期刊
FRONTIERS IN GENETICS
卷 10, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2019.00393
关键词
chromothripsis; complex chromosomal rearrangements; epigenetics; cancer; benign tumour; chromosome pulverisation; constitutional chromothripsis
资金
- Russian Science Foundation [18-75-10046]
- Ministry of Science and Higher Education of the Russian Federation in 2019-2021 [AAAA-A19-119021290033-1]
- Russian Science Foundation [18-75-10046] Funding Source: Russian Science Foundation
In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of chromothripsis detection and its distinction from other chromoanagenesis events. Along with already known causes and mechanisms, we introduce aberrant epigenetic regulation as a possible pathway to chromothripsis. We address the issue of chromothripsis characteristics in cancers and benign tumours, as well as chromothripsis inheritance in cases of its occurrence in germ cells, zygotes and early embryos. Summarising the presented data on different phenotypic effect of chromothripsis, we assume that its consequences are most likely determined not by the chromosome shattering and reassembly themselves, but by the genome regions involved in the rearrangement.
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