| Project/Area Number |
26253020
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Kyushu University |
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Principal Investigator |
SASAKI Hiroyuki 九州大学, 生体防御医学研究所, 教授 (30183825)
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| Co-Investigator(Renkei-kenkyūsha) |
UNOKI Motoko 九州大学, 生体防御医学研究所, 助教 (30525374)
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| Research Collaborator |
NITTA Hirohisa 九州大学, 生体防御医学研究所, 研究生
ITO Yuya 九州大学, 大学院・医学系研究科, 大学院生
SUYAMA Mikita 九州大学, 生体防御医学研究所, 教授
van der MAAREL Silvere M. Leiden University Medical Center, 教授
FRANCASTEL Claire Universite Paris Diderot, グループリーダー
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥40,560,000 (Direct Cost: ¥31,200,000、Indirect Cost: ¥9,360,000)
Fiscal Year 2016: ¥12,480,000 (Direct Cost: ¥9,600,000、Indirect Cost: ¥2,880,000)
Fiscal Year 2015: ¥12,480,000 (Direct Cost: ¥9,600,000、Indirect Cost: ¥2,880,000)
Fiscal Year 2014: ¥15,600,000 (Direct Cost: ¥12,000,000、Indirect Cost: ¥3,600,000)
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| Keywords | エピジェネティクス / ＤＮＡメチル化 / ヘテロクロマチン / 免疫不全 / 遺伝病 / DNAメチル化 |
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| Outline of Final Research Achievements |
ICF (immunodeficiency, centromeric instability, and facial anomalies) syndrome is a monogenic disorder accompanied by hypomethylation of satellite DNA and relaxed heterochromatin and thus considered to be a model for the studies of the human epigenome regulation. In the present study, we have identified two new causative genes CDCA7 and HELLS for ICF syndrome, in addition to the known DNMT3B and ZBTB24 genes, which now allows us to diagnose over 90% of all ICF patients by DNA tests. We then established cultured cell lines each carrying mutations in one of the causative genes and revealed the physical interactions between the gene products, their involvement in the same biological pathways, and their common association with DNA damage repair. Our findings suggest that the products of the ICF causative genes are involved in a here-to-fore unknown molecular network regulating the human epigenome.
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