Chromosomal instability mediated by non-B DNA: Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans

Hidehito Inagaki, Tamae Ohye, Hiroshi Kogo, Takema Kato, Hasbaira Bolor, Mariko Taniguchi, Tamim H. Shaikh, Beverly S. Emanuel, Hiroki Kurahashi

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53 Citations (Scopus)


Chromosomal aberrations have been thought to be random events. However, recent findings introduce a new paradigm in which certain DNA segments have the potential to adopt unusual conformations that lead to genomic instability and nonrandom chromosomal rearrangement. One of the best-studied examples is the palindromic AT-rich repeat (PATRR), which induces recurrent constitutional translocations in humans. Here, we established a plasmid-based model that promotes frequent intermolecular rearrangements between two PATRRs in HEK293 cells. In this model system, the proportion of PATRR plasmid that extrudes a cruciform structure correlates to the levels of rearrangement. Our data suggest that PATRR-mediated translocations are attributable to unusual DNA conformations that confer a common pathway for chromosomal rearrangements in humans.

Original languageEnglish
Pages (from-to)191-198
Number of pages8
JournalGenome Research
Issue number2
Publication statusPublished - 01-02-2009


All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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