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Chromothripsis, a credible chromosomal mechanism in evolutionary process

  • Franck Pellestor
  • Vincent Gatinois


The recent discovery of a new class of massive chromosomal rearrangements, occurring during one unique cellular event and baptized “chromothripsis,” deeply modifies our perception on the genesis of complex genomic rearrangements, but also, it raises the question of the potential driving role of chromothripsis in species evolution. Analyses of the etiology of chromothripsis have led to the identification of various cellular processes capable of generating chromothripsis, such as premature chromosome condensation, telomere dysfunction, abortive apoptosis, and micronucleus formation. All these causative mechanisms may occur in germlines or during early embryonic development, suggesting that chromothripsis could be an unexpected mechanism for profound genome modification. The occurrence of chromothripsis appears to be in good agreement with macroevolution models proposed as a complement to phyletic gradualism. Various cases of chromosomal speciation and short-term adaptation could be correlated to chromothripsis-mediated mechanism. The emergency of this unanticipated chaotic phenomenon may contribute to demonstrate the contribution of chromosome rearrangements to speciation process. New sequencing and bioinformatics methods can be expected to shed new light on the role of chromothripsis in evolutionary process.


Chromothripsis Chromosomal rearrangements Macroevolution Speciation Adaptation 



Work in the unit of Chromosomal Genetics is supported by the CHU research platform CHROMOSTEM (


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© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Unit of Chromosomal Genetics, Department of Medical GeneticsArnaud de Villeneuve Hospital, Montpellier CHRUMontpellier CEDEX 5France
  2. 2.INSERM 1183 “Genome and Stem Cell Plasticity in Development and Aging,” St Eloi HospitalInstitute of Regenerative Medicine and BiotherapiesMontpellierFrance

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