Chromosomal Rearrangements and Chromothripsis: The Alternative End Generation Model

Chromothripsis defines a genetic phenomenon where up to hundreds of clustered chromosomal rearrangements can arise in a single catastrophic event. The phenomenon is associated with cancer and congenital diseases. Most current models on the origin of chromothripsis suggest that prior to chromatin res...

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Vydáno v:International journal of molecular sciences Ročník 24; číslo 1; s. 794
Hlavní autoři: de Groot, Daniel, Spanjaard, Aldo, Hogenbirk, Marc A., Jacobs, Heinz
Médium: Journal Article
Jazyk:angličtina
Vydáno: Switzerland MDPI 02.01.2023
Témata:
Chromatin
Chromosome Aberrations
Chromothripsis
DNA - genetics
DNA Breaks, Double-Stranded
Humans
Review
DNA double-strand break repair
chromosomal rearrangements
Alternative End Joining (AEJ)
Alternative End Generation (AEG)
chromothripsis
ISSN:1422-0067, 1422-0067
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Shrnutí:Chromothripsis defines a genetic phenomenon where up to hundreds of clustered chromosomal rearrangements can arise in a single catastrophic event. The phenomenon is associated with cancer and congenital diseases. Most current models on the origin of chromothripsis suggest that prior to chromatin reshuffling numerous DNA double-strand breaks (DSBs) have to exist, i.e., chromosomal shattering precedes rearrangements. However, the preference of a DNA end to rearrange in a proximal accessible region led us to propose chromothripsis as the reaction product of successive chromatin rearrangements. We previously coined this process Alternative End Generation (AEG), where a single DSB with a repair-blocking end initiates a domino effect of rearrangements. Accordingly, chromothripsis is the end product of this domino reaction taking place in a single catastrophic event.
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ISSN:1422-0067
1422-0067
DOI:10.3390/ijms24010794