| Project/Area Number |
25461648
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Embryonic/Neonatal medicine
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| Research Institution | Saga University |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
Soejima Hidenobu 佐賀大学, 医学部分子遺伝学エピジェネティクス分野, 教授 (30304885)
Yoshiura Koh-ichiro 原爆後障害医療研究所, 教授 (00304931)
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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: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | Beckwith-Wiedemann症候群 / 片親性ダイソミー / ゲノムワイド父性ダイソミー / エクソーム解析 / メチル化解析 / 父性ダイソミー / 次世代シークエンサー / エピジェネティック / 全ゲノム父性ダイソミー / インプリント疾患 / Beckwith-Wiedemann 症候群 |
|---|
| Outline of Final Research Achievements |
In uniparental disomy (pUPD) of the 11 chromosome with Beckwith-Wiedemann syndrome, we identified seven cases of genome wide uniparental paternal disomy (GWPUPD). GWPUPD was complicated for tumorigenesis, mental retardation and congenital heart disease. We whole exome analysis and performed methylation analysis about GWPUPD 4 cases. We detected many mutations of autosomal recessive gene, and cystinuria developed in one subject. In addition, methylation abnormality was detected to multiple imprinting locus including 11p15.5. We revealed that GWpUPD influenced both autosomal recessive genes and multiple imprinting genes.
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