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
Citations
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Journal ArticleDOI
Chromosomal rearrangements in cancer: Detection and potential causal mechanisms
Paul Hasty,Cristina Montagna +1 more
TL;DR: Technological advances in methods used to detect simple and complex chromosomal rearrangements, cancers that exhibit these rearrangings, potential mechanisms for rearrangement of chromosomes, and intervention strategies designed specifically against fusion gene products and causal DNA repair/synthesis pathways are described.
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Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly.
F. Bianchi,Chiara Tocco,Gianmarco Pallavicini,Yifan Liu,Fiammetta Vernì,Chiara Merigliano,Silvia Bonaccorsi,Nadia El-Assawy,Lorenzo Priano,Marta Gai,Gaia Berto,Alessandra Maria Adelaide Chiotto,Francesco Sgrò,Alessia Caramello,Laura Tasca,Ugo Ala,Francesco Neri,Salvatore Oliviero,Alessandro Mauro,Stephan Geley,Maurizio Gatti,Ferdinando Di Cunto +21 more
TL;DR: It is shown that CITK loss induces DNA damage accumulation and chromosomal instability in both mammals and Drosophila, and in doubly CitK and Trp53 mutant mice, neural progenitor cell death is dramatically reduced and clinical and neuroanatomical phenotypes are remarkably improved.
Journal ArticleDOI
ShatterProof: operational detection and quantification of chromothripsis.
Shaylan K. Govind,Amin Zia,Pablo H. Hennings-Yeomans,John D. Watson,Michael Fraser,Catalina Anghel,Alexander W. Wyatt,Theodorus van der Kwast,Colin Collins,John Douglas Mcpherson,John Douglas Mcpherson,Robert G. Bristow,Robert G. Bristow,Paul C. Boutros,Paul C. Boutros +14 more
TL;DR: ShatterProof is computationally efficient, having low memory requirements and near linear computation time, allowing it to become a standard component of sequencing analysis pipelines, enabling researchers to routinely and accurately assess samples for chromothripsis.
Journal ArticleDOI
Chromosome-breakage genomic instability and chromothripsis in breast cancer
Ewa Przybytkowski,Elizabeth Lenkiewicz,Michael T. Barrett,Kathleen Oros Klein,Sheida Nabavi,Celia M. T. Greenwood,Celia M. T. Greenwood,Mark Basik +7 more
TL;DR: A novel approach to array CGH data analysis is presented, which focuses on putative breakpoints responsible for rearrangements within the genome, and reports a much higher percentage of chromothripsis than described previously in other cancers, which suggests that massive genomic rearrangement occurring in a single catastrophic event may shape many breast cancer genomes.
Journal ArticleDOI
Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas
Ralph Salloum,Melissa K. McConechy,Leonie G. Mikael,Christine Fuller,Rachid Drissi,Mariko DeWire,Hamid Nikbakht,Nicolas De Jay,Xiaodan Yang,Daniel R. Boue,Lionel M.L. Chow,Jonathan L. Finlay,Tenzin Gayden,Jason Karamchandani,Trent R. Hummel,Randal Olshefski,Diana S Osorio,Charles B. Stevenson,Claudia L. Kleinman,Claudia L. Kleinman,Jacek Majewski,Maryam Fouladi,Nada Jabado +22 more
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