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

研究成果: Article査読

5 被引用数 (Scopus)

抄録

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.

本文言語English
論文番号55
ジャーナルMolecular Cytogenetics
7
1
DOI
出版ステータスPublished - 13-08-2014
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All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子医療
  • 分子生物学
  • 遺伝学
  • 遺伝学(臨床)
  • 生化学、医学

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