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Single-molecule nanopore sequencing reveals extreme target copy number heterogeneity in arylomycin-resistant mutants

Hany S. Girgis, Cory D. DuPai, Jessica Lund, Janina Reeder, Joseph Guillory, Steffen Durinck, Yuxin Liang, Joshua S. Kaminker, Peter A. Smith, Elizabeth Skippington

2020Proceedings of the National Academy of Sciences32 citationsDOIOpen Access PDF

Abstract

Significance Genetic heterogeneity is a significant driver of antibiotic resistance in bacteria. Understanding copy number (CN) heterogeneity is important because minority subclones with increased CN can drive resistance during antibiotic exposure, but revert and escape detection during clinical susceptibility testing. Despite its clinical relevance, CN variation has eluded quantification at single-molecule resolution. Here, we report nanopore sequencing of arylomycin-resistant mutants carrying tandem repeats ranging in size from 4.8 to 50.0 kb and encompassing the arylomycin target gene lepB . Reads spanning individual repeat arrays show vast differences in CN, underscoring the importance of amplifications in driving the emergence of genetic heterogeneity. This is a direct observation of cell-to-cell CN differences in an antibiotic-resistant bacterial population.

Topics & Concepts

BiologyGeneticsNanopore sequencingMutantGenetic heterogeneityAntibiotic resistancePopulationCopy-number variationGeneBacterial geneticsBacteriaDNA sequencingPhenotypeGenomeEscherichia coliSociologyDemographyMycobacterium research and diagnosisBacterial Identification and Susceptibility TestingGenomics and Phylogenetic Studies