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Genes Dev DOI:10.1101/gad.229559.113

Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements.

Publication TypeJournal Article
Year of Publication2013
AuthorsZhang, C-Z, Leibowitz, ML, Pellman, D
JournalGenes Dev
Date Published2013 Dec 01
KeywordsChromosome Aberrations, Evolution, Molecular, Gene Rearrangement, Genome, Human, Genomic Instability, Humans

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.


Alternate JournalGenes Dev.
PubMed ID24298051
PubMed Central IDPMC3861665
Grant ListGM083299 / GM / NIGMS NIH HHS / United States
U24CA143867 / CA / NCI NIH HHS / United States
/ / Howard Hughes Medical Institute / United States
R01 GM083299 / GM / NIGMS NIH HHS / United States
U24 CA143867 / CA / NCI NIH HHS / United States