Genome wide analyses reveal the role of mutator phenotypes in Mycobacterium tuberculosis drug resistance emergence

Abstract Antimicrobial combination therapy is widely used to combat Mycobacterium tuberculosis (Mtb), yet resistance rates continue to rise. Mutator strains, with defects in DNA repair genes, drive resistance in other bacterial infections, but their role in Mtb remains unclear. Here, we study the co...

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Main Authors: R. Zein-Eddine, A. Le Meur, S. Skouloubris, L. Jelsbak, G. Refrégier, H. Myllykallio
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:npj Antimicrobials and Resistance
Online Access:https://doi.org/10.1038/s44259-025-00107-1
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author R. Zein-Eddine
A. Le Meur
S. Skouloubris
L. Jelsbak
G. Refrégier
H. Myllykallio
author_facet R. Zein-Eddine
A. Le Meur
S. Skouloubris
L. Jelsbak
G. Refrégier
H. Myllykallio
author_sort R. Zein-Eddine
collection DOAJ
description Abstract Antimicrobial combination therapy is widely used to combat Mycobacterium tuberculosis (Mtb), yet resistance rates continue to rise. Mutator strains, with defects in DNA repair genes, drive resistance in other bacterial infections, but their role in Mtb remains unclear. Here, we study the contribution of single nucleotide polymorphisms (SNPs) in DNA Repair, Replication, and Recombination (3 R) genes to Mtb resistance. Through large-scale bioinformatics analysis of 53,589 whole-genomes, we identified 18 novel SNPs in lineages 2 and 4 linked to genotypic drug resistance in 3 R genes, covering 12.5% of clinical isolates with available genome sequences. Notably, a number of the detected SNPs were positively selected during Mtb evolution. Experimental tests showed that mutM, fpgg2, xthA, and nucS mutants had increased the mutation frequency compared to the wild type. Our findings highlight the role of 3 R gene mutations in resistance, emphasizing the need for surveillance to improve early detection and control strategies.
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issn 2731-8745
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publishDate 2025-04-01
publisher Nature Portfolio
record_format Article
series npj Antimicrobials and Resistance
spelling doaj-art-dfa8e7da9644425898f866136191a6762025-08-20T02:55:24ZengNature Portfolionpj Antimicrobials and Resistance2731-87452025-04-013111010.1038/s44259-025-00107-1Genome wide analyses reveal the role of mutator phenotypes in Mycobacterium tuberculosis drug resistance emergenceR. Zein-Eddine0A. Le Meur1S. Skouloubris2L. Jelsbak3G. Refrégier4H. Myllykallio5Laboratoire d’Optique et Biosciences (LOB), Ecole Polytechnique, Inserm U1182, CNRS UMR7645, Institut Polytechnique de ParisLaboratoire d’Ecologie Systématique et Evolution, CNRS UMR8079, AgroParisTechLaboratoire d’Optique et Biosciences (LOB), Ecole Polytechnique, Inserm U1182, CNRS UMR7645, Institut Polytechnique de ParisDepartment of Biotechnology and Biomedicine, Technical University of DenmarkLaboratoire d’Ecologie Systématique et Evolution, CNRS UMR8079, AgroParisTechLaboratoire d’Optique et Biosciences (LOB), Ecole Polytechnique, Inserm U1182, CNRS UMR7645, Institut Polytechnique de ParisAbstract Antimicrobial combination therapy is widely used to combat Mycobacterium tuberculosis (Mtb), yet resistance rates continue to rise. Mutator strains, with defects in DNA repair genes, drive resistance in other bacterial infections, but their role in Mtb remains unclear. Here, we study the contribution of single nucleotide polymorphisms (SNPs) in DNA Repair, Replication, and Recombination (3 R) genes to Mtb resistance. Through large-scale bioinformatics analysis of 53,589 whole-genomes, we identified 18 novel SNPs in lineages 2 and 4 linked to genotypic drug resistance in 3 R genes, covering 12.5% of clinical isolates with available genome sequences. Notably, a number of the detected SNPs were positively selected during Mtb evolution. Experimental tests showed that mutM, fpgg2, xthA, and nucS mutants had increased the mutation frequency compared to the wild type. Our findings highlight the role of 3 R gene mutations in resistance, emphasizing the need for surveillance to improve early detection and control strategies.https://doi.org/10.1038/s44259-025-00107-1
spellingShingle R. Zein-Eddine
A. Le Meur
S. Skouloubris
L. Jelsbak
G. Refrégier
H. Myllykallio
Genome wide analyses reveal the role of mutator phenotypes in Mycobacterium tuberculosis drug resistance emergence
npj Antimicrobials and Resistance
title Genome wide analyses reveal the role of mutator phenotypes in Mycobacterium tuberculosis drug resistance emergence
title_full Genome wide analyses reveal the role of mutator phenotypes in Mycobacterium tuberculosis drug resistance emergence
title_fullStr Genome wide analyses reveal the role of mutator phenotypes in Mycobacterium tuberculosis drug resistance emergence
title_full_unstemmed Genome wide analyses reveal the role of mutator phenotypes in Mycobacterium tuberculosis drug resistance emergence
title_short Genome wide analyses reveal the role of mutator phenotypes in Mycobacterium tuberculosis drug resistance emergence
title_sort genome wide analyses reveal the role of mutator phenotypes in mycobacterium tuberculosis drug resistance emergence
url https://doi.org/10.1038/s44259-025-00107-1
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