Volume 522 Issue 7555, 11 June 2015

Volume 522 Issue 7555

‘Dis-assembly�, Daniel Kohn’s interpretation of a chromothripsis event from his series ‘Thinking about Science � DataSets�. Chromothripsis, a dramatic chromosomal event involving massive chromosome breakage and rearrangement, typically restricted to one or a few of a cell’s chromosomes, has been observed in various cancers and congenital diseases. A new study uses a combination of live-cell imaging and single-cell genome sequencing to recreate chromothripsis-like rearrangements. The results show that after single chromosomes are missegregated into so-called micronuclei, they can shatter. After cell division, these fragments can be incorporated back into the genome, generating rearrangements that in some cases bear all the hallmark features of chromothripsis. Chromosome shattering in micronuclei can also lead to the formation of small circular chromosome fragments, the initial step in forming ‘double minute chromosomes�, which carry amplified oncogenes in cancer. This study thus provides the first experimental demonstration of a molecular mechanism underlying chromothripsis. Cover art by Daniel Kohn, http://www.kohnworkshop.com/

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