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Review
. 2022 Mar 19;23(6):3318.
doi: 10.3390/ijms23063318.

Insight into the Molecular Basis Underlying Chromothripsis

Katarzyna Ostapińska  1 , Borys Styka  2 , Monika Lejman  2
Affiliations
Review

Insight into the Molecular Basis Underlying Chromothripsis

Katarzyna Ostapińska et al. Int J Mol Sci. .

Abstract

Chromoanagenesis constitutes a group of events that arise from single cellular events during early development. This particular class of complex rearrangements is a newfound occurrence that may lead to chaotic and complex genomic realignments. By that, chromoanagenesis is thought to be a crucial factor regarding macroevolution of the genome, and consequently is affecting the karyotype revolution together with genomic plasticity. One of chromoanagenesis-type of events is chromothripsis. It is characterised by the breakage of the chromosomal structure and its reassembling in random order and orientation which results in the establishment of derivative forms of chromosomes. Molecular mechanisms that underlie this phenomenon are mostly related to chromosomal sequestration throughout the micronuclei formation process. Chromothripsis is linked both to congenital and cancer diseases, moreover, it might be detected in subjects characterised by a normal phenotype. Chromothripsis, as well as the other chromoanagenetic variations, may be confined to one or more chromosomes, which makes up a non-uniform variety of karyotypes among chromothriptic patients. The detection of chromothripsis is enabled via tools like microarray-based comparative genomic hybridisation, next generation sequencing or authorial protocols aimed for the recognition of structural variations.

Keywords: TP53; cancer; chromoanagenesis; chromoanasynthesis; chromothripsis; gene alterations.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Schematic overview of three chromosomal types of catastrophic events, known as chromoanagenesis.
Figure 2
Figure 2
Prevalence of chromothripsis analysed by WGS in different disease entities, according to Rode et al. [37].
See this image and copyright information in PMC

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