Abstract
In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of chromothripsis detection and its distinction from other chromoanagenesis events. Along with already known causes and mechanisms, we introduce aberrant epigenetic regulation as a possible pathway to chromothripsis. We address the issue of chromothripsis characteristics in cancers and benign tumours, as well as chromothripsis inheritance in cases of its occurrence in germ cells, zygotes and early embryos. Summarising the presented data on different phenotypic effect of chromothripsis, we assume that its consequences are most likely determined not by the chromosome shattering and reassembly themselves, but by the genome regions involved in the rearrangement.
Highlights
Complex chromosomal rearrangements have been found since introduction of cytogenetic techniques
Complex chromosomal translocations were given the definition that currently extends to the term “complex chromosomal rearrangement (CCR)”: complex chromosomal translocations involve more than a reciprocal exchange of segments between two chromosomes resulting in multiple derivative chromosomes (Pai et al, 1980)
The Monte-Carlo simulation method, which includes repeated random sampling and is traditionally used in stochastic process research, has established that the chromosome pulverisation model, which implies an absence of duplications, more accurately matches the genome alterations observed in chromothripsis
Summary
Complex chromosomal rearrangements have been found since introduction of cytogenetic techniques. The Monte-Carlo simulation method, which includes repeated random sampling and is traditionally used in stochastic process research, has established that the chromosome pulverisation model, which implies an absence of duplications, more accurately matches the genome alterations observed in chromothripsis These data have given rise to an assumption that chromothripsis is the result of a single catastrophic event (Stephens et al, 2011). Microarray results have revealed that the karyotype of 17 patients with various developmental problems featured deletions and multiple duplications and triplications, which could not have arisen as a result of NHEJ (Liu et al, 2011) This enabled the authors to hypothesise that such copy number alterations may result from replication and repair errors caused by DNA microhomology (MMBIR, microhomology-mediated break-induced replication; MMIR, microhomology/microsatellite-induced replication) (Payen et al, 2008; Hastings et al, 2009). These results do not debunk the traditional hypothesis of the origins of chromothripsis but only emphasise the need for further research
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