2013 Fiscal Year Final Research Report
The mechanistic basis of human epigenome establishement
| Project/Area Number |
23249019
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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) |
ICHIYANAGI Kenji 九州大学, 生体防御医学研究所, 助教 (70401560)
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| Project Period (FY) |
2011-05-31 – 2014-03-31
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| Keywords | 遺伝学 / エピゲノム / DNAメチル化 / 小分子RNA |
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| Research Abstract |
In tis study, we tried to identify factors that determine DNA methylation patterns of human cells, with a long-term goal of clarifying mechanisms regulating gene expression. First, we identified ZBTB24 protein as a novel methylation pattern determinant, based on the study of an immune-deficiency syndrome accompanied by DNA hypomethylation at certain DNA sequences. A gene knockout study in mice confirmed that it is indeed a factor regulating DNA methylation. Second, based on the comparative study of methylation patterns between human and chimpanzee, we identified CTCF protein, a transcription factor, and its target sequence as methylation determinants. Species-specific sequence changes that disrupted CTCF binding were correlated with hypermethylation. Lastly, we identified CpG dinucleotide density in tandem repetitive sequences as another determinant. Our results provide a basis to study the roles of methylation in evolution, variability and disease such as cancer.
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[Journal Article] Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients2013
Author(s)
Nitta, H., Unoki, M., Ichiyanagi, K., Kosho, T., Shigemura, T., Takahashi, H., Velasco, G., Francastel, C., Picard, C., Kubota, T. & Sasaki, H.
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Journal Title
J. Hum. Genet.
Volume: 58
Pages: 455-460
DOI
Peer Reviewed
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[Journal Article] Regional DNA methylation differences between humans and chimpanzees are associated with genetic changes, transcriptional divergence and disease genes2013
Author(s)
Fukuda, K., Ichiyanagi, K., Yamada, Y., Go, Y., Udono, T., Wada, S., Maeda, T., Soejima, H., Saitou, N., Ito, T. & Sasaki, H.
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Journal Title
J. Hum. Genet.
Volume: 58
Pages: 446-454
DOI
Peer Reviewed
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[Presentation] 2型ICF症候群原因遺伝子ZBTB24のDNAメチル化制御機構の解明2013
Author(s)
新田洋久,鵜木元香,一柳健司,古庄知己,重村倫成,高橋浩士, Guillaume Velasco, Claire Francastel, CapucinePicard,大津真,金子新,久保田健夫,佐々木裕之
Organizer
日本人類遺伝学会第58回大会
Place of Presentation
仙台
Year and Date
20131121-22
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