2015 Fiscal Year Final Research Report
The role of hydroxymethylation in congenital anomaly syndromes caused by aberrant methylation
| Project/Area Number |
25713040
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| Research Category |
Grant-in-Aid for Young Scientists (A)
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| Allocation Type | Partial Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | 独立行政法人国立病院機構(東京医療センター臨床研究センター) (2015)
Keio University |
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Principal Investigator |
Yamazawa Kazuki 独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 医師 (10338113)
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| Research Collaborator |
OGATA Tsutomu
KAGAMI Masayo
MATSUBARA Keiko
NAKABAYASHI Kazuhiko
FERGUSON-SMITH Anne C.
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Keywords | ゲノムインプリンティング / エピジェネティクス / メチル化 |
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| Outline of Final Research Achievements |
5-hydroxymethylcytosine (5hmC), converted from 5-methylcytosine (5mC) by TET enzymes, is an intermediate of the demethylation pathway. We applied the newly developed oxidative BS (oxBS) treatment to detect 5hmC in blood samples from Kagami-Ogata syndrome (KOS) patients. As a result, it was found that 5hmC was not a major component in abnormally hypermethylated IG-DMR or at a global level, at least in blood from KOS patients. As the brain sample contained large amounts of 5hmC, the neural tissues of KOS patients are promising candidates for analysis in elucidating the role of 5hmC in the neurodevelopmental context.
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| Free Research Field |
小児科学 臨床遺伝学
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