Chromothripsis pp 119-132 | Cite as

Detection of Chromothripsis in Plants

  • Isabelle M. Henry
  • Luca Comai
  • Ek Han Tan
Part of the Methods in Molecular Biology book series (MIMB, volume 1769)


Chromothripsis, or chromosome shattering, occurs after chromosomes missegregate, are pulverized and subsequently repaired erroneously, leading to highly complex structural rearrangements. In plants, chromothripsis has been observed as a result of mitotic malfunction connected with the incomplete loss of haploid inducer chromosomes during uniparental genome elimination. Uniparental genome elimination, a process that results in haploid induction, is a phenomenon that typically results in the loss of an entire parental chromosome set in early embryos, resulting in haploid plants. In Arabidopsis thaliana, genome elimination can be achieved via the manipulation of the centromere-specific histone H3 variant, CENH3. Genomic characterization of F1 progeny resulting from CENH3-mediated genome elimination crosses in Arabidopsis revealed haploids (~39%), diploids (~25%), and aneuploids (~37%). Within the aneuploid class, ~11% show evidence for chromothripsis. Here, we present a protocol to identify Arabidopsis aneuploids that have inherited chromothriptic chromosomes during genome elimination crosses and describe in detail how to perform in silico reconstructions for individuals with chromothripsis using the somatic mutation finder (SMuFin) tool.

Key words

CENP-A Chromatin Haploid induction Epigenetics Genome instability Embryonic development Chromosome missegregation Aneuploidy 


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Copyright information

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

Authors and Affiliations

  1. 1.Genome Center & Department of Plant BiologyUniversity of CaliforniaDavisUSA
  2. 2.School of Biology and EcologyUniversity of MaineOronoUSA

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