Analysis of responsible region in chromosome 21 for the disease phenotype in Down syndrome
Project/Area Number |
25461546
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | Osaka University |
Principal Investigator |
KITABATAKE YASUJI 大阪大学, 医学(系)研究科(研究院), 助教 (80506494)
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Project Period (FY) |
2013-04-01 – 2016-03-31
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Project Status |
Completed (Fiscal Year 2015)
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Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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Keywords | iPS細胞 / ゲノム編集 / ダウン症候群 / 小児科 / 染色体異常症候群 / 造血異常 / 一過性骨髄異常増殖症 / TALEN |
Outline of Final Research Achievements |
Down syndrome (DS) is caused by the presence of three copies of human chromosome 21. Among various medical symptoms, DS patients have an increased likelihood of certain hematopoietic abnormalities. We focused on transient abnormal myelopoiesis (TAM) in DS, which are characteristically associated with somatic mutations in GATA1. To better understand pathological mechanism and identify the causal genes in TAM, we constructed cellular disease models using human induced pluripotent stem cells (iPSCs) and genome-editing technologies. By generating a partial trisomy 21 iPSCs in which a 4-Mb region was deleted from a single copy of chromosome 21, we succeeded in proving this segment as a critical region for TAM.
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Report
(4 results)
Research Products
(14 results)
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[Journal Article] Systematic cellular disease models reveal synergistic interactions of trisomy 21 and GATA1 mutations in hematopoietic abnormalities2016
Author(s)
K. Banno, S. Omori, K. Hirata, N. Nawa, N. Nakagawa, K. Nishimura, M. Ohtaka, M. Nakanishi, T. Sakuma, T. Yamamoto, T. Toki, E. Ito, T. Yamamoto, C. Kokubu, J. Takeda, H. Taniguchi, H. Arahori, K. Wada, Y. Kitabatake and K. Ozono
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Journal Title
Cell Reports
Volume: 15
Issue: 6
Pages: 1-15
DOI
NAID
Related Report
Peer Reviewed / Open Access
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