Chromothripsis pp 197-208 | Cite as

Detection of Impaired DNA Replication and Repair in Micronuclei as Indicators of Genomic Instability and Chromothripsis

  • Mariona Terradas
  • Marta Martín
  • Anna Genescà
Part of the Methods in Molecular Biology book series (MIMB, volume 1769)


The physical isolation of chromosomes within micronuclei offers an attractive mechanistic explanation for the local DNA fragmentation and clustered genome rearrangements that characterize chromothripsis. Localized shattering of the chromatin confined in micronuclei can be a consequence of defects in micronuclei basic general functions, such as DNA replication and repair. The detection of DNA repair and replication defects in micronuclei is described here, as well as the analysis of chromosome breakage and inaccurate reassembly of broken segments in the daughter cells, as indirect methods to detect chromothripsis.

Key words

Micronuclei Chromothripsis DNA fragmentation Chromosome rearrangements 


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Cell Biology Unit, Department of Cell Biology, Physiology and ImmunologyBiosciences School, Universitat Autònoma de BarcelonaBellaterraSpain
  2. 2.Hereditary Cancer ProgramCatalan Institute of Oncology IDIBELL, Hospitalet de LlobregatBarcelonaSpain

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