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古基因组学,即寻找酵母DUP240基因家族在基因间区域的残留重复拷贝。

Paleogenomics or the search for remnant duplicated copies of the yeast DUP240 gene family in intergenic areas.

作者信息

Wirth Bénédicte, Louis Véronique Leh, Potier Serge, Souciet Jean-Luc, Despons Laurence

机构信息

Laboratoire de Dynamique, Evolution et Expression de Génomes de Microorganismes, FRE 2326 ULP/CNRS, Institut de Botanique, Strasbourg, France.

出版信息

Mol Biol Evol. 2005 Sep;22(9):1764-71. doi: 10.1093/molbev/msi170. Epub 2005 May 25.

Abstract

Duplication, resulting in gene redundancy, is well known to be a driving force of evolutionary change. Gene families are therefore useful targets for approaching genome evolution. To address the gene death process, we examined the fate of the 10-member-large S288C DUP240 family in 15 Saccharomyces cerevisiae strains. Using an original three-step method of analysis reported here, both slightly and highly degenerate DUP240 copies, called pseudo-open reading frames (ORFs) and relics, respectively, were detected in strain S288C. It was concluded that two previously annotated ORFs correspond, in fact, to pseudo-ORFs and three additional relics were identified in intergenic areas. Comparative intraspecies analysis of these degenerate DUP240 loci revealed that the two pseudo-ORFs are present in a nondegenerate state in some other strains. This suggests that within a given gene family different loci are the target of the gene erasure process, which is therefore strain dependent. Besides, the variable positions observed indicate that the relic sequence may diverge faster than the flanking regions. All in all, this study shows that short conserved protein motifs provide a useful tool for detecting and accurately mapping degenerate gene remnants. The present results also highlight the strong contribution of comparative genomics for gene relic detection because the possibility of finding short conserved protein motifs in intergenic regions (IRs) largely depends on the choice of the most closely related paralog or ortholog. By mapping new genetic components in previously annotated IRs, our study constitutes a further refinement step in the crucial stage of genome annotation and provides a strategy for retracing ancient chromosomal reshaping events and, hence, for deciphering genome history.

摘要

基因复制会导致基因冗余,众所周知它是进化变化的驱动力。因此,基因家族是研究基因组进化的有用对象。为了研究基因死亡过程,我们检测了15株酿酒酵母中由10个成员组成的S288C DUP240基因家族的命运。利用本文报道的一种原始的三步分析法,在S288C菌株中检测到了轻度和高度退化的DUP240拷贝,分别称为假开放阅读框(ORF)和遗迹。得出的结论是,两个先前注释的ORF实际上对应于假ORF,并且在基因间区域鉴定出另外三个遗迹。对这些退化的DUP240位点进行种内比较分析发现,这两个假ORF在其他一些菌株中以非退化状态存在。这表明在给定的基因家族中,不同的位点是基因消除过程的目标,因此该过程依赖于菌株。此外,观察到的可变位置表明遗迹序列的分歧可能比侧翼区域更快。总而言之,这项研究表明,短保守蛋白基序为检测和准确绘制退化基因残余提供了一个有用的工具。目前的结果还突出了比较基因组学对基因遗迹检测的重要贡献,因为在基因间区域(IR)中发现短保守蛋白基序的可能性很大程度上取决于最密切相关的旁系同源物或直系同源物的选择。通过在先前注释的IR中定位新的遗传成分,我们的研究在基因组注释的关键阶段构成了进一步的细化步骤,并提供了一种追溯古代染色体重塑事件的策略,从而破译基因组历史。

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