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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From Mutational Mechanisms in Single Cells to Mutational Patterns in Cancer Genomes.
Cheng-Zhong Zhang,David Pellman +1 more
TL;DR: Recent progress in the study of mutational mechanisms with a particular emphasis on the analysis of mutagenesis at the single-cell level is discussed.
Journal ArticleDOI
Of Simple and Complex Genome Rearrangements, Chromothripsis, Chromoanasynthesis, and Chromosome Chaos.
TL;DR: This work has shown that in cultured tumor cells, treatments with drugs such as doxorubicin and mitomycin C result in massive chromosome fragmentation and cell death, and the surviving cells show “chaotic” karyotypes in which numerous fragments from several chromosomes at once are stitched together by nonhomologous end joining (NHEJ) in a seemingly random process.
Journal ArticleDOI
A rare example of germ-line chromothripsis resulting in large genomic imbalance
TL;DR: It is proposed that this is a rare example of constitutional chromothripsis in association with relatively large genomic imbalances and that these have been tolerated in this case as they have occurred in a female on the X chromosome, which has undergone preferential X inactivation.
Journal ArticleDOI
Focal amplifications are associated with chromothripsis events and diverse prognoses in gastric cardia adenocarcinoma.
Zhao Xueke,Pengwei Xing,Xin Song,Miao Zhao,Linxuan Zhao,Yonglong Dang,Lei Lingling,Xu Ruihua,Han Wenli,Wang Panpan,Yang Miaomiao,Jing-Feng Hu,Kan Zhong,Zhou Fuyou,Han Xuena,Meng Chaolong,Ji Jiajia,Xingqi Chen,Li-Dong Wang +18 more
TL;DR: Wang et al. as mentioned in this paper identify frequent focal amplifications and extrachromosomal DNA (ecDNAs) in Chinese GCA patient samples, and find focal amplification in the GCA cohort are associated with the chromothripsis process and may be induced by accumulated DNA damage due to local dietary habits.
Journal ArticleDOI
Spatiotemporal control of estrogen-responsive transcription in ERα-positive breast cancer cells
Pei-Yin Hsu,Hang-Kai Hsu,Tzu-Hung Hsiao,Zhenqing Ye,Exing Wang,A. L. Profit,Ismail Jatoi,Yi Chen,Nameer B. Kirma,Victor X. Jin,Zelton D Sharp,Hui-ming Huang +11 more
TL;DR: Findings reveal a formerly uncharacterized feature wherein multiple copies of the amplicon congregate as transcriptional units in the nucleus for synchronous regulation of function-related loci in tumorigenesis, a new strategy for treating breast cancers and other malignancies.
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