7d927d763b/gbeevr045f01_ht.jpg

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