Making heads or tails of shattered chromosomes

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Science  12 Jun 2015:
Vol. 348, Issue 6240, pp. 1205-1206
DOI: 10.1126/science.aac5277

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The human genome is subject to continuous change as a result of spontaneous DNA mutation. Most of the genetic changes are harmless, but occasionally they can disturb normal cell functioning and lead to cancer or congenital diseases. Much of the novel genetic variation that arises in human genomes affects only one or a few nucleotides. However, catastrophic changes of genome structure, termed chromothripsis, can produce a dramatic reorganization of DNA on one or even several chromosomes. A recent study by Zhang et al. (1) has now revealed a molecular mechanism that causes chromothripsis.