High-quality genome assembly and comparative analysis reveal extensive genomic variation in Talaromyces marneffei
Jinxia Luo1, Jingyuan Bian1, Michaela Murillo1
1Department of Health Technology and Informatics, Faculty of Health and Social Science, The Hong Kong Polytechnic University, Hong Kong, PR China.
Abstract:
Talaromyces marneffei is a dimorphic fungus that transitions from a filamentous form at 25 °C to a pathogenic yeast form at 37 °C, demonstrating pathogenicity mostly in immunocompromised individuals, such as those with human immunodeficiency virus/AIDS. Though it is one of the most severe infectious fungi in Southeast Asia, the lack of comprehensive genomic analysis has hindered advancement in strain differentiation, diagnosis and treatment. In this study, we assembled a high-quality genome of T. marneffei ATCC 18224, resulting in a 28.9 Mb genome distributed across 11 contigs, using third-generation Oxford Nanopore Technologies sequencing reads. Notably, we identified a strain-specific 740-kb segmental duplication in strain ATCC 18224, potentially mediated by inserting a Ty1/Copia long terminal repeat (LTR) retrotransposon. This segmental duplication includes various functional genes, with 75 differentially expressed during its dimorphic transition. Comparative genomic analysis revealed large-scale rearrangements in strains PM1 and 11CN-20-091, which were inconsistent with the phylogenomic trees of six T. marneffei strains and required further investigation. Additionally, we observed substantial genetic structural variations in LTR retrotransposons, particularly within the Ty1/Copia family, including two significant recent expansions in strain ATCC 18224. In summary, the identification and characterization of these extensive genomic structural variations in T. marneffei contribute to a deep understanding of its genetic diversity and will facilitate improvements in genotyping, classification and genomic surveillance.
Insights
This study presents a high-quality genome of Talaromyces marneffei, revealing significant genomic variations and duplications. These findings enhance understanding of fungal genetic diversity for improved diagnostics and surveillance.
Area of Science:
- Mycology
- Genomics
- Infectious Diseases
Background:
- Talaromyces marneffei is a dimorphic fungus causing severe infections, particularly in immunocompromised individuals in Southeast Asia.
- Limited genomic data has hindered Talaromyces marneffei strain differentiation, diagnosis, and treatment strategies.
- Genomic structural variations are crucial for understanding fungal pathogenicity and evolution.
Purpose of the Study:
- To assemble a high-quality genome of Talaromyces marneffei ATCC 18224.
- To identify and characterize genomic structural variations, including segmental duplications and retrotransposon activity.
- To provide a foundation for improved Talaromyces marneffei genotyping, classification, and genomic surveillance.
Main Methods:
- Third-generation Oxford Nanopore Technologies sequencing for genome assembly.
- Identification of segmental duplications and long terminal repeat (LTR) retrotransposons.
- Comparative genomic analysis across multiple Talaromyces marneffei strains.
Main Results:
- A 28.9 Mb Talaromyces marneffei genome was assembled into 11 contigs.
- A strain-specific 740-kb segmental duplication, potentially involving a Ty1/Copia LTR retrotransposon, was identified.
- Significant genetic structural variations and recent Ty1/Copia retrotransposon expansions were observed in strain ATCC 18224.
- Comparative analysis revealed large-scale rearrangements in other strains, prompting further investigation.
Conclusions:
- The high-quality genome assembly and characterization of structural variations in Talaromyces marneffei advance our understanding of its genetic diversity.
- Identified genomic features provide insights into the dimorphic transition and pathogenicity of Talaromyces marneffei.
- This genomic resource will facilitate advancements in Talaromyces marneffei diagnostics, strain differentiation, and epidemiological surveillance.
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