Chromothripsis—Explosion in Genetic Science

Chromothripsis has been defined as complex patterns of alternating genes copy number changes (normal, gain or loss) along the length of a chromosome or chromosome segment (International System for Human Cytogenomic Nomenclature 2020). The phenomenon of chromothripsis was discovered in 2011 and chang...

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Main Authors:	Mariia Shorokhova, Nikolay Nikolsky, Tatiana Grinchuk
Format:	Article
Language:	English
Published:	MDPI AG 2021-05-01
Series:	Cells
Subjects:	chromothripsis chromosomal instability micronuclei cancer transformation
Online Access:	https://www.mdpi.com/2073-4409/10/5/1102

id	doaj-47941da2345347adb4b13cd1c4465c13
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spelling	doaj-47941da2345347adb4b13cd1c4465c132021-05-31T23:11:23ZengMDPI AGCells2073-44092021-05-01101102110210.3390/cells10051102Chromothripsis—Explosion in Genetic ScienceMariia Shorokhova0Nikolay Nikolsky1Tatiana Grinchuk2Department of Intracellular Signaling and Transport, Institute of Cytology, Russian Academy of Sciences, Tikhoretskay Ave 4, 194064 St. Petersburg, RussiaDepartment of Intracellular Signaling and Transport, Institute of Cytology, Russian Academy of Sciences, Tikhoretskay Ave 4, 194064 St. Petersburg, RussiaDepartment of Intracellular Signaling and Transport, Institute of Cytology, Russian Academy of Sciences, Tikhoretskay Ave 4, 194064 St. Petersburg, RussiaChromothripsis has been defined as complex patterns of alternating genes copy number changes (normal, gain or loss) along the length of a chromosome or chromosome segment (International System for Human Cytogenomic Nomenclature 2020). The phenomenon of chromothripsis was discovered in 2011 and changed the concept of genome variability, mechanisms of oncogenic transformation, and hereditary diseases. This review describes the phenomenon of chromothripsis, its prevalence in genomes, the mechanisms underlying this phenomenon, and methods of its detection. Due to the fact that most often the phenomenon of chromothripsis occurs in cancer cells, in this review, we will separately discuss the issue of the contribution of chromothripsis to the process of oncogenesis.https://www.mdpi.com/2073-4409/10/5/1102chromothripsischromosomal instabilitymicronucleicancertransformation
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Mariia Shorokhova Nikolay Nikolsky Tatiana Grinchuk
spellingShingle	Mariia Shorokhova Nikolay Nikolsky Tatiana Grinchuk Chromothripsis—Explosion in Genetic Science Cells chromothripsis chromosomal instability micronuclei cancer transformation
author_facet	Mariia Shorokhova Nikolay Nikolsky Tatiana Grinchuk
author_sort	Mariia Shorokhova
title	Chromothripsis—Explosion in Genetic Science
title_short	Chromothripsis—Explosion in Genetic Science
title_full	Chromothripsis—Explosion in Genetic Science
title_fullStr	Chromothripsis—Explosion in Genetic Science
title_full_unstemmed	Chromothripsis—Explosion in Genetic Science
title_sort	chromothripsis—explosion in genetic science
publisher	MDPI AG
series	Cells
issn	2073-4409
publishDate	2021-05-01
description	Chromothripsis has been defined as complex patterns of alternating genes copy number changes (normal, gain or loss) along the length of a chromosome or chromosome segment (International System for Human Cytogenomic Nomenclature 2020). The phenomenon of chromothripsis was discovered in 2011 and changed the concept of genome variability, mechanisms of oncogenic transformation, and hereditary diseases. This review describes the phenomenon of chromothripsis, its prevalence in genomes, the mechanisms underlying this phenomenon, and methods of its detection. Due to the fact that most often the phenomenon of chromothripsis occurs in cancer cells, in this review, we will separately discuss the issue of the contribution of chromothripsis to the process of oncogenesis.
topic	chromothripsis chromosomal instability micronuclei cancer transformation
url	https://www.mdpi.com/2073-4409/10/5/1102
work_keys_str_mv	AT mariiashorokhova chromothripsisexplosioningeneticscience AT nikolaynikolsky chromothripsisexplosioningeneticscience AT tatianagrinchuk chromothripsisexplosioningeneticscience
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Chromothripsis—Explosion in Genetic Science

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