Multiple genome analysis of Candida glabrata clinical isolates renders new insights into genetic diversity and drug resistance determinants

The emergence of drug resistance significantly hampers the treatment of human infections, including those caused by fungal pathogens such as Candida species. Candida glabrata ranks as the second most common cause of candidiasis worldwide, supported by rapid acquisition of resistance to azole and ech...

Full description

Saved in:
Bibliographic Details
Main Authors: Pedro Pais, Mónica Galocha, Azusa Takahashi-Nakaguchi, Hiroji Chibana, Miguel C. Teixeira
Format: Article
Language:English
Published: Shared Science Publishers OG 2022-10-01
Series:Microbial Cell
Subjects:
Online Access:http://microbialcell.com/researcharticles/2022a-pais-microbial-cell/
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850034976542687232
author Pedro Pais
Mónica Galocha
Azusa Takahashi-Nakaguchi
Hiroji Chibana
Miguel C. Teixeira
author_facet Pedro Pais
Mónica Galocha
Azusa Takahashi-Nakaguchi
Hiroji Chibana
Miguel C. Teixeira
author_sort Pedro Pais
collection DOAJ
description The emergence of drug resistance significantly hampers the treatment of human infections, including those caused by fungal pathogens such as Candida species. Candida glabrata ranks as the second most common cause of candidiasis worldwide, supported by rapid acquisition of resistance to azole and echinocandin antifungals frequently prompted by single nucleotide polymorphisms (SNPs) in resistance associated genes, such as PDR1 (azole resistance) or FKS1/2 (echinocandin resistance). To determine the frequency of polymorphisms and genome rearrangements as the possible genetic basis of C. glabrata drug resistance, we assessed genomic variation across 94 globally distributed isolates with distinct resistance phenotypes, whose sequence is deposited in GenBank. The genomes of three additional clinical isolates were sequenced, in this study, including two azole resistant strains that did not display Gain-Of-Function (GOF) mutations in the transcription factor encoding gene PDR1. Genomic variations in susceptible isolates were used to screen out variants arising from genome diversity and to identify variants exclusive to resistant isolates. More than half of the azole or echinocandin resistant isolates do not possess exclusive polymorphisms in PDR1 or FKS1/2, respectively, providing evidence of alternative genetic basis of antifungal resistance. We also identified copy number variations consistently affecting a subset of chromosomes. Overall, our analysis of the genomic and phenotypic variation across isolates allowed to pinpoint, in a genome-wide scale, genetic changes enriched specifically in antifungal resistant strains, which provides a first step to identify additional determinants of antifungal resistance. Specifically, regarding the newly sequenced strains, a set of mutations/genes are proposed to underlie the observed unconventional azole resistance phenotype.
format Article
id doaj-art-adbff0ce16c74d15a65da7dafc6ec14a
institution DOAJ
issn 2311-2638
language English
publishDate 2022-10-01
publisher Shared Science Publishers OG
record_format Article
series Microbial Cell
spelling doaj-art-adbff0ce16c74d15a65da7dafc6ec14a2025-08-20T02:57:37ZengShared Science Publishers OGMicrobial Cell2311-26382022-10-0191117418910.15698/mic2022.11.786Multiple genome analysis of Candida glabrata clinical isolates renders new insights into genetic diversity and drug resistance determinantsPedro Pais0Mónica Galocha1Azusa Takahashi-Nakaguchi2Hiroji Chibana3Miguel C. Teixeira4Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal.Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal.Medical Mycology Research Center (MMRC), Chiba University, Chiba, Japan.Medical Mycology Research Center (MMRC), Chiba University, Chiba, Japan.Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal.The emergence of drug resistance significantly hampers the treatment of human infections, including those caused by fungal pathogens such as Candida species. Candida glabrata ranks as the second most common cause of candidiasis worldwide, supported by rapid acquisition of resistance to azole and echinocandin antifungals frequently prompted by single nucleotide polymorphisms (SNPs) in resistance associated genes, such as PDR1 (azole resistance) or FKS1/2 (echinocandin resistance). To determine the frequency of polymorphisms and genome rearrangements as the possible genetic basis of C. glabrata drug resistance, we assessed genomic variation across 94 globally distributed isolates with distinct resistance phenotypes, whose sequence is deposited in GenBank. The genomes of three additional clinical isolates were sequenced, in this study, including two azole resistant strains that did not display Gain-Of-Function (GOF) mutations in the transcription factor encoding gene PDR1. Genomic variations in susceptible isolates were used to screen out variants arising from genome diversity and to identify variants exclusive to resistant isolates. More than half of the azole or echinocandin resistant isolates do not possess exclusive polymorphisms in PDR1 or FKS1/2, respectively, providing evidence of alternative genetic basis of antifungal resistance. We also identified copy number variations consistently affecting a subset of chromosomes. Overall, our analysis of the genomic and phenotypic variation across isolates allowed to pinpoint, in a genome-wide scale, genetic changes enriched specifically in antifungal resistant strains, which provides a first step to identify additional determinants of antifungal resistance. Specifically, regarding the newly sequenced strains, a set of mutations/genes are proposed to underlie the observed unconventional azole resistance phenotype.http://microbialcell.com/researcharticles/2022a-pais-microbial-cell/candida glabrataclinical isolatessnpcnvgenome variationdrug resistance
spellingShingle Pedro Pais
Mónica Galocha
Azusa Takahashi-Nakaguchi
Hiroji Chibana
Miguel C. Teixeira
Multiple genome analysis of Candida glabrata clinical isolates renders new insights into genetic diversity and drug resistance determinants
Microbial Cell
candida glabrata
clinical isolates
snp
cnv
genome variation
drug resistance
title Multiple genome analysis of Candida glabrata clinical isolates renders new insights into genetic diversity and drug resistance determinants
title_full Multiple genome analysis of Candida glabrata clinical isolates renders new insights into genetic diversity and drug resistance determinants
title_fullStr Multiple genome analysis of Candida glabrata clinical isolates renders new insights into genetic diversity and drug resistance determinants
title_full_unstemmed Multiple genome analysis of Candida glabrata clinical isolates renders new insights into genetic diversity and drug resistance determinants
title_short Multiple genome analysis of Candida glabrata clinical isolates renders new insights into genetic diversity and drug resistance determinants
title_sort multiple genome analysis of candida glabrata clinical isolates renders new insights into genetic diversity and drug resistance determinants
topic candida glabrata
clinical isolates
snp
cnv
genome variation
drug resistance
url http://microbialcell.com/researcharticles/2022a-pais-microbial-cell/
work_keys_str_mv AT pedropais multiplegenomeanalysisofcandidaglabrataclinicalisolatesrendersnewinsightsintogeneticdiversityanddrugresistancedeterminants
AT monicagalocha multiplegenomeanalysisofcandidaglabrataclinicalisolatesrendersnewinsightsintogeneticdiversityanddrugresistancedeterminants
AT azusatakahashinakaguchi multiplegenomeanalysisofcandidaglabrataclinicalisolatesrendersnewinsightsintogeneticdiversityanddrugresistancedeterminants
AT hirojichibana multiplegenomeanalysisofcandidaglabrataclinicalisolatesrendersnewinsightsintogeneticdiversityanddrugresistancedeterminants
AT miguelcteixeira multiplegenomeanalysisofcandidaglabrataclinicalisolatesrendersnewinsightsintogeneticdiversityanddrugresistancedeterminants