scholarly journals Genome plasticity and its role in leishmania adaptation and drug resistance

2021 ◽  
Vol 0 ◽  
pp. 1-8
Author(s):  
Rhiannon Moody

Objectives: This literature review aims to summarize the current knowledge regarding the genome plasticity observed within the genome of the Leishmania parasite, and to discuss how genome plasticity contributes to the adaptation of the parasite and to development of a drug resistant state. Material and Methods: The search terms “Leishmania” and “genome plasticity”, were used to search the PubMed database for relevant papers, published between the years 2000 and 2020. Results: Aneuploidy within the Leishmania genome allows for drug resistance and adaptation to the environment. In addition copy number variation promotes the up regulation of genes conferring drug resistant capabilities to the parasite. Conclusion: Drug-resistant Leishmania mutants display differential patterns of chromosomal somy when compared to wild-type strains. Highlighting a role for mosaic aneuploidy in the development of drug resistance. Leishmania parasites in the amastigote life cycle stage display differential gene copy numbers compared to parasites in the promastigote life cycle stage. Suggesting that copy number variation contributes to parasite adaptation to the environment.

BMC Biology ◽  
2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Yu-Hsuan Cheng ◽  
Chien-Fu Jeff Liu ◽  
Yen-Hsin Yu ◽  
Yu-Ting Jhou ◽  
Masahiro Fujishima ◽  
...  

Abstract Background Ciliates are an ancient and diverse eukaryotic group found in various environments. A unique feature of ciliates is their nuclear dimorphism, by which two types of nuclei, the diploid germline micronucleus (MIC) and polyploidy somatic macronucleus (MAC), are present in the same cytoplasm and serve different functions. During each sexual cycle, ciliates develop a new macronucleus in which newly fused genomes are extensively rearranged to generate functional minichromosomes. Interestingly, each ciliate species seems to have its way of processing genomes, providing a diversity of resources for studying genome plasticity and its regulation. Here, we sequenced and analyzed the macronuclear genome of different strains of Paramecium bursaria, a highly divergent species of the genus Paramecium which can stably establish endosymbioses with green algae. Results We assembled a high-quality macronuclear genome of P. bursaria and further refined genome annotation by comparing population genomic data. We identified several species-specific expansions in protein families and gene lineages that are potentially associated with endosymbiosis. Moreover, we observed an intensive chromosome breakage pattern that occurred during or shortly after sexual reproduction and contributed to highly variable gene dosage throughout the genome. However, patterns of copy number variation were highly correlated among genetically divergent strains, suggesting that copy number is adjusted by some regulatory mechanisms or natural selection. Further analysis showed that genes with low copy number variation among populations tended to function in basic cellular pathways, whereas highly variable genes were enriched in environmental response pathways. Conclusions We report programmed DNA rearrangements in the P. bursaria macronuclear genome that allow cells to adjust gene copy number globally according to individual gene functions. Our results suggest that large-scale gene copy number variation may represent an ancient mechanism for cells to adapt to different environments.


2021 ◽  
Author(s):  
Thuraya M Mutawi ◽  
Mohamed M Zedan ◽  
Raida S Yahya ◽  
Mahmoud M Zakria ◽  
Mamdouh R El-Sawi ◽  
...  

Aim: This study investigated major allelic variants of CYP2D6, CYP3A4 and CYP3A5 in Egyptians, an Arabic population for which there is little information regarding these important pharmacogenes. Patients & methods: CYP2D6*2, *4, *5, *10, *41 and gene copy number variation, as well as CYP3A4*22 and CYP3A5*3 were determined with commercially available TaqMan assays in 145 healthy study participants. Results: The CYP2D6 alleles identified suggest that the prevalence of poor metabolizers is low as none were found among the 145 subjects investigated. The frequency for CYP3A5 nonexpressers was 74.5% and the CYP3A4*22 allele frequency was low at 2.0%. Conclusion: These preliminary findings indicate that pharmacogene variation in Egyptians is different from those of other Middle Eastern/Arabic populations and warrants further investigation.


2007 ◽  
Vol 96 (1-3) ◽  
pp. 93-99 ◽  
Author(s):  
S SUTRALA ◽  
D GOOSSENS ◽  
N WILLIAMS ◽  
L HEYRMAN ◽  
R ADOLFSSON ◽  
...  

2012 ◽  
Vol 12 (1) ◽  
pp. 177 ◽  
Author(s):  
Bettina E Schirrmeister ◽  
Daniel A Dalquen ◽  
Maria Anisimova ◽  
Homayoun C Bagheri

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