Breakpoint analysis of the recurrent constitutional t8;22q24.13;q11.21 translocationReportar como inadecuado

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Molecular Cytogenetics

, 7:55

First Online: 13 August 2014Received: 11 June 2014Accepted: 25 July 2014


BackgroundsThe t8;22q24.13;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 t11;22q23;q11.2, the breakpoint region on 8q24 has not been elucidated in detail since the analysis of palindromic sequence is technically challenging.

ResultsIn 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 t8;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 der22 sequences shows identical breakpoint junctions between them, which likely represent products of two independent events on the basis of a classical model.

ConclusionsOur 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.

KeywordsPATRR t8;22 Palindrome-mediated translocation Supernumerary der8t8;22 Electronic supplementary materialThe online version of this article doi:10.1186-s13039-014-0055-x contains supplementary material, which is available to authorized users.

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Autor: Divya Mishra - Takema Kato - Hidehito Inagaki - Tomoki Kosho - Keiko Wakui - Yasuhiro Kido - Satoru Sakazume - Mariko Tani


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