Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

Divya Mishra, Takema Kato, Hidehito Inagaki, Tomoki Kosho, Keiko Wakui, Yasuhiro Kido, Satoru Sakazume, Mariko Taniguchi-Ikeda, Naoya Morisada, Kazumoto Iijima, Yoshimitsu Fukushima, Beverly S. Emanuel, Hiroki Kurahashi

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article number55
JournalMolecular Cytogenetics
Volume7
Issue number1
DOIs
Publication statusPublished - 13-08-2014

Fingerprint

Chromosomes
Nucleotides
Alleles
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 8
Genetic Recombination
Sequence Analysis

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical

Cite this

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. In: Molecular Cytogenetics. 2014 ; Vol. 7, No. 1.
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abstract = "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.",
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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.

In: Molecular Cytogenetics, Vol. 7, No. 1, 55, 13.08.2014.

Research output: Contribution to journalArticle

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T1 - Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

AU - Mishra, Divya

AU - Kato, Takema

AU - Inagaki, Hidehito

AU - Kosho, Tomoki

AU - Wakui, Keiko

AU - Kido, Yasuhiro

AU - Sakazume, Satoru

AU - Taniguchi-Ikeda, Mariko

AU - Morisada, Naoya

AU - Iijima, Kazumoto

AU - Fukushima, Yoshimitsu

AU - Emanuel, Beverly S.

AU - Kurahashi, Hiroki

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Y1 - 2014/8/13

N2 - 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.

AB - 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.

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