Chromothripsis during telomere crisis is independent of NHEJ, and consistent with a replicative origin.
作者： Kez Cleal , Rhiannon E. Jones , Julia W. Grimstead , Eric A. Hendrickson , Duncan M. Baird
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摘要: Telomere erosion, dysfunction, and fusion can lead to a state of cellular crisis characterized by large-scale genome instability. We investigated the impact telomere-driven on structural integrity undertaking whole-genome sequence analyses clonal populations cells that had escaped crisis. Quantification variants revealed patterns rearrangement consistent with chromothripsis but formed in absence functional nonhomologous end-joining pathways. Rearrangements frequently consisted short fragments complex mutational patterns, repair topology deviated from randomness showing preferential local regions or exchange between specific loci. find evidence telomere involvement an enrichment fold-back inversions demarcating clusters rearrangements. Our data suggest chromothriptic rearrangements caused arise via replicative process involving template switching.
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