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Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations
Large-scale analysis of balanced chromosomal translocation breakpoints has shown nonhomologous end joining and microhomology-mediated repair to be the main drivers of interchromosomal structural aberrations. Breakpoint sequences of de novo unbalanced translocations have not yet been investigated sys...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589530/ https://www.ncbi.nlm.nih.gov/pubmed/23212949 http://dx.doi.org/10.1101/gr.145631.112 |
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author | Robberecht, Caroline Voet, Thierry Esteki, Masoud Zamani Nowakowska, Beata A. Vermeesch, Joris R. |
author_facet | Robberecht, Caroline Voet, Thierry Esteki, Masoud Zamani Nowakowska, Beata A. Vermeesch, Joris R. |
author_sort | Robberecht, Caroline |
collection | PubMed |
description | Large-scale analysis of balanced chromosomal translocation breakpoints has shown nonhomologous end joining and microhomology-mediated repair to be the main drivers of interchromosomal structural aberrations. Breakpoint sequences of de novo unbalanced translocations have not yet been investigated systematically. We analyzed 12 de novo unbalanced translocations and mapped the breakpoints in nine. Surprisingly, in contrast to balanced translocations, we identify nonallelic homologous recombination (NAHR) between (retro)transposable elements and especially long interspersed elements (LINEs) as the main mutational mechanism. This finding shows yet another involvement of (retro)transposons in genomic rearrangements and exposes a profoundly different mutational mechanism compared with balanced chromosomal translocations. Furthermore, we show the existence of compound maternal/paternal derivative chromosomes, reinforcing the hypothesis that human cleavage stage embryogenesis is a cradle of chromosomal rearrangements. |
format | Online Article Text |
id | pubmed-3589530 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Cold Spring Harbor Laboratory Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-35895302013-09-01 Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations Robberecht, Caroline Voet, Thierry Esteki, Masoud Zamani Nowakowska, Beata A. Vermeesch, Joris R. Genome Res Research Large-scale analysis of balanced chromosomal translocation breakpoints has shown nonhomologous end joining and microhomology-mediated repair to be the main drivers of interchromosomal structural aberrations. Breakpoint sequences of de novo unbalanced translocations have not yet been investigated systematically. We analyzed 12 de novo unbalanced translocations and mapped the breakpoints in nine. Surprisingly, in contrast to balanced translocations, we identify nonallelic homologous recombination (NAHR) between (retro)transposable elements and especially long interspersed elements (LINEs) as the main mutational mechanism. This finding shows yet another involvement of (retro)transposons in genomic rearrangements and exposes a profoundly different mutational mechanism compared with balanced chromosomal translocations. Furthermore, we show the existence of compound maternal/paternal derivative chromosomes, reinforcing the hypothesis that human cleavage stage embryogenesis is a cradle of chromosomal rearrangements. Cold Spring Harbor Laboratory Press 2013-03 /pmc/articles/PMC3589530/ /pubmed/23212949 http://dx.doi.org/10.1101/gr.145631.112 Text en © 2013, Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/3.0/ This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported License), as described at http://creativecommons.org/licenses/by-nc/3.0/. |
spellingShingle | Research Robberecht, Caroline Voet, Thierry Esteki, Masoud Zamani Nowakowska, Beata A. Vermeesch, Joris R. Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations |
title | Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations |
title_full | Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations |
title_fullStr | Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations |
title_full_unstemmed | Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations |
title_short | Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations |
title_sort | nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589530/ https://www.ncbi.nlm.nih.gov/pubmed/23212949 http://dx.doi.org/10.1101/gr.145631.112 |
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