FRA3B and the Palindromic AT-rich repeat

2014 Fiscal Year Final Research Report

• Project/Area Number: 25860256
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human genetics
• Research Institution: Fujita Health University
• Principal Investigator: KATO Takema 藤田保健衛生大学, 総合医科学研究所, 助教 (20387690)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: PATRR / 染色体転座 / パリンドローム

Outline of Final Research Achievements

In this study, we identified novel palindrome-mediated translocations with the t(3;8)(p14;q24) and t(8;22)(q24;q11). Detailed sequence analysis of both junction breakpoints have been resolved by next generation sequencing. To predict the mechanism of translocation generation, derivative sequences were aligned to entire palindrome sequences. The translocation junction is often accompanied by symmetric deletions at the center of both palindrome sequences. Rejoining occurs with minimal homology between the translocation partners. Remarkably, comparison of both derivative sequences shows identical breakpoint junctions between them, which likely represent products of two independent events on the basis of a classical model. 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.

Free Research Field

細胞遺伝学