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Leishmania genome dynamics during environmental adaptation reveals strain-specific differences in gene copy number variation, karyotype instability, and telomeric amplification

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  • Giovanni Bussotti
  • Evi Gouzelou
  • Mariana Cortes Boite
  • Ihcen Kherachi
  • Zoubir Harrat
  • Naouel Eddaikra
  • Maria Antoniou
  • Vasiliki Christodoulou
  • Aymen Bali
  • Fatma Z. Guerfali
  • Dhafer Laouini
  • Maowla Mukhtar
  • Franck Dumetz
  • Jean-Claude Dujardin
  • Despina Smirlis
  • Pierre Lechat
  • Pascale Pescher
  • Adil El Hamouchi
  • Meryem Lemrani
  • Carmen Chicharro
  • Ivonne Pamela Llanes-Acevedo
  • Laura Botana
  • Israel Cruz
  • Javier Moreno
  • Fakhri Jeddi
  • Karim Aoun
  • Aida Bouratbine
  • Elisa Cupolillo
  • Gerald F. Spath


Publication details

DateAccepted/In press - 18 Sep 2018
DatePublished (current) - 6 Nov 2018
Issue number6
Number of pages18
Original languageEnglish


Protozoan parasites of the genus Leishmania adapt to environmental change through chromosome and gene copy number variations. Only little is known on external or intrinsic factors that govern Leishmania genomic adaptation. Here, by conducting longitudinal genome analyses of ten new Leishmania clinical isolates, we uncovered important differences in gene copy number among genetically highly related strains and revealed gain and loss of gene copies as potential drivers of long-term environmental adaptation in the field. In contrast, chromosome rather than gene amplification was associated with short-term environmental adaptation to in vitro culture. Karyotypic solutions were highly reproducible but unique for a given strain, suggesting that chromosome amplification is under positive selection and dependent on species- and strain-specific, intrinsic factors. We revealed a progressive increase in read depth towards the chromosome ends for various Leishmania isolates, which may represent a non-classical mechanism of telomere maintenance that can preserve integrity of chromosome ends during selection for fast in vitro growth. Together our data draw a complex picture of Leishmania genomic adaptation in the field and in culture, which is driven by a combination of intrinsic genetic factors that generate strain-specific, phenotypic variations, which are under environmental selection and allow for fitness gain.

Bibliographical note

© 2018 Bussotti et al.

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