Chapter title |
Potential Role of Chromothripsis in the Genesis of Complex Chromosomal Rearrangements in Human Gametes and Preimplantation Embryo
|
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Chapter number | 3 |
Book title |
Chromothripsis
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Published in |
Methods in molecular biology, January 2018
|
DOI | 10.1007/978-1-4939-7780-2_3 |
Pubmed ID | |
Book ISBNs |
978-1-4939-7779-6, 978-1-4939-7780-2
|
Authors |
Franck Pellestor, Vincent Gatinois, Pellestor, Franck, Gatinois, Vincent |
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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Mendeley readers
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Researcher | 1 | 2% |
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Agricultural and Biological Sciences | 2 | 5% |
Medicine and Dentistry | 1 | 2% |
Unknown | 41 | 93% |