DNA secondary structure drives chromosomal dynamics

2008 Fiscal Year Final Research Report

• Project/Area Number: 19390097
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Fujita Health University
• Principal Investigator: KURAHAS Hihiroki Fujita Health University, 総合医科学研究所, 教授 (30243215)
• Project Period (FY): 2007 – 2008
• Keywords: 染色体転座 / 切断点 / 回文配列 / パリンドローム / 十字架型DNA / 非B型DNA / 染色体再構成 / 染色体構造異常

Research Abstract

t(11 ; 22)転座は、現在知られている唯一の反復性の生殖細胞系列染色体転座である。転座保因者は無症状だが、無精子症、反復性流産、子の染色体不均衡による先天異常など、再生産に問題が生じる。本研究では、2つの転座切断点をそれぞれベクターに組み込み、細胞株に導入すると転座反応が起きる、という転座のモデル系を確立した。この転座反応は切断点の配列が特殊な立体構造をとったときのみ発生し、このDNAの立体構造の異常によりDNAが不安定になることが、繰り返し起こる染色体転座の原因であることを証明した。

Research Products

• [Journal Article] Two different forms of palindrome resolution in the human genome : deletion or translocation (2008)
  • Author(s): Kato, T., Inagaki, H., Kogo, H., Ohye, T., Yamada, K., Emanuel, B. S., Kurahashi, H.
  • Journal Title: Hum. Mol. Genet 17 Pages: 1184-1191
  • Peer Reviewed
• [Journal Article] Increased levels of pregnancy-associated plasma protein-A2 in the serum of pre-eclamptic patients (2008)
  • Author(s): Nishizawa, H., Pryor-Koishi, K., Suzuki, M., Kato, T., Kogo, H., Sekiya, T., Kurahashi, H., Udagawa, Y.
  • Journal Title: Mol. Hum. Reprod 14 Pages: 595-602
  • Peer Reviewed
• [Journal Article] Molecular clonong of a translocation hotspot in 22q11 (2007)
  • Author(s): Kurahashi, H., Inagaki, H., Hosoba. E., Kato, T., Ohye, T., Kogo, H., Emanuel, B. S.
  • Journal Title: Genome Res 17 Pages: 461-469
  • Peer Reviewed
• [Journal Article] Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype (2007)
  • Author(s): Kano, H., Kurahashi, H., Toda, T.
  • Journal Title: Proc. Natl. Acad. Sci. U.S.A. 104 Pages: 19034-19039
  • Peer Reviewed
• [Journal Article] Age has no effect on de novo constitutional t(11 ; 22) translocation frequency in sperm (2007)
  • Author(s): Kato, T., Yamada, K., Inagaki, H., Kogo, H., Ohye, T., Emanuel, B.S., Kurahashi, H.
  • Journal Title: Fertil Steril 88 Pages: 1446-1448
  • Peer Reviewed
• [Journal Article] Cruciform extrusion propensity of human translocationmediating palindromic AT-rich repeats (2007)
  • Author(s): Kogo, H., Inagaki, H., Ohye, T., Kato, T., Emanuel, B.S., Kurahashi, H.
  • Journal Title: Nucleic Acids Res 35 Pages: 1198-1208
  • Peer Reviewed
• [Journal Article] CDH1 is a specific marker for undifferentiated spermatogonia in mouse testes (2007)
  • Author(s): Tokuda, M., Kadokawa, Y., Kurahashi, H., Marunouchi, T.
  • Journal Title: Biol. Reprod. 76 Pages: 130-141
  • Peer Reviewed
• [Presentation] Mutations of the SYCP3 gene in women with recurrent pregnancy loss (2008)
  • Author(s): Kurahashi, H.
  • Organizer: 58th annual meeting of American Society of Human Genetics
  • Place of Presentation: Philadelphia, USA
  • Year and Date: 20081111-15
• [Presentation] Artemis cleaves cruciform-forming palindromic DNA leading to recurrent translocation in humans (2008)
  • Author(s): Inagaki, H., Ohye, T., Kogo, H., Kato, T., Tong, M., Tsutsumi, M., Emanuel., B. S., Kurahashi, H.
  • Organizer: 58th annual meeting of American Society of Human Genetics
  • Place of Presentation: Philadelphia, USA
  • Year and Date: 20081111-15
• [Presentation] Chromosomal instability mediated by non-B DNA : Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans. DNA Palindromes : Roles, consequences and implications of structurally ambivalent DNA (2008)
  • Author(s): Kurahashi, H.
  • Organizer: FASEB Summer Research Conferences
  • Place of Presentation: Saxtons River, USA
  • Year and Date: 20080706-11
• [Presentation] Possible post-meiotic origin of the constitutional t(11 ; 22) (2008)
  • Author(s): Kato, T., Inagaki, H., Kogo, H., Ohye, T., Yamada, K., Emanuel, B.S., Kurahashi, H.
  • Organizer: European Human Genetics Conference
  • Place of Presentation: Barcelona, Spain
  • Year and Date: 20080531-0603
• [Presentation] Possible post-meiotic origin of the constitutional t(11 ; 22) (2007)
  • Author(s): Kato, T., Inagaki, H., Kogo, H., Ohye, T., Tong, M., Emanuel, B. S., Kurahashi, H.
  • Organizer: 57th Annual Meeting of American Society of Human Genetics
  • Place of Presentation: San Diego, USA
  • Year and Date: 20071023-28
• [Presentation] DNA secondary structure-forming propensity dictates translocation frequency (2007)
  • Author(s): Kato, T., Inagaki, H., Kogo, H., Ohye, T., Yamada, K., Emanuel, B. S., Kurahashi, H.
  • Organizer: European Human Genetics Conference 2007
  • Place of Presentation: Nice, France
  • Year and Date: 20070616-19
• [Remarks] 報道関連情報中日新聞掲載2008年12月25日
• [Remarks] 報道関連情報NHKテレビ2008年12月25日
• [Remarks] 報道関連情報NHKラジオ2008年12月25日
• [Remarks] 報道関連情報朝日新聞掲載2009年1月9日