2015 Fiscal Year Final Research Report
Aberrant DNA methylation at imprinting control regions in Sotos syndrome
| Project/Area Number |
25461554
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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 |
Pediatrics
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| Research Institution | Saga University |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
MATSUMOTO Naomichi 横浜市立大学, 医学部医学科・遺伝学, 教授 (80325638)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Keywords | Sotos症候群 / NSD1 / Beckwith-Wiedemann症候群 / DNAメチル化 |
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| Outline of Final Research Achievements |
The cause of Sotos syndrome (SoS) and Beckwith-Wiedemann syndrome (BWS) is haploinsufficiency of NSD1 due to intragenic mutations and submicroscopic deletions and aberrant methylation in imprinting regulatory regions at 11p15.5, respectively. These two syndromes belong to overgrowth syndrome and the phenotype is occasionally similar, although the cause is different.
In this study, we showed that aberrant DNA methylation aroused at 11p15.5 in peripheral blood DNA derived from SoS patients. In addition, the HEK293 cells treated by DNA-demethylating agent mimicked the aberrant methylation in SoS patients and the cells increased the expression of growth factor related gene, which is overexpressed in BWS. These suggest that it might be possible to explain the similarity between both syndromes.
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| Free Research Field |
分子遺伝学
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