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

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 e...

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Autores principales: Koltsova, Alla S., Pendina, Anna A., Efimova, Olga A., Chiryaeva, Olga G., Kuznetzova, Tatyana V., Baranov, Vladislav S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503150/
https://www.ncbi.nlm.nih.gov/pubmed/31114609
http://dx.doi.org/10.3389/fgene.2019.00393
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author Koltsova, Alla S.
Pendina, Anna A.
Efimova, Olga A.
Chiryaeva, Olga G.
Kuznetzova, Tatyana V.
Baranov, Vladislav S.
author_facet Koltsova, Alla S.
Pendina, Anna A.
Efimova, Olga A.
Chiryaeva, Olga G.
Kuznetzova, Tatyana V.
Baranov, Vladislav S.
author_sort Koltsova, Alla S.
collection PubMed
description 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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spelling pubmed-65031502019-05-21 On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update Koltsova, Alla S. Pendina, Anna A. Efimova, Olga A. Chiryaeva, Olga G. Kuznetzova, Tatyana V. Baranov, Vladislav S. Front Genet Genetics 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. Frontiers Media S.A. 2019-04-30 /pmc/articles/PMC6503150/ /pubmed/31114609 http://dx.doi.org/10.3389/fgene.2019.00393 Text en Copyright © 2019 Koltsova, Pendina, Efimova, Chiryaeva, Kuznetzova and Baranov. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Koltsova, Alla S.
Pendina, Anna A.
Efimova, Olga A.
Chiryaeva, Olga G.
Kuznetzova, Tatyana V.
Baranov, Vladislav S.
On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
title On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
title_full On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
title_fullStr On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
title_full_unstemmed On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
title_short On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
title_sort on the complexity of mechanisms and consequences of chromothripsis: an update
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503150/
https://www.ncbi.nlm.nih.gov/pubmed/31114609
http://dx.doi.org/10.3389/fgene.2019.00393
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