Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements
TLDR
The impact of massive chromosomal change for the development of diseases such as cancer and for evolution more generally is considered and current models for underlying mechanisms are summarized.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.read more
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References
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Characterization at nucleotide resolution of the homogeneously staining region sites of insertion in two cancer cell lines
TL;DR: The sequences of the junctions indicate that homologous recombination was not involved in their formation and support a non-homologous end-joining process, which is the first characterization of an intrachromosomal amplification site at nucleotide resolution.
Posted Content
Modelling Breakage-Fusion-Bridge Cycles as a Stochastic Paper Folding Process
TL;DR: In this article, a 2-d tree-based representation of the space with 2-D trees is proposed to study the evolution of breakage-fusion-bridge structures in detail.
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