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核心基因组支架比较揭示了倒位事件与成对反向重复序列相关的普遍性。

Core-genome scaffold comparison reveals the prevalence that inversion events are associated with pairs of inverted repeats.

作者信息

Wang Dan, Li Shuaicheng, Guo Fei, Ning Kang, Wang Lusheng

机构信息

Department of Computer Science, City University of Hong Kong, 83 Tat Chee Ave., Hong Kong, SAR, People's Republic of China.

School of Computer Science and Technology, Tianjin University, Tianjin, People's Republic of China.

出版信息

BMC Genomics. 2017 Mar 29;18(1):268. doi: 10.1186/s12864-017-3655-0.

Abstract

BACKGROUND

Genome rearrangement describes gross changes of chromosomal regions, plays an important role in evolutionary biology and has profound impacts on phenotype in organisms ranging from microbes to humans. With more and more complete genomes accomplished, lots of genomic comparisons have been conducted in order to find genome rearrangements and the mechanisms which underlie the rearrangement events. In our opinion, genomic comparison of different individuals/strains within the same species (pan-genome) is more helpful to reveal the mechanisms for genome rearrangements since genomes of the same species are much closer to each other.

RESULTS

We study the mechanism for inversion events via core-genome scaffold comparison of different strains within the same species. We focus on two kinds of bacteria, Pseudomonas aeruginosa and Escherichia coli, and investigate the inversion events among different strains of the same species. We find an interesting phenomenon that long (larger than 10,000 bp) inversion regions are flanked by a pair of Inverted Repeats (IRs). This mechanism can also explain why the breakpoint reuses for inversion events happen. We study the prevalence of the phenomenon and find that it is a major mechanism for inversions. The other observation is that for different rearrangement events such as transposition and inverted block interchange, the two ends of the swapped regions are also associated with repeats so that after the rearrangement operations the two ends of the swapped regions remain unchanged. To our knowledge, this is the first time such a phenomenon is reported for transposition event.

CONCLUSIONS

In both Pseudomonas aeruginosa and Escherichia coli strains, IRs were found at the two ends of long sequence inversions. The two ends of the inversion remained unchanged before and after the inversion event. The existence of IRs can explain the breakpoint reuse phenomenon. We also observed that other rearrangement operations such as transposition, inverted transposition, and inverted block interchange, had repeats (not necessarily inverted) at the ends of each segment, where the ends remained unchanged before and after the rearrangement operations. This suggests that the conservation of ends could possibly be a popular phenomenon in many types of chromosome rearrangement events.

摘要

背景

基因组重排描述了染色体区域的重大变化,在进化生物学中起着重要作用,并且对从微生物到人类等各种生物体的表型都有深远影响。随着越来越多的完整基因组被完成,人们进行了大量的基因组比较,以发现基因组重排及其背后的机制。我们认为,同一物种内不同个体/菌株的基因组比较(泛基因组)对于揭示基因组重排机制更有帮助,因为同一物种的基因组彼此更为接近。

结果

我们通过对同一物种内不同菌株的核心基因组支架进行比较来研究倒位事件的机制。我们聚焦于两种细菌,铜绿假单胞菌和大肠杆菌,并研究同一物种不同菌株间的倒位事件。我们发现了一个有趣的现象,即长(大于10,000 bp)的倒位区域两侧是一对反向重复序列(IRs)。这一机制也可以解释倒位事件中断点重复利用现象为何发生。我们研究了该现象的普遍性,发现它是倒位的一种主要机制。另一个观察结果是,对于不同的重排事件,如转座和反向块互换,交换区域的两端也与重复序列相关联,这样在重排操作之后,交换区域的两端保持不变。据我们所知,这是首次报道转座事件出现这种现象。

结论

在铜绿假单胞菌和大肠杆菌菌株中,均在长序列倒位的两端发现了IRs。倒位事件前后,倒位两端保持不变。IRs的存在可以解释断点重复利用现象。我们还观察到,其他重排操作,如转座、反向转座和反向块互换,在每个片段的末端都有重复序列(不一定是反向的),在重排操作前后,这些末端保持不变。这表明末端的保守性可能是许多类型染色体重排事件中的普遍现象。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ae3/5372343/ef4995d2e3f0/12864_2017_3655_Fig1_HTML.jpg

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