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Ribosomal abnormalities and human diseases: Molecular pathogenesis of ribosomopathies

Research Project

Project/Area Number 22370065
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Molecular biology
Research InstitutionUniversity of Miyazaki

Principal Investigator

KENMOCHI Naoya  宮崎大学, フロンティア科学実験総合センター, 教授 (00133124)

Co-Investigator(Renkei-kenkyūsha) SUZUKI Tsutomu  東京大学, 工学研究科, 教授 (20292782)
TAKAYANAGI Atsushi  慶應義塾大学, 医学部, 講師 (80245464)
Project Period (FY) 2010-04-01 – 2013-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥18,720,000 (Direct Cost: ¥14,400,000、Indirect Cost: ¥4,320,000)
Fiscal Year 2012: ¥6,110,000 (Direct Cost: ¥4,700,000、Indirect Cost: ¥1,410,000)
Fiscal Year 2011: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
Fiscal Year 2010: ¥6,110,000 (Direct Cost: ¥4,700,000、Indirect Cost: ¥1,410,000)
Keywords翻訳 / リボソーム / 造血異常 / 発がん / ゼブラフィッシュ / 核小体 / p53 / リボソーム病 / 疾患モデル
Research Abstract

The ribosome, as the protein synthesis machinery, is essential to all organisms. Recently, it became clear that ribosomal abnormalities cause pleiotropic effects that may manifest as specific disease conditions in humans called ribosomopathies. To investigate the molecular pathogenesis of ribosomopathies, we developed zebrafish models of the diseases and found important factors that may link to the disease pathogenesis. In addition, we also developed databases that serve as a basis for the study of ribosomopathies.

Report

(4 results)
  • 2013 Final Research Report ( PDF )
  • 2012 Annual Research Report
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (56 results)

All 2014 2013 2012 2011 2010 Other

All Journal Article (16 results) (of which Peer Reviewed: 11 results) Presentation (26 results) (of which Invited: 1 results) Book (2 results) Remarks (10 results) Patent(Industrial Property Rights) (2 results)

  • [Journal Article] Ribosomal protein deficiency causes Tp53-independent erythropoiesis failure in zebrafish2014

    • Author(s)
      Yadav V.G., Chakraborty A., Uechi T., and Kenmochi N.
    • Journal Title

      Int. J. Biochem. Cell Biol.

      Volume: 49 Pages: 1-7

    • DOI

      10.1016/j.biocel.2014.01.006

    • Related Report
      2013 Final Research Report 2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] snOPY : a small nucleolar RNA orthological gene database2013

    • Author(s)
      Yoshihama M., Nakao A., and Kenmochi N.
    • Journal Title

      BMC Research Notes

      Volume: 6 Issue: 1 Pages: 426-426

    • DOI

      10.1186/1756-0500-6-426

    • Related Report
      2013 Final Research Report 2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A detection method for intronic snoRNA genes using extended- weight-updating SOM with appearance probability of bases2013

    • Author(s)
      Yamamori K., Matsuo T., Iwakiri J., Kenmochi N., and Yoshihara I.
    • Journal Title

      Artificial Life and Robotics

      Volume: 17 Issue: 3-4 Pages: 405-411

    • DOI

      10.1007/s10015-012-0072-y

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] リボソーム病-リボソーム合成の異常と疾患-2013

    • Author(s)
      剣持直哉
    • Journal Title

      生化学(リボソームの機能調節と疾患)

      Volume: 85 Pages: 909-915

    • Related Report
      2013 Final Research Report
  • [Journal Article] リボソーム病ーリボソーム合成の異常と疾患ー2013

    • Author(s)
      剣持 直哉
    • Journal Title

      生化学

      Volume: 85(10) Pages: 909-919

    • Related Report
      2012 Annual Research Report
  • [Journal Article] リボソームタンパク質と翻訳制御2012

    • Author(s)
      上地珠代, 剣持直哉
    • Journal Title

      生体の科学(細胞の分子構造と機能-核以外の細胞小器官)

      Volume: 63 Pages: 362-363

    • Related Report
      2013 Final Research Report
  • [Journal Article] Dissecting the protein-RNA interface : the role of protein surface shapes and RNA secondary structures in protein-RNA recognition2012

    • Author(s)
      Iwakiri J., Tateishi H., Chakraborty A., Patil P., and Kenmochi N.
    • Journal Title

      Nucleic Acids Res.

      Volume: 40 Issue: 8 Pages: 3299-3306

    • DOI

      10.1093/nar/gkr1225

    • Related Report
      2013 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Loss of ribosomal RNA modification causes developmental defects in zebrafish2011

    • Author(s)
      Higa-Nakamine S, Suzuki T (第2著者) 他7名
    • Journal Title

      Nucleic Acids Research

      Volume: 40 Issue: 1 Pages: 391-398

    • DOI

      10.1093/nar/gkr700

    • Related Report
      2013 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The NPC motif of aquaporin-11, unlike the NPA motif of known aquaporins, is essential for full expression of molecular function2011

    • Author(s)
      Ikeda M, Andoo A, Shimono M, Takamatsu N, Taki A, Muta K, Matsushita W, Uechi T, Matsuzaki T, Kenmochi N, Takata K, Sasaki S, Ito K, Ishibashi K.
    • Journal Title

      J Biol Chem

      Volume: 286 Issue: 5 Pages: 3342-3350

    • DOI

      10.1074/jbc.m110.180968

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Erythropoiesis failure due to RPS19 deficiency is independent of an activated p53 response in a zebrafish model of Diamond-Blackfan anaemia2011

    • Author(s)
      Torihara H., Uechi U., Chakraborty A., Shinya M., Sakai N., and Kenmochi N.
    • Journal Title

      Brit. J. Haematol.

      Volume: 152 Issue: 5 Pages: 648-654

    • DOI

      10.1111/j.1365-2141.2010.08535.x

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Guarding the 'translation apparatus': defective ribosome biogenesis and the p53 signaling pathway2011

    • Author(s)
      Chakraborty A., Uechi T., and Kenmochi N.
    • Journal Title

      Wiley Interdiscip Rev RNA

      Volume: 2 Issue: 4 Pages: 507-522

    • DOI

      10.1002/wrna.73

    • Related Report
      2013 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] リボソーム病と経路2011

    • Author(s)
      剣持直哉
    • Journal Title

      医学のあゆみ(RNA医学・医療)

      Volume: 238 Pages: 476-480

    • Related Report
      2013 Final Research Report
  • [Journal Article] リボソーム病とp53経路2011

    • Author(s)
      剣持直哉
    • Journal Title

      医学のあゆみ:RNA医学・医療

      Volume: 238 Pages: 476-480

    • Related Report
      2011 Annual Research Report
  • [Journal Article] Erythropoiesis failure due to RPS19 deficiency is independent of an activated p53 response in a zebrafish model of Diamond-Blackfan anaemia2011

    • Author(s)
      Torihara H
    • Journal Title

      Br J Haematol

      Volume: 152(5) Pages: 648-654

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The NPC motif of aquaporin-11, unlike the NPA motif of known aquaporins, is essential for full expression of molecular function2011

    • Author(s)
      Ikeda M
    • Journal Title

      J.Biol.Chem

      Volume: 286(5) Pages: 3342-3350

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Guarding the 'translation apparatus' : defective ribosome biogenesis and the p53 signaling pathway

    • Author(s)
      Chakraborty A
    • Journal Title

      WIREs RNA

      Volume: (in press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Presentation] Analyzing the zebrafish model of Diamond-Blackfan anemia2014

    • Author(s)
      Uechi T., Nakajima Y., Yadav G. H., Suzuki Y., Sugano S., and Kenmochi N.
    • Organizer
      The 13th Diamond Blackfan Anemia International Consensus Conference
    • Place of Presentation
      Atlanta, USA
    • Related Report
      2013 Final Research Report 2012 Annual Research Report
  • [Presentation] A detection method for snoRNA modification domain by fully indexable dictionary retrieving2014

    • Author(s)
      Takayuki Yamamoto, Kunihito Yamamori, Naoya Kenmochi, Masaru Aikawa
    • Organizer
      AROB 19th 2014
    • Place of Presentation
      別府
    • Related Report
      2012 Annual Research Report
  • [Presentation] Erythropoiesis failure and ribosomal dysfunction in zebrafish model of Diamond-Blackfan anemia2013

    • Author(s)
      Uechi T., Nakajima Y., Yadav G., Sawada T., Ikeda M., and Kenmochi N.
    • Organizer
      The 62nd Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Boston, USA
    • Related Report
      2013 Final Research Report
  • [Presentation] When p53 senses faulty ribosomes : Induction of Tp53 correlates with enhanced expression of c-Myc target nucleolar proteins in Rpl11-deficient zebrafish2013

    • Author(s)
      Chakraborty A., Uechi T., Gleizes P.E., and Kenmochi N.
    • Organizer
      The 18th Annual Meeting of the RNA Society
    • Place of Presentation
      Davos, Switzerland
    • Related Report
      2013 Final Research Report
  • [Presentation] Loss of snoRNA expression leads to developmental defects in zebrafish2013

    • Author(s)
      Kenmochi N., Higa-Nakamine S., Uechi T., Chakraborty A., Suzuki T., and Suzuki T.
    • Organizer
      Keystone symposia "Noncoding RNAs in Development and Cancer"
    • Place of Presentation
      Vancouver, Canada
    • Related Report
      2013 Final Research Report
  • [Presentation] リボソームRNAの修飾はゼブラフィッシュの初期発生に必須の役割を果たす2013

    • Author(s)
      剣持 直哉
    • Organizer
      第36回 日本分子生物学会年会
    • Place of Presentation
      神戸ポートアイランド
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] RPG and snOPY: リボソームタンパク質遺伝子およびsnoRNA遺伝子データベースの構築2013

    • Author(s)
      吉浜 麻生、中尾 彰宏、上地 珠代、剣持 直哉
    • Organizer
      第36回 日本分子生物学会年会
    • Place of Presentation
      神戸ポートアイランド
    • Related Report
      2012 Annual Research Report
  • [Presentation] ダイアモンド・ブラックファン貧血の新たな責任遺伝子の同定:ゼブラフィッシュモデルを用いた解析2013

    • Author(s)
      澤田 尚史、上地 珠代、土岐 力、王 汝南、吉田 健一、小川 誠司、伊藤 悦朗、剣持 直哉
    • Organizer
      第36回 日本分子生物学会年会
    • Place of Presentation
      神戸ポートアイランド
    • Related Report
      2012 Annual Research Report
  • [Presentation] Zebrafish model of Diamond-Blackfan anemia: Ribosomal protein deficiency causes Tp53-independent erythropoiesis failure2013

    • Author(s)
      Gnaneshwar Yadav, Anirban Chakraborty, Tamayo Uechi, Naoya Kenmochi
    • Organizer
      第36回 日本分子生物学会年会
    • Place of Presentation
      神戸ポートアイランド
    • Related Report
      2012 Annual Research Report
  • [Presentation] Erythropoiesis failure and ribosomal dysfunction in zebrafish model of Diamond-Blackfan anemia2013

    • Author(s)
      Naoya Kenmochi
    • Organizer
      The 62nd Annual Meeting of American Society of Human Genetic
    • Place of Presentation
      Boston, USA
    • Related Report
      2012 Annual Research Report
  • [Presentation] ゼブラフィッシュを用いたリボソーム病発症機構の解明2013

    • Author(s)
      上地 珠代、中島 由香里、ヤダフ グナネシュワ、パティル プルカッシュ、鈴木 穣、菅野 純夫、剣持 直哉哉
    • Organizer
      第15回RNAミーティング
    • Place of Presentation
      愛媛県民文化会館(松山市)
    • Related Report
      2012 Annual Research Report
  • [Presentation] Molecular pathogenesis of ribosomopaties in zebrafish model for Diamond-Blackfan anemia2013

    • Author(s)
      Tamayo Uechi, Yukari Nakajima, Hiroko Sonoda, Masahiro Ikeda, Yutaka Suzuki, Sumio Sugano, Naoya Kenmochi
    • Organizer
      The 18th Annual Meeting of the RNA Society
    • Place of Presentation
      Davos, Switzerland
    • Related Report
      2012 Annual Research Report
  • [Presentation] When p53 senses faulty ribosomes: Induction of Tp53 correlates with enhanced expression of c-Myc target nucleolar proteins in Rpl11-deficient zebrafish2013

    • Author(s)
      Anirban Chakraborty, Tamayo Uechi, Pierre-Emmanuel Gleizes, Naoya Kenmochi
    • Organizer
      The 18th Annual Meeting of the RNA Society
    • Place of Presentation
      Davos, Switzerland
    • Related Report
      2012 Annual Research Report
  • [Presentation] Loss of snoRNA expression impairs ribosomal RNA modification and causes developmental defects in zebrafish2012

    • Author(s)
      Naoya Kenmochi
    • Organizer
      Protein-RNA Interactions in Biology and Disease
    • Place of Presentation
      Santa Fe, USA
    • Year and Date
      2012-03-04
    • Related Report
      2011 Annual Research Report
  • [Presentation] Loss of ribosomal RNA modification causes developmental defects in zebrafish2012

    • Author(s)
      Higa-Nakamine S., Uechi T., Chakraborty A., Suzuki T., Suzuki T., and Kenmochi N.
    • Organizer
      International Conference on Ribosome Synthesis
    • Place of Presentation
      Banff, Canada
    • Related Report
      2013 Final Research Report
  • [Presentation] Loss of snoRNA expression impairs ribosomal RNA modification and causes developmental defects in zebrafish2012

    • Author(s)
      Kenmochi N., Higa-Nakamine S., Uechi T., Chakraborty A., Nakajima Y., Suzuki T., and Suzuki T.
    • Organizer
      Keystone symposia"Protein-RNA Interactions in Biology and Disease"
    • Place of Presentation
      Santa Fe, USA
    • Related Report
      2013 Final Research Report
  • [Presentation] リボソームの異常と赤血球形成不全:ゼブラフィッシュを用いた解析2011

    • Author(s)
      上地珠代
    • Organizer
      第34回日本分子生物学会年会
    • Place of Presentation
      横浜
    • Year and Date
      2011-12-13
    • Related Report
      2011 Annual Research Report
  • [Presentation] Development of transgenic zebrafish using RNAi technology to investigate the role of ribosome in cancer2011

    • Author(s)
      Gnaneshwar Varadaraju Yadav
    • Organizer
      第34回日本分子生物学会年会
    • Place of Presentation
      横浜
    • Year and Date
      2011-12-13
    • Related Report
      2011 Annual Research Report
  • [Presentation] When p53 senses faulty ribosomes : Dynamics of c-Myc target nucleolar proteins and their correlation with Tp53 response in Rpl11-deficient zebrafish2011

    • Author(s)
      Anirban Chakraborty
    • Organizer
      第34回日本分子生物学会年会
    • Place of Presentation
      横浜(招待講演)
    • Year and Date
      2011-12-13
    • Related Report
      2011 Annual Research Report
  • [Presentation] ゼブラフィッシュをモデルとしたリボソーム病発症の分子機構の解析2011

    • Author(s)
      剣持直哉
    • Organizer
      第84回日本生化学会大会
    • Place of Presentation
      京都(招待講演)
    • Year and Date
      2011-09-21
    • Related Report
      2011 Annual Research Report
  • [Presentation] Ribosomal stress and the p53 network : An activated Tp53 response in Rpl11-deficient zebrafish correlates with an upregulated c-Myc activity2011

    • Author(s)
      Naoya Kenmochi
    • Organizer
      Protein Synthesis and Translational Control
    • Place of Presentation
      Heidelberg, Germany
    • Year and Date
      2011-09-07
    • Related Report
      2011 Annual Research Report
  • [Presentation] Defective erythropoiesis and ribosomal dysfunction in zebrafish model of Diamond-Blackfan anemia2011

    • Author(s)
      Tamayo Uechi
    • Organizer
      第16回RNA Society Meeting "RNA 2011 Kyoto"
    • Place of Presentation
      京都
    • Year and Date
      2011-06-14
    • Related Report
      2011 Annual Research Report
  • [Presentation] リボソーム生合成の異常とp53の活性化:ゼブラフィッシュを用いた解析2010

    • Author(s)
      剣持直哉
    • Organizer
      第33回日本分子生物学会年会・第83回日本生化学会大会合同大会
    • Place of Presentation
      神戸
    • Year and Date
      2010-12-07
    • Related Report
      2010 Annual Research Report
  • [Presentation] Ribosomal stress and the p53 network : Impaired ribosome biogenesis due to ribosomal protein deficiency leads to p53 induction in zebrafish2010

    • Author(s)
      N.Kenmochi
    • Organizer
      60th Annual ASHG Meeting
    • Place of Presentation
      Washington DC
    • Year and Date
      2010-11-02
    • Related Report
      2010 Annual Research Report
  • [Presentation] Ribosomal dysfunction and bone marrow failure : Analysis of zebrafish model for Diamond-Blackfan anemia2010

    • Author(s)
      Tamayo Uechi
    • Organizer
      15th Annual Meeting of the RNA Society
    • Place of Presentation
      Seattle
    • Year and Date
      2010-06-22
    • Related Report
      2010 Annual Research Report
  • [Presentation] Ribosomal Protein L11 (RPL11) Deficient Zebrafish Exhibit Upregulation of p53-Modulatory Nucleolar Proteins Involved in Ribosome Biogenesis2010

    • Author(s)
      Anirban Chakraborty
    • Organizer
      9th International Meeting on Zebrafish Development and Genetics
    • Place of Presentation
      Madison
    • Year and Date
      2010-06-16
    • Related Report
      2010 Annual Research Report
  • [Book] Ribosomes and ribosomal proteins : more than just 'housekeeping'2012

    • Author(s)
      Chakraborty A., and Kenmochi N.
    • Publisher
      In : eLS. John Wiley & Sons Ltd, Chichester.
    • Related Report
      2013 Final Research Report
  • [Book] 【4章】真核生物のsmall RNA機能性RNAの分子生物学The molecular biology of non-coding RNA2010

    • Author(s)
      剣持直哉
    • Total Pages
      40
    • Publisher
      グバプロ
    • Related Report
      2010 Annual Research Report
  • [Remarks] リボソームタンパク質遺伝子データベース(RPG)

    • URL

      http://ribosome.med.miyazaki-u.ac.jp/

    • Related Report
      2013 Final Research Report
  • [Remarks] snoRNA遺伝子データベース(snOPY)

    • URL

      http://snoopy.med.miyazaki-u.ac.jp/

    • Related Report
      2013 Final Research Report
  • [Remarks] ゼブラフィッシュRP遺伝子ノックダウンデータベース

    • URL

      http://zebrafish.med.miyazaki-u.ac.jp/

    • Related Report
      2013 Final Research Report
  • [Remarks] 研究室ホームページ

    • URL

      http://ribosome.med.miyazaki-u.ac.jp/labo/

    • Related Report
      2013 Final Research Report
  • [Remarks] 剣持研究室ホームページ

    • URL

      http://ribosome.med.miyazaki-u.ac.jp/labo/

    • Related Report
      2012 Annual Research Report
  • [Remarks] リボソームタンパク質遺伝子データベース

    • URL

      http://ribosome.med.miyazaki-u.ac.jp/

    • Related Report
      2012 Annual Research Report
  • [Remarks] snoRNA遺伝子データベース

    • URL

      http://snoopy.med.miyazaki-u.ac.jp/

    • Related Report
      2012 Annual Research Report
  • [Remarks] ゼブラフィッシュRP遺伝子ノックダウンデータベース

    • URL

      http://zebrafish.med.miyazaki-u.ac.jp/

    • Related Report
      2012 Annual Research Report
  • [Remarks]

    • URL

      http://ribosome.med.miyazaki-u.ac.jp/

    • Related Report
      2011 Annual Research Report
  • [Remarks]

    • URL

      http://snoopy.med.miyazaki-u.ac.jp/

    • Related Report
      2011 Annual Research Report
  • [Patent(Industrial Property Rights)] 抗RNA抗体のスクリーニング方法及びRNA抗体の製造方法2011

    • Inventor(s)
      剣持直哉,吉浜麻生,高柳淳,清水信義
    • Industrial Property Rights Holder
      宮崎大学,慶慮義塾大学
    • Industrial Property Number
      2011-098698
    • Filing Date
      2011-04-26
    • Related Report
      2013 Final Research Report
  • [Patent(Industrial Property Rights)] 抗RNA抗体のスクリーニング方法及びRNA抗体の製造方法2011

    • Inventor(s)
      剣持直哉、吉浜麻生、高柳淳、清水信義
    • Industrial Property Rights Holder
      剣持直哉、吉浜麻生、高柳淳、清水信義
    • Industrial Property Number
      2011-098698
    • Filing Date
      2011-04-26
    • Related Report
      2011 Annual Research Report

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Published: 2010-08-23   Modified: 2019-07-29  

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