Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements

被引：172
|
作者：
Zhang, Cheng-Zhong [1 ]
Leibowitz, Mitchell L. [2 ,3 ]
Pellman, David [1 ,2 ,3 ,4 ]
机构：
[1] Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA
[2] Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA
[3] Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA
[4] Howard Hughes Med Inst, Boston, MA 02115 USA
来源：
GENES & DEVELOPMENT | 2013年 / 27卷 / 23期
基金：
美国国家科学基金会;
关键词：
chromothripsis; chromoplexy; chromoanasynthesis; genome evolution; cancer; chromosomal translocation; copy number lteration; TERT PROMOTER MUTATIONS; STRUCTURAL VARIATION; GENE AMPLIFICATION; DNA BREAKS; SOMATIC MUTATIONS; CLONAL EVOLUTION; CANCER; REPLICATION; MECHANISMS; INSTABILITY;
D O I：
10.1101/gad.229559.113
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
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.
引用
收藏
页码：2513 / 2530
页数：18
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