Chromothripsis and Kataegis Induced by Telomere Crisis
Open accessAbstract
Telomere crisis occurs during tumorigenesis when depletion of the telomere reserve leads to frequent telomere fusions. The resulting dicentric chromosomes have been proposed to drive genome instability. Here, we examine the fate of dicentric human chromosomes in telomere crisis. We observed that dicentric chromosomes invariably persisted through mitosis and developed into 50-200 μm chromatin bridges connecting the daughter cells. Before their resolution at 3-20 hr after anaphase, the chromatin bridges induced nuclear envelope rupture in interphase, accumulated the cytoplasmic 3' nuclease TREX1, and developed RPA-coated single stranded (ss) DNA. CRISPR knockouts showed that TREX1 contributed to the generation of the ssDNA and the resolution of the chromatin bridges. Post-crisis clones showed chromothripsis and kataegis, presumably resulting from DNA repair and APOBEC editing of the fragmented chromatin bridge DNA. We propose that chromothripsis in human cancer may arise through TREX1-mediated fragmentation of dicentric chromosomes formed in telomere crisis.
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Chromothripsis induced by experimental telomere crisis is often accompanied by kataegis.
“Chromothripsis induced by experimental telomere crisis is often accompanied by kataegis (FIG. 5c).”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [3]
Kataegis is found at the breakpoints of chromothriptic rearrangements created by telomere crisis, consistent with APOBEC activity.
“Consistent with APOBEC activity, kataegis is found at the breakpoints of chromothriptic rearrangements created by telomere crisis3.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [3]
Chromothripsis was demonstrated to result from telomere crisis induced by inactivation of TRF2 in p53-deficient and RB-deficient epithelial cells.
“Consistent with these associations, chromothripsis was demonstrated to be the result of telomere crisis induced by the inactivation of the shelterin subunit TRF2 in p53-deficient and RB-deficient epithelial cells3.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [3]
Live-cell imaging showed that dicentric chromosomes formed during telomere crisis do not break during mitosis.
“This study used live-cell imaging to determine the fate of dicentric chromosomes formed during telomere crisis and showed that dicentric chromosomes do not break during mitosis.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [3]
The repertoire of genomic alterations attributable to telomere crisis is more extensive and includes whole-genome reduplication, chromothripsis, and kataegis.
“However, it has recently become clear that the repertoire of genomic alterations that can be ascribed to telomere crisis is more extensive and includes whole-genome reduplication, chromothripsis and kataegis3,8,9.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [3]
TREX1 creates extensive single-stranded DNA in chromatin bridges, leading to accumulation of RPA on the bridges.
“The exonuclease creates extensive single-stranded DNA in chromatin bridges, leading to an accumulation of the single-stranded DNA-binding protein replication protein A (RPA) on the bridges (FIG. 5b).”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [3]
Dicentric chromosomes persist through mitosis and form long chromatin bridges that connect daughter cells into the next G1 phase.
“These dicentric chromosomes invariably persist through mitosis and form long chromatin bridges that connect the daughter cells well into the next G1 phase3.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [3]
A fused chromosome with two centromeres can break during cytokinesis or persist as a bridge between daughter nuclei after anaphase.
“where a fused chromosome with two centromeres can either break during cytokinesis or persist and form a bridge between two newly forming nuclei after anaphase (Liu et al., 2014; Maciejowski et al., 2015).”
From Cytoplasmic DNA: sources, sensing, and role in aging and disease (2021) · cites this paper as Maciejowski et al., 2015
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- Authors
- Maciejowski, J., Li, Y., Bosco, N., Campbell, P. J., & de Lange, T.
- Affiliations
- Rockefeller University (US)
- Wellcome Sanger Institute (GB)
- Corresponding author
- Campbell, Peter J.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2015-12
- Volume
- 163
- Issue
- 7
- Pages
- 1641-1654
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC4687025
- OpenAlex
- W2197269124
- Cited by
- 675
- References
- 67
- Citations by year
- 2026: 39 · 2025: 47 · 2024: 61 · 2023: 57 · 2022: 60 · 2021: 98 · 2020: 82 · 2019: 58 · 2018: 67 · 2017: 56 · 2016: 45 · 2015: 4
- FWCI
- 41.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- American Cancer Society
- Breast Cancer Research Foundation
- Jane Coffin Childs Memorial Fund for Medical Research
- Memorial Sloan-Kettering Cancer Center
- Wellcome Trust (077012/Z/05/Z, 103858, WT088340MA)
- National Institutes of Health
- National Cancer Institute (R01CA181090, P30CA008748)
- Topics
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Microtubule and mitosis dynamics
- Keywords
- chromothripsis, kataegis, telomere crisis, dicentric chromosomes, chromatin bridges, TREX1, APOBEC mutagenesis, single-stranded DNA, genomic instability, telomere fusion, DNA repair, nuclear envelope rupture
- MeSH terms
- Chromosome Aberrations, Chromosomes, Human, DNA, Single-Stranded, Exodeoxyribonucleases, Humans, Mitosis, Neoplasms, Nuclear Envelope, Phosphoproteins, Telomere, Genomic Instability, Chromosomal Instability, Cytokinesis
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