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Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All o...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511381/ https://www.ncbi.nlm.nih.gov/pubmed/37615740 http://dx.doi.org/10.1007/s00439-023-02591-9 |
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author | Sugimoto, Takeshi Inagaki, Hidehito Mariya, Tasuku Kawamura, Rie Taniguchi-Ikeda, Mariko Mizuno, Seiji Muramatsu, Yukako Tsuge, Ikuya Ohashi, Hirofumi Saito, Nakamichi Hasegawa, Yuiko Ochi, Nobuhiko Yamaguchi, Masatoshi Murotsuki, Jun Kurahashi, Hiroki |
author_facet | Sugimoto, Takeshi Inagaki, Hidehito Mariya, Tasuku Kawamura, Rie Taniguchi-Ikeda, Mariko Mizuno, Seiji Muramatsu, Yukako Tsuge, Ikuya Ohashi, Hirofumi Saito, Nakamichi Hasegawa, Yuiko Ochi, Nobuhiko Yamaguchi, Masatoshi Murotsuki, Jun Kurahashi, Hiroki |
author_sort | Sugimoto, Takeshi |
collection | PubMed |
description | Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00439-023-02591-9. |
format | Online Article Text |
id | pubmed-10511381 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-105113812023-09-22 Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm Sugimoto, Takeshi Inagaki, Hidehito Mariya, Tasuku Kawamura, Rie Taniguchi-Ikeda, Mariko Mizuno, Seiji Muramatsu, Yukako Tsuge, Ikuya Ohashi, Hirofumi Saito, Nakamichi Hasegawa, Yuiko Ochi, Nobuhiko Yamaguchi, Masatoshi Murotsuki, Jun Kurahashi, Hiroki Hum Genet Original Investigation Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00439-023-02591-9. Springer Berlin Heidelberg 2023-08-24 2023 /pmc/articles/PMC10511381/ /pubmed/37615740 http://dx.doi.org/10.1007/s00439-023-02591-9 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Original Investigation Sugimoto, Takeshi Inagaki, Hidehito Mariya, Tasuku Kawamura, Rie Taniguchi-Ikeda, Mariko Mizuno, Seiji Muramatsu, Yukako Tsuge, Ikuya Ohashi, Hirofumi Saito, Nakamichi Hasegawa, Yuiko Ochi, Nobuhiko Yamaguchi, Masatoshi Murotsuki, Jun Kurahashi, Hiroki Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm |
title | Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm |
title_full | Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm |
title_fullStr | Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm |
title_full_unstemmed | Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm |
title_short | Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm |
title_sort | breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of dna from mature sperm |
topic | Original Investigation |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511381/ https://www.ncbi.nlm.nih.gov/pubmed/37615740 http://dx.doi.org/10.1007/s00439-023-02591-9 |
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