Introduction: () is a free-living amoeba that can cause rare yet fatal granulomatous amoebic encephalitis (GAE). However, efficacious treatment for GAE is currently unavailable, especially when genomic studies on are limited.

Methods: In this study, strain KM-20 was isolated from the brain tissue of a GAE patient, and its mitochondrial genome was assembled using high-coverage Nanopore long reads and Illumina short reads.

Results And Discussion: Phylogenetic and comparative analyses revealed a range of diversification in the mitochondrial genome of KM-20 and nine other strains. According to the mitochondrial genome alignment, one of the most variable regions was observed in the ribosomal protein S3 (), which was caused by an array of novel protein tandem repeats. The repeating units in the protein tandem region present significant copy number variations (CNVs) among strains and suggest KM-20 as the most divergent strain for its highly variable sequence and highest copy number in . Moreover, mitochondrial heteroplasmy was observed in strain V039, and two genotypes of are caused by the CNVs in the tandem repeats. Taken together, the copy number and sequence variations of the protein tandem repeats enable to be a perfect target for clinical genotyping assay for . The mitochondrial genome diversity of paves the way to investigate the phylogeny and diversification of pathogenic amoebae.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196457PMC
http://dx.doi.org/10.3389/fmicb.2023.1162963DOI Listing

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