Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements
- 1Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA;
- 2Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA;
- 3Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA;
- 4Howard Hughes Medical Institute, Boston, Massachusetts 02115, USA
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↵5 These authors contributed equally to this work.
Abstract
Recent genome sequencing studies have identified several classes of complex genomic rearrangements that appear to be derived from a single catastrophic event. These discoveries identify ways that genomes can be altered in single large jumps rather than by many incremental steps. Here we compare and contrast these phenomena and examine the evidence that they arise “all at once.” We consider the impact of massive chromosomal change for the development of diseases such as cancer and for evolution more generally. Finally, we summarize current models for underlying mechanisms and discuss strategies for testing these models.
Keywords
- chromothripsis
- chromoplexy
- chromoanasynthesis
- genome evolution
- cancer
- chromosomal translocation
- copy number alteration
Footnotes
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↵6 Corresponding author
E-mail david_pellman{at}dfci.harvard.edu
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Article is online at http://www.genesdev.org/cgi/doi/10.1101/gad.229559.113.
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