FRA3B and the Palindromic AT-rich repeat

• 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
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: PATRR / 染色体転座 / パリンドローム / t(3;8)(p14;q24) / FRA3B / 染色体脆弱部位

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.

Research Products

• [Journal Article] Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation (2014)
  • Author(s): Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H
  • Journal Title: Mol Cytogenet Volume: 7 Issue: 1 Pages: 55-55
  • DOI: 10.1186/s13039-014-0055-x
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Prevalence of Emanuel syndrome: theoretical frequency and surveillance result (2014)
  • Author(s): Ohye T, Inagaki H, Kato T, Tsutsumi M, Kurahashi H
  • Journal Title: Pediatr Int Volume: 56 Issue: 4 Pages: 462-466
  • DOI: 10.1111/ped.12437
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Analysis of the t(3;8) of hereditary renal cell carcinoma: A palindrome mediated translocation (2014)
  • Author(s): Kato T, Franconi CP, Sheridan MB, Hacker AM, Inagakai H, Glover TW, Arlt MF, Drabkin HA, Gemmill RM, Kurahashi H, Emanuel BS
  • Journal Title: Cancer Genet Volume: 207 Issue: 4 Pages: 133-140
  • DOI: 10.1016/j.cancergen.2014.03.004
  • Peer Reviewed / Open Access
• [Journal Article] Age-related decrease of meiotic cohesins in human oocyte (2014)
  • Author(s): Tsutsumi M, Fujiwara R, Nishizawa H, Ito M, Kogo H, Inagaki H, Ohye T, Kato T, Fujii T, Kurahashi H
  • Journal Title: PLoS One Volume: 9, Issue: 5 Pages: 1-8
  • DOI: 10.1371/journal.pone.0096710
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations (2013)
  • Author(s): Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS, Kurahashi H
  • Journal Title: Nat Commun Volume: 4 Issue: 1 Pages: 1592-1592
  • DOI: 10.1038/ncomms2595
  • Peer Reviewed
• [Presentation] Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation (2014)
  • Author(s): 加藤武馬、Divya Mishra、稲垣秀人、 池田真理子、森貞直哉、飯島一誠、城戸康宏、坂爪悟、古庄知己、涌井敬子、福嶋義光、倉橋浩樹
  • Organizer: 第37回日本分子生物学会
  • Place of Presentation: パシフィコ横浜
  • Year and Date: 2014-11-25 – 2014-11-27
• [Presentation] Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation (2014)
  • Author(s): 加藤武馬、Divya Mishra、稲垣秀人、 池田真理子、森貞直哉、飯島一誠、城戸康宏、坂爪悟、古庄知己、涌井敬子、福嶋義光、倉橋浩樹
  • Organizer: 第59回日本人類遺伝学会 第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] ヒトゲノムに散在するパリンドローム配列の同定 (2014)
  • Author(s): 加藤武馬、稲垣秀人、大内雄矢、倉橋浩樹
  • Organizer: 新学術「ゲノム支援」拡大班会議
  • Place of Presentation: 神戸ポートピアホテル
  • Year and Date: 2014-08-20 – 2014-08-21
• [Presentation] t(8;22)(q24.1;q11.2)の2家系 (2014)
  • Author(s): 加藤武馬、Divya Mishra、稲垣秀人、大江瑞恵、堤真紀子、池田真理子、森貞直哉、飯島一誠、城戸康宏、坂爪悟、古庄知己、涌井敬子、福嶋義光、倉橋浩樹
  • Organizer: 第5回東海小児遺伝カンファレンス
  • Place of Presentation: 名古屋市立大学
• [Presentation] パリンドロームを介した染色体転座の発生メカニズムの解明 (2013)
  • Author(s): 加藤 武馬、稲垣 秀人、倉橋 浩樹
  • Organizer: 新学術「ゲノム支援」拡大班会議
  • Place of Presentation: 神戸ポートピアホテル
• [Presentation] FRA3B and the Palindromic AT-rich repeat (2013)
  • Author(s): Takema Kato, Molly B. Sheridan, April M. Hacker, Hidehito Inagakai, Thomas Glover, Sharon Plon, Harry Drabkin, Robert Gemmill, Beverly S. Emanuel, Hiroki Kurahashi
  • Organizer: 日本人類遺伝学会第58回大会
  • Place of Presentation: 仙台 江陽グランドホテル
• [Presentation] 染色体転座頻度と染色体間距離の因果関係 (2013)
  • Author(s): 加藤武馬、稲垣秀人、大江瑞恵、堤真紀子、倉橋浩樹
  • Organizer: 第36日本分子生物学会
  • Place of Presentation: 神戸ポートピアホテル
• [Presentation] 染色体脆弱部位FRA3Bとパリンドローム配列 (2013)
  • Author(s): 加藤武馬
  • Organizer: 第45回藤田学園医学会
  • Place of Presentation: 藤田保健衛生大学