On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update

On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update Научная публикация

Журнал

Frontiers in Genetics
ISSN: 1664-8021

Вых. Данные

Год: 2019, Том: 10, DOI: 10.3389/fgene.2019.00393

Авторы

Koltsova Alla S. ^1,2 , Pendina Anna A. ¹ , Efimova Olga A. ¹ , Chiryaeva Olga G. ¹ , Kuznetzova Tatyana V. ¹ , Baranov Vladislav S. ^1,2

Организации

1	D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia
2	Department of Genetics and Biotechnology, Saint Petersburg State University, Saint Petersburg, Russia

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.

Koltsova A.S. , Pendina A.A. , Efimova O.A. , Chiryaeva O.G. , Kuznetzova T.V. , Baranov V.S.
On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
Frontiers in Genetics. 2019. V.10. DOI: 10.3389/fgene.2019.00393 WOS OpenAlex

Web of science:	WOS:000466531300001
OpenAlex:	W2942642794

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