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Correlation between cis-acing elements and effects on inducing exon skipping

Research Project

Project/Area Number 23591496
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionKobe University

Principal Investigator

YAGI Mariko  神戸大学, 医学(系)研究科(研究院), 研究員 (60362787)

Co-Investigator(Kenkyū-buntansha) TAKESHIMA Yasuhiro  神戸大学, 大学院医学研究科, 教授 (40281141)
AWANO Hiroyuki  神戸大学, 大学院医学研究科, 特命助教 (30437470)
Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2011: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywordsスプライシング / 国際情報研究 / 国際情報交流
Research Abstract

Antisense oligonucleotides that induce exon skipping is now attracting much attention to express internally deleted-dystrophin in Duchenne muscular dystrophy(DMD). Previously, we identified antisense oligonucleotides(AO85) that could induce exon 45 skipping efficiently. We examined the ability of AO85 to induce exon 45 skipping and dystrophin expression in DMD patient-derived myocytes carrying different types of deletion mutations, as follows:exon 46-47, 46-48, 46-49, 46-51 or 46-53. The skipping efficiency was different from patients to patients. We identified the junction site of each patient with deletion mutation and examined the intronic splicing enhancers/silencers (ISEs/ISSs) in the junction site. In this study, we could not clarify the correlation between ISEs/ISSs in the junction site and exon 45 skipping efficiency.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (28 results)

All 2014 2013 2012 2011

All Journal Article (13 results) (of which Peer Reviewed: 13 results) Presentation (14 results) Book (1 results)

  • [Journal Article] A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy2014

    • Author(s)
      Dwianingsih EK, Malueka R, Nishida A, Lee T, Yagi M, Iijima K, Takeshima Y, Ito K, Matsuo M
    • Journal Title

      J Hum Genet

      Volume: (in press)

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.2014

    • Author(s)
      Ery Kus Dwianingsih, Rusdy Malueka, Atsuhiro Nishida, Tomoko Lee, Mariko Yagi, Kazumoto Iijima, Yasuhiro Takeshima, Kyoko Ito, Masafumi Matsuo.
    • Journal Title

      J Hum Genet.

      Volume: in press

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.2013

    • Author(s)
      Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, Iijima K.
    • Journal Title

      J Hum Genet.

      Volume: 59 Issue: 1 Pages: 46-51

    • DOI

      10.1038/jhg.2013.119

    • NAID

      40019946811

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old.2013

    • Author(s)
      Nakagawa T, Takeuchi A, Kakiuchi R, Lee T, Yagi M, Awano H, Iijima K, Takeshima Y, Urade Y, Matsuo M.
    • Journal Title

      Clin Chim Acta.

      Volume: 423 Pages: 10-14

    • DOI

      10.1016/j.cca.2013.03.031

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.2013

    • Author(s)
      Thu Tran TH, Zhang Z, Yagi M, Lee T, Awano H, Nishida A, Okinaga T, Takeshima Y, Matsuo M.
    • Journal Title

      J Hum Genet

      Volume: 58 Issue: 1 Pages: 33-39

    • DOI

      10.1038/jhg.2012.131

    • NAID

      10031145898

    • Related Report
      2013 Annual Research Report 2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers2012

    • Author(s)
      Rusdy Ghazali Malueka, Yutaka Takaoka, Mariko Yagi, Hiroyuki Awano, Tomoko Lee, Ery Kus Dwianingsih, Atsushi Nishida, Yasuhiro Takeshima, Masafumi Matsuo
    • Journal Title

      BMC Genetics

      Volume: 13(23) Issue: 1 Pages: 23-23

    • DOI

      10.1186/1471-2156-13-23

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Optimizing RNA/ENA chimeric antisense oligonucleotides using in vitro splicing.2012

    • Author(s)
      Takeshima Y, Yagi M, Matsuo M.
    • Journal Title

      Methods Mol Biol.

      Volume: 867 Pages: 131-141

    • DOI

      10.1007/978-1-61779-767-5_9

    • ISBN
      9781617797668, 9781617797675
    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations.2012

    • Author(s)
      Ota M, Takeshima Y, Nishida A, Awano H, Lee T, Yagi M, Matsuo M.
    • Journal Title

      Genet Test Mol Biomarkers.

      Volume: 16 Issue: 1 Pages: 3-8

    • DOI

      10.1089/gtmb.2010.0276

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.2012

    • Author(s)
      Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K
    • Journal Title

      Gene

      Volume: 512 Issue: 2 Pages: 456-459

    • DOI

      10.1016/j.gene.2012.10.060

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system2011

    • Author(s)
      Malueka RG, Yagi M, Awano H, Lee T, Dwianingsih EK, Nishida A, Takeshima Y, Matsuo M
    • Journal Title

      Nucleic Acid Ther

      Volume: 21(5) Issue: 5 Pages: 347-53

    • DOI

      10.1089/nat.2011.0310

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Chemical treatment enhances skipping of a mutated exon in the dystrophin gene2011

    • Author(s)
      Nishida A, Kataoka N, Takeshima Y,Yagi M, Awano, H, Ota, M, Itoh K, Hagiwara M, and Matsuo M
    • Journal Title

      Nat Commun

      Volume: 2 Issue: 1 Pages: 308-308

    • DOI

      10.1038/ncomms1306

    • NAID

      120003001398

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.2011

    • Author(s)
      Nishida A, Kataoka N,
    • Journal Title

      Nature Communications

      Volume: 2 Pages: 308-308

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system.2011

    • Author(s)
      Malueka RG
    • Journal Title

      Nucleic Acid Ther

      Volume: 21 Pages: 347-353

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Presentation] ジストロフィン遺伝子スプライシングコンセンサス配列内変異によるスプライシング型の変化に関わる因子の検討2013

    • Author(s)
      李知子、楠典子、八木麻理子、竹島泰弘、松尾雅文、飯島一誠
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      宮城県仙台市
    • Related Report
      2013 Final Research Report
  • [Presentation] ジストロフィン遺伝子スプライシングコンセンサス配列内変異によるスプライシング型の変化 に関わる因子の検討2013

    • Author(s)
      李知子、楠典子、八木麻理子、竹島泰弘、松尾雅文、飯島一誠、
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      宮城県仙台市
    • Related Report
      2013 Annual Research Report
  • [Presentation] A small chemical, TG003, enhances skipping of mutated dystrophin exons : the third example revealing a decrease of exonic splicing enhancer density in common2012

    • Author(s)
      Nishida A, Takeshima Y, Kataoka N, Yagi M, Awano H, Lee T, Iijima K, Hagiwara M, Matsuo M
    • Organizer
      The American Society of Human Genetics, the 62th Annual Meeting
    • Place of Presentation
      San Francisco
    • Related Report
      2013 Final Research Report
  • [Presentation] Duchenne/Becker型筋ジストロフィーにおけるジストロフィン遺伝子の微小変異の割合は増加傾向にある2012

    • Author(s)
      李知子、楠典子、粟野宏之、八木麻理子、竹島泰弘、松尾雅文、飯島一誠
    • Organizer
      日本人類遺伝学会57回大会
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] Dystrophin gene mutations in three dystrophinopathy patients with severe cardiomyopathy2012

    • Author(s)
      Awano H, Lee T, Yagi M, Takeshima Y, Matsuo M, Iijima K
    • Organizer
      Pediatric Academic Societies Annual Meeting
    • Place of Presentation
      Boston
    • Related Report
      2013 Final Research Report 2012 Research-status Report
  • [Presentation] A small chemical, TG003, enhances skipping of mutated dystrophin exons: the third example revealing a decrease of exonic splicing enhancer density in common.2012

    • Author(s)
      Nishida A, Takeshima Y, Kataoka N, Yagi M, Awano H, Lee T, Iijima K, Hagiwara M, Matsuo M.
    • Organizer
      The American Society of Human Genetics, the 62th Annual Meeting
    • Place of Presentation
      San Francisco
    • Related Report
      2012 Research-status Report
  • [Presentation] Duchenne/Becker型筋ジストロフィー兄弟例における心機能障害の検討2012

    • Author(s)
      李知子、粟野宏之、八木麻理子、竹島泰弘、松尾雅文、飯島一誠
    • Organizer
      第115回日本小児科学会学術集会
    • Place of Presentation
      福岡
    • Related Report
      2012 Research-status Report
  • [Presentation] Duchenne型筋ジストロフィーにおける尿プロスタグランディンD2代謝産物の排泄の増加2012

    • Author(s)
      中川卓、李知子、粟野宏之、八木麻理子、松尾雅文、竹島泰弘
    • Organizer
      第54回日本小児神経学会総会
    • Place of Presentation
      札幌
    • Related Report
      2012 Research-status Report
  • [Presentation] Duchenne/Becker型筋ジストロフィーにおけるジストロフィン遺伝子の微小変異の割合は増加傾向にある2012

    • Author(s)
      李知子、楠典子、粟野宏之、八木麻理子、竹島泰弘、松尾雅文、飯島一誠
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Related Report
      2012 Research-status Report
  • [Presentation] ベサフィブラートにより骨格筋症状が改善した極長鎖アシルCoA脱水素酵素欠損症の1例2012

    • Author(s)
      八木麻理子、楠典子、李知子、粟野宏之、但馬剛、小林弘典、長谷川有紀、山口清次、竹島泰弘、飯島一誠
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      岐阜
    • Related Report
      2012 Research-status Report
  • [Presentation] Antisense RNA/Ethylene-bridged nucleic acid chimera induces exon 45 skipping in cultured myocytes from DMD patients with 6 different deletion mutaions2011

    • Author(s)
      Yagi M, Lee T, Awano H, Takeshima Y, Matsuo M
    • Organizer
      The American Society of Human Genetics 61th Annual Meeting
    • Place of Presentation
      Montreal
    • Related Report
      2013 Final Research Report
  • [Presentation] ジストロフィン遺伝子エクソンスキッピングを誘導する低分子化合物の同定と治療への応用2011

    • Author(s)
      八木麻理子、李知子、粟野宏之、伊東恭子、竹島泰弘、松尾雅文
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Related Report
      2013 Final Research Report 2011 Research-status Report
  • [Presentation] Antisense RNA/Ethylene-bridged nucleic acid chimera induces exon 45 skipping in cultured myocytes from DMD patients with 6 different deletion mutaions.2011

    • Author(s)
      Yagi M,
    • Organizer
      The American Society of Human Genetics 61th Annual Meeting
    • Place of Presentation
      Montreal
    • Related Report
      2011 Research-status Report
  • [Presentation] MLPA法を用いたジストロフィン遺伝子解析のピットフォール2011

    • Author(s)
      粟野宏之
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Related Report
      2011 Research-status Report
  • [Book] Treatment of Duchenne muscular dystrophy by induction of exon skipping with antisense oligonucleotides In Fifty years of neuromuscular disorder research after discovery of creatine kinase as a diagnostic marker of muscular dystrophy.2011

    • Author(s)
      Matsuo M,
    • Publisher
      IGAKU-SHOIN
    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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