Molecular pathogenesis of ribosomopathies and defective ribosome CODE
| Project/Area Number |
25291003
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Partial Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Molecular biology
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| Research Institution | University of Miyazaki |
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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)
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| Co-Investigator(Renkei-kenkyūsha) |
Suzuki Tsutomu 東京大学, 工学研究科, 教授 (20292782)
Suzuki Yutaka 東京大学, 新領域創成科学研究科, 教授 (40323646)
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| Project Period (FY) |
2013-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥17,940,000 (Direct Cost: ¥13,800,000、Indirect Cost: ¥4,140,000)
Fiscal Year 2015: ¥5,850,000 (Direct Cost: ¥4,500,000、Indirect Cost: ¥1,350,000)
Fiscal Year 2014: ¥5,980,000 (Direct Cost: ¥4,600,000、Indirect Cost: ¥1,380,000)
Fiscal Year 2013: ¥6,110,000 (Direct Cost: ¥4,700,000、Indirect Cost: ¥1,410,000)
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| Keywords | リボソーム / 疾患モデル / ゼブラフィッシュ / 造血異常 / 核小体 / 発がん / 飜訳 / ダイアモンド・ブラックファン貧血 / ダイヤモンド・ブラックファン貧血 / 翻訳 |
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| Outline of Final Research Achievements |
Ribosomopathies are the diseases caused by ribosomal abnormalities. We hypothesized that the selected mRNA translation by ribosomes should play an important role in the disease onset. To investigate the molecular pathogenesis of ribosomopathies, we developed a zebrafish model of Diamond-Blackfun anemia by knocking down a ribosomal protein gene RPS19 and found that the genes involved in erythropoiesis and glycan biosynthesis were translationally down-regulated. We also investigated the role of rRNA modifications in zebrafish and found that the modifications are essential for the early development of zebrafish and a loss of the modification leads to translational dysregulation of mRNAs. These results indicate that regulation of the selected mRNA translation is associated with the pathogenic mechanism of ribosomopathies.
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Report
(5 results)
Research Products
(65 results)
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[Journal Article] Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.2017
Author(s)
Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E.
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Journal Title
Haematologica.
Volume: -
Issue: 3
Pages: e93-e96
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy2017
Author(s)
Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H, Uechi T, Mitsui J, Ishiura H, Yoshimura J, Doi K, Kenmochi N, Morishita S, Nishino I, Tsuji S, and Nunoi H
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Journal Title
J Hum Genet
Volume: 62
Issue: 4
Pages: 473-480
DOI
NAID
Related Report
Peer Reviewed / Open Access
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[Journal Article] scaRNAs regulate splicing and vertebrate heart development.2015
Author(s)
Patil, P., Kibiryeva, N., Uechi, T., Marshall, J., Artman, M., O'Brien, J.E., Kenmochi, N. and Bittel, D.C.
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Journal Title
Biochimica et Biophysica Acta-Molecular Basis of Disease
Volume: 未定
Issue: 8
Pages: 1619-1629
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.2015
Author(s)
Wang R, Yoshida K, Toki T, Sawada T, Uechi T, Okuno Y, Sato-Otsubo A, Kudo K, Kamimaki I, Kanezaki R, Shiraishi Y, Chiba K, Tanaka H, Terui K, Sato T, Iribe Y, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Hara J, et al.
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Journal Title
British Journal of Haematology
Volume: 168
Issue: 6
Pages: 854-864
DOI
Related Report
Peer Reviewed / Open Access
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[Presentation] Exome sequencing identified RPS15A as a novel causative gene in a Dimond-Blackfan anemia family2015
Author(s)
Fumika Ikeda, Kenichi Yoshida, Tsutomu Toki, Rika Kanezaki, Kiminori Terui, Yoji Sasahara, Aiko Sato-Otsubo, Yuichi Shiraishi, Kenichi Chiba, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Tamayo Uechi, Naoya Kenmochi, Satoru Miyano, Seishi Ogawa, Etsuro Ito
Organizer
第77回日本血液学会学術集会
Place of Presentation
石川県立音楽堂（金沢市昭和町）
Year and Date
2015-10-16
Related Report
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