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Potential Role of Chromothripsis in the Genesis of Complex Chromosomal Rearrangements in Human Gametes and Preimplantation Embryo

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Chromothripsis

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1769))

Abstract

The discovery of a new class of massive chromosomal rearrangement, baptized chromothripsis, in different cancers and congenital disorders has deeply modified our understanding on the genesis of complex genomic rearrangements. Several mechanisms, involving abortive apoptosis, telomere erosion, mitotic errors, micronuclei formation, and p53 inactivation, might cause chromothripsis. The remarkable point is that all these plausible mechanisms have been identified in the field of human reproduction as causal factors for reproductive failures and chromosomal abnormality genesis. Specific features of gametogenesis and early embryonic development may contribute to the emergence of chromothripsis. Multiple lines of evidence support the assumption that chromothripsis may arise more frequently than previously thought in both gametogenesis and early human embryogenesis.

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Acknowledgments

Work in the unit of Chromosomal Genetics is supported by the CHU research platform ChromoStem (http://www.chu-montpellier.fr/fr/chercheurs/plateformes/les-plateformes-recherche/chromostem/).

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Authors and Affiliations

  1. Unit of Chromosomal Genetics, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier CHRU, Montpellier, France

    Franck Pellestor & Vincent Gatinois

  2. INSERM U1183 Unit “Genome and Stem Cell Plasticity in Development and Ageing”, Institute for Regenerative Medicine and Biotherapy, St Eloi Hospital, Montpellier, France

    Franck Pellestor & Vincent Gatinois

Authors
  1. Franck Pellestor
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  2. Vincent Gatinois
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Corresponding author

Correspondence to Franck Pellestor .

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Editors and Affiliations

  1. Unit of Chromosomal Genetics, Department of Medical Genetics, CHU Montpellier, Montpellier, Hérault, France

    Franck Pellestor

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Pellestor, F., Gatinois, V. (2018). Potential Role of Chromothripsis in the Genesis of Complex Chromosomal Rearrangements in Human Gametes and Preimplantation Embryo. In: Pellestor, F. (eds) Chromothripsis. Methods in Molecular Biology, vol 1769. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7780-2_3

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  • DOI: https://doi.org/10.1007/978-1-4939-7780-2_3

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-7779-6

  • Online ISBN: 978-1-4939-7780-2

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