张贝
(2022-07-31 21:13):
#paper DOI: 10.1038/s41564-021-00993-x, Nat Microbiol 2021, Aspergillus fumigatus pan-genome analysis identifies genetic variants associated with human infection.
烟曲霉是一种环境腐生菌和机会致病真菌,尽管每年在全世界范围引发的侵袭性疾病超过30万例,但人们对烟曲霉的基因组多样性(毒力因子和抗真菌耐药基因多样性)仍然缺乏全面的理解。本文对来自世界各地的300株烟曲霉(83个临床分离株和217个环境分离株)进行泛基因组分析,发现7563个核心基因和3344个非核心基因。利用该环境和临床样本的大型基因组数据集,作者发现临床分离株富集于基因簇5,且基因组还包含更多的编码跨膜转运蛋白和具有铁结合活性的蛋白的基因,以及涉及碳水化合物和氨基酸代谢的基因。最后,作者采用全基因组关联研究分析与临床菌株、唑类耐药性和已知毒力相关基因的遗传变异。本文通过对300株烟曲霉的泛基因组分析,有助于了解其致病机制的多样性,最终实现对该类感染的更好管控。
Aspergillus fumigatus pan-genome analysis identifies genetic variants associated with human infection
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Abstract:
Aspergillus fumigatus is an environmental saprobe and opportunistic human fungal pathogen. Despite an estimated annual occurrence of more than 300,000 cases of invasive disease worldwide, a comprehensive survey of the genomic diversity present in A. fumigatus-including the relationship between clinical and environmental isolates and how this genetic diversity contributes to virulence and antifungal drug resistance-has been lacking. In this study we define the pan-genome of A. fumigatus using a collection of 300 globally sampled genomes (83 clinical and 217 environmental isolates). We found that 7,563 of the 10,907 unique orthogroups (69%) are core and present in all isolates and the remaining 3,344 show presence/absence of variation, representing 16-22% of the genome of each isolate. Using this large genomic dataset of environmental and clinical samples, we found an enrichment for clinical isolates in a genetic cluster whose genomes also contain more accessory genes, including genes coding for transmembrane transporters and proteins with iron-binding activity, and genes involved in both carbohydrate and amino-acid metabolism. Finally, we leverage the power of genome-wide association studies to identify genomic variation associated with clinical isolates and triazole resistance as well as characterize genetic variation in known virulence factors. This characterization of the genomic diversity of A. fumigatus allows us to move away from a single reference genome that does not necessarily represent the species as a whole and better understand its pathogenic versatility, ultimately leading to better management of these infections.
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