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Comparative genomics of opportunistic Phialophora species involved in divergent disease types

Yinggai Song1,2,3, Nickolas Menezes da Silva4, Vania A Vicente4,5

  • 1Department of Dermatology and Venereology, Peking University First Hospital, Beijing, China.

Mycoses
|January 17, 2021
PubMed
Abstract

Insights

Opportunistic Phialophora fungi can infect healthy and immunocompromised individuals, particularly those with CARD9 immunodeficiency. Genomic analysis revealed no significant differences in virulence factors between environmental and clinical strains.

Area of Science:

  • Medical Mycology
  • Genomics
  • Immunology

Background:

  • The Phialophora verrucosa complex comprises opportunistic fungal species capable of causing diverse diseases in both immunocompetent and immunocompromised individuals.
  • These fungi are disproportionately represented in infections associated with CARD9 (Caspase Recruitment Domain-Containing protein 9) deficiency.

Purpose of the Study:

  • To investigate the ecological distribution and pathogenic potential of Phialophora species.
  • To identify genetic factors influencing their behavior in vivo.
  • To analyze the genetic profiles of Phialophora in patients with CARD9 immunodeficiency.

Main Methods:

  • Whole-genome sequencing of 26 Phialophora strains from six species.
  • Multilocus analysis for accurate identification of environmental and clinical isolates.
  • Comparative genomic analysis of strains from various disease types, including CARD9 immunodeficiency.

Main Results:

  • Genome sizes ranged from 32-37 MB, with notable intraspecific genomic variation in species like P. americana and P. verrucosa.
  • Phialophora species, especially P. verrucosa, are frequently found in patients with CARD9-related immunodeficiency.
  • Specific CARD9 mutations correlate with susceptibility to different fungal species (Candida, dermatophytes, black fungi), and novel CARD9 mutations were identified in chromoblastomycosis patients.

Conclusions:

  • Genomic investigation did not reveal significant differences in known virulence factors between clinical and environmental Phialophora strains.
  • The Phialophora complex poses an equal risk of infection to both healthy individuals and those with CARD9 immunodeficiency.
Keywords:
CARD9 gene mutationChromoblastomycosisPKS domainsPhialophora verrucosa complexcomparative genomicsphaeohyphomycosis

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