Molecular mechanism of aneuploidy syndrome: Pallsiter-Killian syndrome as a model
| Project/Area Number |
26870139
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Medical genome science
Human genetics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
Kosuke Izumi 東京大学, 分子細胞生物学研究所, 助教 (40383707)
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 染色体異常 / モザイク / デジタルPCR / エピゲノム / モザイク染色体異常 / 遺伝子発現解析 / ゲノムワイド解析 / エピゲノム解析 |
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| Outline of Final Research Achievements |
Pallister-Killian syndrome (PKS) is caused by chromosomal duplication of 12p, which exists as mosaic aneuploidy. In order to understand the molecular mechanism of PKS, we evaluated the transcriptome pattern and epigenomic alteration in PKS patient-derived samples. Our data indicates the presence of unique transcriptome profile in PKS. Furthermore, there were unique epigenomic alterations seen only in PKS samples, suggesting the involvement of epigenomic alteratiosn in the pathogenesis of PKS. Our study revealed these novel insights into the molecular mechanism of PKS, and such insights may have implications for other aneuploidy syndromes such as Down syndrome.
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Report
(3 results)
Research Products
(8 results)
