@article{Cleal01052019,
author = {Cleal, Kez and Jones, Rhiannon E. and Grimstead, Julia W. and Hendrickson, Eric A. and Baird, Duncan M.}, 
title = {Chromothripsis during telomere crisis is independent of NHEJ, and consistent with a replicative origin},
volume = {29}, 
number = {5}, 
pages = {737-749}, 
year = {2019}, 
doi = {10.1101/gr.240705.118}, 
abstract ={Telomere erosion, dysfunction, and fusion can lead to a state of cellular crisis characterized by large-scale genome instability. We investigated the impact of a telomere-driven crisis on the structural integrity of the genome by undertaking whole-genome sequence analyses of clonal populations of cells that had escaped crisis. Quantification of large-scale structural variants revealed patterns of rearrangement consistent with chromothripsis but formed in the absence of functional nonhomologous end-joining pathways. Rearrangements frequently consisted of short fragments with complex mutational patterns, with a repair topology that deviated from randomness showing preferential repair to local regions or exchange between specific loci. We find evidence of telomere involvement with an enrichment of fold-back inversions demarcating clusters of rearrangements. Our data suggest that chromothriptic rearrangements caused by a telomere crisis arise via a replicative repair process involving template switching.}, 
URL = {http://genome.cshlp.org/content/29/5/737.abstract}, 
eprint = {http://genome.cshlp.org/content/29/5/737.full.pdf+html}, 
journal = {Genome Research} 
}