Academic Journal

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

التفاصيل البيبلوغرافية
العنوان: On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
المؤلفون: Alla S. Koltsova, Anna A. Pendina, Olga A. Efimova, Olga G. Chiryaeva, Tatyana V. Kuznetzova, Vladislav S. Baranov
المصدر: Frontiers in Genetics, Vol 10 (2019)
بيانات النشر: Frontiers Media S.A., 2019.
سنة النشر: 2019
المجموعة: LCC:Genetics
مصطلحات موضوعية: chromothripsis, complex chromosomal rearrangements, epigenetics, cancer, benign tumour, chromosome pulverisation, Genetics, QH426-470
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1664-8021
Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00393/full; https://doaj.org/toc/1664-8021
DOI: 10.3389/fgene.2019.00393
URL الوصول: https://doaj.org/article/c5c92e643dbf4fee95f40ee11471aa24
رقم الانضمام: edsdoj.5c92e643dbf4fee95f40ee11471aa24
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:16648021
DOI:10.3389/fgene.2019.00393