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Updated: Jul 15, 2025

Whole Genome Sequencing of Candida glabrata for Detection of Markers of Antifungal Drug Resistance
Published on: December 28, 2017
Recurrent copy number variations in the human fungal pathogen Candida parapsilosis
1Department of Microbiology and Immunology, University of Minnesota Medical School , Minneapolis, Minnesota, USA.
Abstract:
Candida parapsilosis is an opportunistic fungal pathogen with increasing incidence in hospital settings worldwide; however, we lack a comprehensive understanding of the mechanisms promoting its virulence and drug resistance. Bergin et al. systematically quantify the frequency and effect of copy number variation (CNV) across 170 diverse clinical and environmental isolates of C. parapsilosis (Bergin SA, Zhao F, Ryan AP, Müller CA, Nieduszynski CA, Zhai B, Rolling T, Hohl TM, Morio F, Scully J, Wolfe KH, Butler G, 2022, mBio, https://doi.org/10.1128/mbio.01777-22). Using a combination of both short- and long-read whole genome sequencing techniques, they determine the structure and copy number of two CNVs that arose recurrently throughout the evolution of these isolates. Each CNV predominantly amplifies one coding sequence (ARR3 or RTA3); however, the amplitude and recombination breakpoints are variable across the isolates. Amplification of RTA3 correlates with drug resistance and deletion causes drug susceptibility. This study highlights the need for further research into the mechanisms and dynamics of CNV formation and the impact of these CNVs on virulence and drug resistance across diverse fungal pathogens.
Insights
Copy number variation (CNV) in Candida parapsilosis influences drug resistance. Amplification of RTA3 correlates with resistance, while its deletion causes susceptibility, impacting this opportunistic fungal pathogen.
Area of Science:
- Mycology
- Genetics
- Infectious Diseases
Background:
- Candida parapsilosis is an opportunistic fungal pathogen with rising global incidence in hospitals.
- Understanding the mechanisms of its virulence and drug resistance is crucial but limited.
- Copy number variation (CNV) is a potential driver of pathogen adaptation.
Purpose of the Study:
- To systematically quantify the frequency and impact of CNV in diverse C. parapsilosis isolates.
- To investigate the role of specific CNVs in drug resistance and virulence.
- To explore the evolutionary dynamics of CNV formation in this species.
Main Methods:
- Whole genome sequencing using both short- and long-read technologies.
- Analysis of 170 diverse clinical and environmental isolates of C. parapsilosis.
- Quantification of CNV structure, copy number, and correlation with gene expression and drug susceptibility.
Main Results:
- Identified two recurrent CNVs, primarily amplifying ARR3 or RTA3 coding sequences.
- Found variable amplification levels and recombination breakpoints across isolates.
- Demonstrated that RTA3 amplification correlates with drug resistance, and deletion with drug susceptibility.
Conclusions:
- CNV is a significant factor in C. parapsilosis adaptation and drug resistance.
- The RTA3 gene is a key target for CNV-mediated drug resistance.
- Further research is needed on CNV dynamics and their broader impact on fungal pathogens.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs
Genome Copying Errors
Gene Duplication and Divergence
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
Viral Recombination
Viral Mutations

