scholarly journals DISTRIBUTION OF MOBILE GENETIC ELEMENTS IN CANCER GENES

2021 ◽  
Author(s):  
Preeti P ◽  
Tapan Kumar Baral ◽  
Kamal Rawal

Mobile genetic elements (MGEs) represent a large portion of the human genome. Its ability tochange their position within the genome has contributed to evolution, however, the same has alsoresulted in several mutations. Many of such mutations are known to cause exon skipping orpremature truncation that result in non-functional or dysfunctional protein, leading to cancer. Here,in this study we aim to determine the distribution of MGEs in cancer-associated genes as comparedto non-cancer associated genes. We curated a list of genes for both the categories and downloadedthe nucleotide sequences of these genes and ran on RepeatMasker to identify the MGEs in eachgene. All the data generated with respect to each gene was parsed and compared. The resultsshowed that the number and the sequence length covered by the identified MGEs in cancer-associated genes were comparatively high. The abundance of MGEs may be correlated with thehigh risk of deletion/insertion of large DNA segments in these genes, that results in higher risk ofcancer. Further studies need to be performed for better clarity on these associations.

2021 ◽  
Vol 28 ◽  
pp. 128-134
Author(s):  
O. V. Pidpala ◽  
L. L. Lukash

Aim.To analyze the distribution of species-specific mobile genetic elements (MGE) in orthologs of the MGMT gene in Platyrrhina. Methods. The homology between nucleotide sequences was determined by BLAST 2.6.1. The results of the search and identification of MGE were performed  using  the  CENSOR program. Results. On the example of orthologs of the MGMT gene in New World monkeys, it has been shown that different species-specific MGE identified in their intron sequences may have different evolutionary chronologies. In the case of the element Alu2_TS, which originated in the Tarsiiformes representative, it was found that in evolutionarily close primates it undergoes deletion degradation, while fragments of the human-specific L1Hs element are found in the genomes of evolutionarily distant primates long before the formation and emergence of this retroelement. Conclusions. The chronology of  evolutionary changes in the gene MGMT and its species-specific MGE can be of different nature and occur in parallele and independently. Keywords: Platyrrhina, MGMT gene, MGE, Alu2_TS, L1Hs.


2021 ◽  
Author(s):  
Preeti P ◽  
Robin Sinha ◽  
kamal rawal

Background: Mobile genetic elements (MGEs) comprise a major portion of the human genome and are essential for genetic diversity. These elements are known to have the capability to induce mutations in the human genome. To date, there are several MGE insertions which have been reported to be associated with cancer. We aim to use genome next-generation sequencing data and appropriate bioinformatics tools to accurately identify the insertion sites of MGEs in the human genome.Results: Herein, we introduce the MeX pipeline for the localization and annotation of MGEs in paired-end sequencing data. It requires the reference genome sequence, MGE sequences and paired-end sequencing reads. We evaluated MeX on high depth (>75×) Illumina HiSeq data produced at the Broad Institute (NA12878) against human genome 38-built (including only chromosome 1, 2 and 3) and Alu elements. We could identify 78 reference and 1 non-reference Alu insertions in the NA12878 sample. Upon annotation, it was found that the non-reference Alu element was in the 3' UTR region of the RNF2 gene. Out of 78 reference insertions, 42 were in the intronic region, 7 in the upstream region, 5 in the downstream region, 1 in the 3’ UTR region and the rest were not associated with any gene. MeX showed high performance for the identification and annotation of MGEs in genome samples.Conclusion: This study showed that MeX is a robust and powerful tool for the identification and annotation of MGE insertions. It may also serve as a valuable tool to study the phenotypic changes resulting from transpositional events in cancer genomics.


Author(s):  
N.V. Bardukov ◽  
◽  
A.V. Feofilov ◽  
T.T. Glazko ◽  
V.I. Glazko ◽  
...  

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Pimlapas Leekitcharoenphon ◽  
Markus Hans Kristofer Johansson ◽  
Patrick Munk ◽  
Burkhard Malorny ◽  
Magdalena Skarżyńska ◽  
...  

AbstractThe emergence of antimicrobial resistance (AMR) is one of the biggest health threats globally. In addition, the use of antimicrobial drugs in humans and livestock is considered an important driver of antimicrobial resistance. The commensal microbiota, and especially the intestinal microbiota, has been shown to have an important role in the emergence of AMR. Mobile genetic elements (MGEs) also play a central role in facilitating the acquisition and spread of AMR genes. We isolated Escherichia coli (n = 627) from fecal samples in respectively 25 poultry, 28 swine, and 15 veal calf herds from 6 European countries to investigate the phylogeny of E. coli at country, animal host and farm levels. Furthermore, we examine the evolution of AMR in E. coli genomes including an association with virulence genes, plasmids and MGEs. We compared the abundance metrics retrieved from metagenomic sequencing and whole genome sequenced of E. coli isolates from the same fecal samples and farms. The E. coli isolates in this study indicated no clonality or clustering based on country of origin and genetic markers; AMR, and MGEs. Nonetheless, mobile genetic elements play a role in the acquisition of AMR and virulence genes. Additionally, an abundance of AMR was agreeable between metagenomic and whole genome sequencing analysis for several AMR classes in poultry fecal samples suggesting that metagenomics could be used as an indicator for surveillance of AMR in E. coli isolates and vice versa.


BMC Genomics ◽  
2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Yuan Wu ◽  
Lin Yang ◽  
Wen-Ge Li ◽  
Wen Zhu Zhang ◽  
Zheng Jie Liu ◽  
...  

Abstract Background Clade 5 Clostridioides difficile diverges significantly from the other clades and is therefore, attracting increasing attention due its great heterogeneity. In this study, we used third-generation sequencing techniques to sequence the complete whole genomes of three ST11 C. difficile isolates, RT078 and another two new ribotypes (RTs), obtained from three independent hospitalized elderly patients undergoing antibiotics treatment. Mobile genetic elements (MGEs), antibiotic-resistance, drug resistance genes, and virulent-related genes were analyzed and compared within these three isolates. Results Isolates 10,010 and 12,038 carried a distinct deletion in tcdA compared with isolate 21,062. Furthermore, all three isolates had identical deletions and point-mutations in tcdC, which was once thought to be a unique characteristic of RT078. Isolate 21,062 (RT078) had a unique plasmid, different numbers of transposons and genetic organization, and harboring special CRISPR spacers. All three isolates retained high-level sensitivity to 11 drugs and isolate 21,062 (RT078) carried distinct drug-resistance genes and loss of numerous flagellum-related genes. Conclusions We concluded that capillary electrophoresis based PCR-ribotyping is important for confirming RT078. Furthermore, RT078 isolates displayed specific MGEs, indicating an independent evolutionary process. In the further study, we could testify these findings with more RT078 isolates of divergent origins.


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