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
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References
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Mechanisms for recurrent and complex human genomic rearrangements.
TL;DR: Progress is described in explaining nonallelic homologous recombination (NAHR), a major cause of copy number change occurring when control of allelic recombination fails, the growing importance of replicative mechanisms to explain complex events, and progress in understanding extreme chromosome reorganization (chromothripsis).
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The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line
Andrew Adey,Joshua N. Burton,Jacob O. Kitzman,Joseph B. Hiatt,Alexandra P. Lewis,Beth Martin,Ruolan Qiu,Choli Lee,Jay Shendure +8 more
TL;DR: Haplotype resolution facilitated reconstruction of an amplified, highly rearranged region of chromosome 8q24 at which integration of the human papilloma virus type 18 (HPV-18) genome occurred and that is likely to be the event that initiated tumorigenesis.
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Abrogation of oncogene-associated apoptosis allows transformation of p53-deficient cells.
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Journal ArticleDOI
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
Wigard P. Kloosterman,Victor Guryev,Mark van Roosmalen,Karen Duran,Ewart de Bruijn,Saskia C.M. Bakker,Tom G.W. Letteboer,Bernadette P M van Nesselrooij,Ron Hochstenbach,Martin Poot,Edwin Cuppen +10 more
TL;DR: The pattern of random joining of chromosomal fragments that is observed here strongly resembles the somatic rearrangement patterns--termed chromothripsis--that have recently been described in deranged cancer cells and it is concluded that a similar mechanism may also drive the formation of de novo structural variation in the germline.
Journal ArticleDOI
Characterization of uterine leiomyomas by whole-genome sequencing.
Miika Mehine,Eevi Kaasinen,Netta Mäkinen,Riku Katainen,Kati Kämpjärvi,Esa Pitkänen,Hanna-Riikka Heinonen,Ralf Bützow,Outi Kilpivaara,Anna Kuosmanen,Heikki Ristolainen,Massimiliano Gentile,Jari Sjöberg,Pia Vahteristo,Lauri A. Aaltonen +14 more
TL;DR: Chromosome shattering and reassembly resembling chromothripsis is a major cause of chromosomal abnormalities in uterine leiomyomas and it is proposed that tumorigenesis occurs when tissue-specific tumor-promoting changes are formed through these events.
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