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Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation
BACKGROUNDS: The t(8;22)(q24.13;q11.2) has been identified as one of several recurrent constitutional translocations mediated by palindromic AT-rich repeats (PATRRs). Although the breakage on 22q11 utilizes the same PATRR as that of the more prevalent constitutional t(11;22)(q23;q11.2), the breakpoi...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255720/ https://www.ncbi.nlm.nih.gov/pubmed/25478009 http://dx.doi.org/10.1186/s13039-014-0055-x |
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author | Mishra, Divya Kato, Takema Inagaki, Hidehito Kosho, Tomoki Wakui, Keiko Kido, Yasuhiro Sakazume, Satoru Taniguchi-Ikeda, Mariko Morisada, Naoya Iijima, Kazumoto Fukushima, Yoshimitsu Emanuel, Beverly S Kurahashi, Hiroki |
author_facet | Mishra, Divya Kato, Takema Inagaki, Hidehito Kosho, Tomoki Wakui, Keiko Kido, Yasuhiro Sakazume, Satoru Taniguchi-Ikeda, Mariko Morisada, Naoya Iijima, Kazumoto Fukushima, Yoshimitsu Emanuel, Beverly S Kurahashi, Hiroki |
author_sort | Mishra, Divya |
collection | PubMed |
description | BACKGROUNDS: The t(8;22)(q24.13;q11.2) has been identified as one of several recurrent constitutional translocations mediated by palindromic AT-rich repeats (PATRRs). Although the breakage on 22q11 utilizes the same PATRR as that of the more prevalent constitutional t(11;22)(q23;q11.2), the breakpoint region on 8q24 has not been elucidated in detail since the analysis of palindromic sequence is technically challenging. RESULTS: In this study, the entire 8q24 breakpoint region has been resolved by next generation sequencing. Eight polymorphic alleles were identified and compared with the junction sequences of previous and two recently identified t(8;22) cases . All of the breakpoints were found to be within the PATRRs on chromosomes 8 and 22 (PATRR8 and PATRR22), but the locations were different among cases at the level of nucleotide resolution. The translocations were always found to arise on symmetric PATRR8 alleles with breakpoints at the center of symmetry. The translocation junction is often accompanied by symmetric deletions at the center of both PATRRs. Rejoining occurs with minimal homology between the translocation partners. Remarkably, comparison of der (8) to der(22) sequences shows identical breakpoint junctions between them, which likely represent products of two independent events on the basis of a classical model. CONCLUSIONS: Our data suggest the hypothesis that interactions between the two PATRRs prior to the translocation event might trigger illegitimate recombination resulting in the recurrent palindrome-mediated translocation. |
format | Online Article Text |
id | pubmed-4255720 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-42557202014-12-05 Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation Mishra, Divya Kato, Takema Inagaki, Hidehito Kosho, Tomoki Wakui, Keiko Kido, Yasuhiro Sakazume, Satoru Taniguchi-Ikeda, Mariko Morisada, Naoya Iijima, Kazumoto Fukushima, Yoshimitsu Emanuel, Beverly S Kurahashi, Hiroki Mol Cytogenet Research BACKGROUNDS: The t(8;22)(q24.13;q11.2) has been identified as one of several recurrent constitutional translocations mediated by palindromic AT-rich repeats (PATRRs). Although the breakage on 22q11 utilizes the same PATRR as that of the more prevalent constitutional t(11;22)(q23;q11.2), the breakpoint region on 8q24 has not been elucidated in detail since the analysis of palindromic sequence is technically challenging. RESULTS: In this study, the entire 8q24 breakpoint region has been resolved by next generation sequencing. Eight polymorphic alleles were identified and compared with the junction sequences of previous and two recently identified t(8;22) cases . All of the breakpoints were found to be within the PATRRs on chromosomes 8 and 22 (PATRR8 and PATRR22), but the locations were different among cases at the level of nucleotide resolution. The translocations were always found to arise on symmetric PATRR8 alleles with breakpoints at the center of symmetry. The translocation junction is often accompanied by symmetric deletions at the center of both PATRRs. Rejoining occurs with minimal homology between the translocation partners. Remarkably, comparison of der (8) to der(22) sequences shows identical breakpoint junctions between them, which likely represent products of two independent events on the basis of a classical model. CONCLUSIONS: Our data suggest the hypothesis that interactions between the two PATRRs prior to the translocation event might trigger illegitimate recombination resulting in the recurrent palindrome-mediated translocation. BioMed Central 2014-08-13 /pmc/articles/PMC4255720/ /pubmed/25478009 http://dx.doi.org/10.1186/s13039-014-0055-x Text en Copyright © 2014 Mishra et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Mishra, Divya Kato, Takema Inagaki, Hidehito Kosho, Tomoki Wakui, Keiko Kido, Yasuhiro Sakazume, Satoru Taniguchi-Ikeda, Mariko Morisada, Naoya Iijima, Kazumoto Fukushima, Yoshimitsu Emanuel, Beverly S Kurahashi, Hiroki Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation |
title | Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21)
translocation |
title_full | Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21)
translocation |
title_fullStr | Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21)
translocation |
title_full_unstemmed | Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21)
translocation |
title_short | Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21)
translocation |
title_sort | breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21)
translocation |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255720/ https://www.ncbi.nlm.nih.gov/pubmed/25478009 http://dx.doi.org/10.1186/s13039-014-0055-x |
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