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Sequence features contributing to chromosomal rearrangements in Neisseria gonorrhoeae. For a long dvs, it was not possible to induce DSBs owing to the lack of means to target DSBs to specific sites, however, with the introduction of technologies to synthesize and assemble large fragments of DNA Ellis et al. Apart from the above discussed tools and algorithms for SV detection, there are a number of other tools Supplementary Table S2 as well that can be explored in context of prokaryotic genomes and are worth mentioning such as Pindel Ye et al.

We briefly describe the various types of SVs, discuss their probable molecular mechanisms of formation, advances in the development of tools and techniques to detect SVs and also their phenotypic consequences in context of prokaryotic genomes. The balanced SVs comprise inversions. InSun et al. Single molecule linear analysis of DNA in nano-channel labeled with sequence specific fluorescent probes.

Deletions and duplications can potentially lead to altered doses of otherwise functionally circjlar elements. The Neisseria species contains an extensive array of repetitive sequences such as tandem repeats and IS elements spread throughout its genome.

It furthers the University’s objective of excellence in research, scholarship, and education by publishing worldwide. Deletions entail loss of a genomic segment, and could be intragenic, wherein they result in inactivation of a gene or the loss of one or more functional domains or an altered gene function.


The technique has been efficiently used to introduce insertions, deletions, inversions and translocations in E. However, recent studies demonstrate that genome rearrangements can also have profound impact on prokaryotic genomes, leading to altered cell phenotype. In another study, experimental deletion of the mutS gene of E.

Impact of large chromosomal inversions on the adaptation and evolution of Pseudomonas aeruginosa chronically colonizing cystic fibrosis lungs. Complete genome sequence of USA, an epidemic clone of community-acquired meticillin-resistant Staphylococcus aureus. However, with the availability of long reads sequencing technologies with read lengths sometimes extending to tens of kilobases from single molecule sequencing approaches Quail et al.

On-chip, real-time, single-copy polymerase chain reaction in picoliter droplets. Deletion mutation analysis of the mutS gene in Escherichia coli. D Inversions affecting gene structure, the gene gets inverted and flipped and rearranges, thereby pushing one of the promoters of first gene orange away from it. This includes a wide variety of chromosomal contexts such as sequence and structural motifs, repeat elements, insertion sequence IS elements and transposon elements TE Mahillon and Chandler, ; Treangen et al.


Introduction of mobile genetic elements by site-specific recombinases can cigcular epidemiological advantage to the pathogen with traits such as survival under low pH conditions, and stressed environments, or drug-resistant strains Deurenberg et al. Published by Oxford University Press.

SVs involving IS elements have been shown to activate the expression of neighboring genes Hubner and Hendrickson, ; Mahillon and Svd, Large inversions, which disturb the symmetry around the constrained chromosomal regions, i. Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes.

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Symmetrical circulr of genes encompassing the oriC does not change gene location with respect to the leading and lagging DNA strands Eisen et al. Tandem duplication and multiple functions of a receptor gene in bacterial chemotaxis.


This type of SV is particularly more evident and common in multi-chromosomal bacteria, where the smaller secondary chromosomes evolve more rapidly Morrow and Cooper, Acquisition of mobile genetic elements through HGT in S taphylococcus aureus contributes to its genotypic and phenotypic diversity Deurenberg et al.

Close mobile search navigation Article navigation. This arises from the fact that the copy number of transcripts is significantly variable and dependent on the distance of the gene from the oriC, and a strong positional bias for genes with specific functional attributes have been observed. Gene deletions could also arise from recombination events involving repeats Gaudriault et al.

Next-generation VariationHunter Hormozdiari et al. Instead of mapping reads obtained from stationary culture where copy number is constant, they obtained clear contrasting behavior of reads from DNA of exponentially growing cultures confirming presence of a large inversion.

Some important studies emphasizing the functional impact of SVs in prokaryotic genomes have been established Darling et al. In bacterial genomes, chromosomal rearrangements can change the distance of a gene from the origin of chromosome replication oriC leading to altered gene copy number and thereby circulra its expression Rebollo et al.

Detection of recombination events in bacterial genomes from large population samples. Nevertheless, as the mechanism of SV formation in both eukaryotes and prokaryotes appears similar Hastings et al.