Genome variation of Sporothrix schenckii and Sporothrix brasiliensis
14 affiliations
- 1Mycotic Diseases Branch, Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America
- 2Biotechnology Core Facility Branch, Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America
- 3Instituto Nacional de Infectologia Evandro Chagas: Rio de Janeiro, Rio de Janeiro, Brazil
- 4Núcleo de Medicina Tropical, Faculty of Medicine, University of Brasília, Brasília, Distrito Federal, Brazil
- 5Genomic Sciences and Biotechnology Graduate Program, Universidade Católica de Brasília (UCB), Brasília, Distrito Federal, Brazil
- 6Ministry of Public Health and Social Welfare, Asuncion, Paraguay
- 7School of Medicine, Federal University of Rio Grande (FURG), Rio Grande, Rio Grande do Sul, Brazil
- 8Radboudumc-CWZ Center of Expertise for Mycology, Nijmegen, The Netherlands
- 9Department of Medical Microbiology and Immunology, Canisius-Wilhelmina Hospital (CWZ)/Dicoon, Nijmegen, The Netherlands
- 10Faculty of Ceilandia, University of Brasilia, Brasilia, Distrito Federal, Brazil
- 11Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, Arizona, United States of America
- 12Department of Microbiology and Plant Pathology, University of California-Riverside, Riverside, California, United States of America
- 13School of Biosciences, University of Birmingham, Birmingham, United Kingdom
- 14University of North Carolina, Chapel Hill, North Carolina, United States of America
Abstract
Sporotrichosis, a subcutaneous mycosis caused by dimorphic fungi of the Sporothrix genus, has become a major zoonotic epidemic in South America, primarily driven by Sporothrix brasiliensis. To elucidate the genomic basis of its emergence and antifungal adaptation, we analyzed whole-genome sequences from 95 Sporothrix isolates, integrating single-nucleotide polymorphism (SNP), copy number variation (CNV), and genome-wide association (GWAS) analyses. Comparative genomics revealed 610,242 SNPs within S. brasiliensis and 1,474,627 within S. schenckii, confirming a marked disparity in intraspecific diversity. Phylogenomic tree inference resolved six well-supported S. brasiliensis clades with limited internal divergence, reflecting recent population expansion, while S. schenckii displayed deep phylogeographic structure separating North and South American lineages. CNV profiling identified 158 affected genes in S. brasiliensis (60 gains, 98 losses) and 88 in S. schenckii (54 gains, 34 losses), concentrated near sub-telomeric regions. In S. brasiliensis, gains were enriched for kinases and intracellular trafficking functions, whereas losses involved genes related to translation and primary metabolism, suggesting regulatory reinforcement coupled with metabolic streamlining. A GWAS of itraconazole resistance identified 81 SNPs distributed across multiple scaffolds, with many located within genes related with transport, signaling, and redox balance, supporting a polygenic basis for azole response. The implication of these alleles with itraconazole resistance warrants experimental followup. Together, these results highlight distinct evolutionary strategies of closely related Sporothrix species and pinpoint genomic changes potentially associated with the emergence and drug tolerance of S. brasiliensis. Author summary: Sporotrichosis is a fungal disease that affects humans and animals and has become an important public health problem in South America. The disease is often transmitted from infected cats to humans and is mainly caused by Sporothrix brasiliensis, although related species such as Sporothrix schenckii also cause human infections. In this study, we analyzed whole-genome data from S. brasiliensis and S. schenckii isolates to better understand how these fungi are evolving, spreading, and responding to antifungal treatment. We found that S. brasiliensis has a more clonal population structure, consistent with recent epidemic expansion, whereas S. schenckii shows deeper geographic separation between North and South American lineages. We also identified genome regions affected by copy number variation, suggesting that structural changes may contribute to adaptation in these fungi. Finally, we detected genetic variants associated with itraconazole response. The contribution of these alleles will need to be followed up with functional genetics assays. These findings provide a genomic framework for surveillance of sporotrichosis and for future studies on fungal emergence and antifungal resistance.
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BibTeX
@article{bagal2026genome,
title = {{Genome variation of Sporothrix schenckii and Sporothrix brasiliensis}},
author = {Ujwal R. Bagal and Amanda R. Santos and Rodrigo Almeida Paes and Lucas Gomes de Brito Alves and Luz Rocio Chamorro and Lindsay A. Parnell and Jose Pereira Brunelli and Nancy A. Chow and Jan Pohl and Vanessa Rabello Brito and Vanice Rodrigues Poester and Bram Spruijtenburg and Larissa Fernandes and Bridget M. Barker and Jason E. Stajich and Maria Sueli Felipe and Johanna Rhodes and Melissa Orzechowski Xavier and Daniel R. Matute and Rosely Zancope and Marcus de Melo Teixeira},
journal = {PLOS Neglected Tropical Diseases},
year = {2026},
month = sep,
doi = {10.1371/journal.pntd.0014203},
url = {https://journals.plos.org/plosntds/article?id=10.1371/journal.pntd.0014203},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Genome variation of Sporothrix schenckii and Sporothrix brasiliensis
AU - Ujwal R. Bagal
AU - Amanda R. Santos
AU - Rodrigo Almeida Paes
AU - Lucas Gomes de Brito Alves
AU - Luz Rocio Chamorro
AU - Lindsay A. Parnell
AU - Jose Pereira Brunelli
AU - Nancy A. Chow
AU - Jan Pohl
AU - Vanessa Rabello Brito
AU - Vanice Rodrigues Poester
AU - Bram Spruijtenburg
AU - Larissa Fernandes
AU - Bridget M. Barker
AU - Jason E. Stajich
AU - Maria Sueli Felipe
AU - Johanna Rhodes
AU - Melissa Orzechowski Xavier
AU - Daniel R. Matute
AU - Rosely Zancope
AU - Marcus de Melo Teixeira
PY - 2026
DA - 2026/09/21
JO - PLOS Neglected Tropical Diseases
DO - 10.1371/journal.pntd.0014203
UR - https://journals.plos.org/plosntds/article?id=10.1371/journal.pntd.0014203
AB - Sporotrichosis, a subcutaneous mycosis caused by dimorphic fungi of the Sporothrix genus, has become a major zoonotic epidemic in South America, primarily driven by Sporothrix brasiliensis. To elucidate the genomic basis of its emergence and antifungal adaptation, we analyzed whole-genome sequences from 95 Sporothrix isolates, integrating single-nucleotide polymorphism (SNP), copy number variation (CNV), and genome-wide association (GWAS) analyses. Comparative genomics revealed 610,242 SNPs within S. brasiliensis and 1,474,627 within S. schenckii, confirming a marked disparity in intraspecific diversity. Phylogenomic tree inference resolved six well-supported S. brasiliensis clades with limited internal divergence, reflecting recent population expansion, while S. schenckii displayed deep phylogeographic structure separating North and South American lineages. CNV profiling identified 158 affected genes in S. brasiliensis (60 gains, 98 losses) and 88 in S. schenckii (54 gains, 34 losses), concentrated near sub-telomeric regions. In S. brasiliensis, gains were enriched for kinases and intracellular trafficking functions, whereas losses involved genes related to translation and primary metabolism, suggesting regulatory reinforcement coupled with metabolic streamlining. A GWAS of itraconazole resistance identified 81 SNPs distributed across multiple scaffolds, with many located within genes related with transport, signaling, and redox balance, supporting a polygenic basis for azole response. The implication of these alleles with itraconazole resistance warrants experimental followup. Together, these results highlight distinct evolutionary strategies of closely related Sporothrix species and pinpoint genomic changes potentially associated with the emergence and drug tolerance of S. brasiliensis. Author summary: Sporotrichosis is a fungal disease that affects humans and animals and has become an important public health problem in South America. The disease is often transmitted from infected cats to humans and is mainly caused by Sporothrix brasiliensis, although related species such as Sporothrix schenckii also cause human infections. In this study, we analyzed whole-genome data from S. brasiliensis and S. schenckii isolates to better understand how these fungi are evolving, spreading, and responding to antifungal treatment. We found that S. brasiliensis has a more clonal population structure, consistent with recent epidemic expansion, whereas S. schenckii shows deeper geographic separation between North and South American lineages. We also identified genome regions affected by copy number variation, suggesting that structural changes may contribute to adaptation in these fungi. Finally, we detected genetic variants associated with itraconazole response. The contribution of these alleles will need to be followed up with functional genetics assays. These findings provide a genomic framework for surveillance of sporotrichosis and for future studies on fungal emergence and antifungal resistance.
SN - 1935-2735
ER -