期刊
CELL
卷 146, 期 6, 页码 888-902出版社
CELL PRESS
DOI: 10.1016/j.cell.2011.07.042
关键词
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资金
- National Institute of Neurological Disorders and Stroke, National Institutes of Health [R01 NS058529]
- National Institutes of General Medical Science [R01 GM064022]
- BCM IDDRC [P30HD024064]
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- LCRC from the Osteogenesis Imperfecta Foundation
- National Urea Cycle Disorders Foundation
- [DK081735-02]
Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions have been observed in genomic disorders. Recently, a chromosome catastrophe phenomenon termed chromothripsis, in which numerous genomic rearrangements are apparently acquired in one single catastrophic event, was described in multiple cancers. Here, we show that constitutionally acquired CGRs share similarities with cancer chromothripsis. In the 17 CGR cases investigated, we observed localization and multiple copy number changes including deletions, duplications, and/or triplications, as well as extensive translocations and inversions. Genomic rearrangements involved varied in size and complexities; in one case, array comparative genomic hybridization revealed 18 copy number changes. Breakpoint sequencing identified characteristic features, including small templated insertions at breakpoints and microhomology at breakpoint junctions, which have been attributed to replicative processes. The resemblance between CGR and chromothripsis suggests similar mechanistic underpinnings. Such chromosome catastrophic events appear to reflect basic DNA metabolism operative throughout an organism's life cycle.
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