Pathologic clarification and development of new medicine for imprinting disorders in terms of hydroxymethylation
| Project/Area Number |
16H05362
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | 独立行政法人国立病院機構(東京医療センター臨床研究センター) |
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Principal Investigator |
Yamazawa Kazuki 独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 医師 (10338113)
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| Co-Investigator(Kenkyū-buntansha) |
鏡 雅代 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 室長 (70399484)
松原 圭子 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (90542952)
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| Research Collaborator |
NAKABAYASHI Kazuhiko
MATSUNAGA Tatsuo
AKUTSU Hidenori
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥17,160,000 (Direct Cost: ¥13,200,000、Indirect Cost: ¥3,960,000)
Fiscal Year 2018: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2017: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
Fiscal Year 2016: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
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| Keywords | エピジェネティクス / メチル化 / インプリンティング / 先天異常症候群 / ゲノムインプリンティング / ヒドロキシメチル化 / ゲノム |
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| Outline of Final Research Achievements |
5-hydroxymethyl cytosine (5hmC) has been noted as an intermediate metabolite in DNA demethylation reactions. The purpose of this study is to elucidate how 5hmC is involved in pathogenesis of imprinting disorders caused by methylation defects. We analyzed patient-derived iPS cells for disease model and placenta to clarify the dynamic behavior of 5hmC. The overall 5hmC content in iPS cells was increased compared to the skin fibroblasts. In addition, placenta had a higher content of 5hmC as compared to blood, and in particular, 5hmC was concentrated in the imprinting control regions in placental genome.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究はインプリンティング異常症において5hmCの果たす役割を明らかにすることを目標とする、ヒト臨床検体を用いた世界初の5hmC解析である。不可逆的なゲノム配列の異常とは対照的に、メチル化をはじめとするエピゲノムは可塑性を持ち、治療の標的となる可能性がある。今回得られた知見はpreliminaryなものであるが、今後もサンプルを増やし広範に解析を行うことにより、メチル化・脱メチル化を制御することによるエピゲノム治療法の開発につながることが期待される。
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Report
(4 results)
Research Products
(24 results)
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[Journal Article] Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.2017
Author(s)
Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M.
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Journal Title
Clin Epigenetics
Volume: 9
Issue: 1
Pages: 52-52
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] H1foo Has a Pivotal Role in Qualifying Induced Pluripotent Stem Cells2016
Author(s)
Kunitomi A, Yuasa S, Sugiyama F, Saito Y, Seki T, Kusumoto D, Kashimura S, Takei M, Tohyama S, Hashimoto H, Egashira T, Tanimoto Y, Mizuno S, Tanaka S, Okuno H, Yamazawa K, Watanabe H, Oda M, Kaneda R, Matsuzaki Y, Nagai T, Okano H, Yagami K, Tanaka M, Fukuda K.
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Journal Title
Stem Cell Reports
Volume: 6
Issue: 6
Pages: 825-833
DOI
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] Germline whole-gene deletion and somatic nonsense variant of the CDC73 gene in a boy with primary hyperparathyroidism.2017
Author(s)
Hatabu N, Katori N, Maeda N, Suzuki E, Komiyama O, Tsutsui H, Nagao T, Sato T, Ishii T, Hasegawa T, Yamazawa K.
Organizer
日本人類遺伝学会第62回大会
Related Report
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[Presentation] CDC73遺伝子全領域を含む3.4 Mbの欠失を認めた副甲状腺腺腫の15歳男児例.2017
Author(s)
山澤一樹, 前田直則, 籏生なおみ, 香取奈穂, 鈴木絵理, 込山修, 佐藤武志, 石井智弘, 長谷川奉延, 筒井英光, 長尾俊孝.
Organizer
第23回日本家族性腫瘍学会
Related Report
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