| 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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| 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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