ChromothripsisDB: a curated database of chromothripsis
 
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PubMed ID   23759584 Publish Date   2013 Jun
Journal   Cell Cycle Species  
Disease Type   Technology  
Title   Chromothripsis: Breakage-fusion-bridge over and over again
Authors   Carlos Oscar Sanchez Solorzano, Alberto Pascual-Montano, Ainhoa Sanchez de Diego, Carlos Martinez-A, Karel H.M. van Wely
Affiliation   Biocomputation Group; Centro Nacional de Biotecnologia-CSIC; Madrid, Spain
Chromothripsis Definition   Close-by breakpoints: NA
Copy number states: NA
Fragments random joining: NA
Abstract   The acquisition of massive but localized chromosome translocations, a phenomenon termed chromothripsis, has received widespread attention since its discovery over a year ago. Until recently, chromothripsis was believed to originate from a single catastrophic event, but the molecular mechanisms leading to this event are yet to be uncovered. Because a thorough interpretation of the data are missing, the phenomenon itself has wrongly acquired the status of a mechanism used to justify many kinds of complex rearrangements. Although the assumption that all translocations in chromothripsisoriginate from a single event has met with criticism, satisfactory explanations for the intense but localized nature of this phenomenon are still missing. Here, we show why the data used to describe massive catastrophic rearrangements are incompatible with a model comprising a single event only and propose a molecular mechanism in which a combination of known cellular pathways accounts for chromothripsis. Instead of a single traumatic event, the protection of undamaged chromosomes by telomeres can limit repetitive breakage-fusion-bridge events to a single chromosome arm. Ultimately, common properties of chromosomal instability, such as aneuploidy and centromere fission, might establish the complex genetic pattern observed in this genomic state.
 
 
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