Functional and Imprinting Analysis in Brain of Angelman Syndrome Gene UBE3A
| Project/Area Number |
14570754
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Nagasaki University |
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Principal Investigator |
KISHINO Tatsuya Nagasaki University, Center for Frontier Life Sciences, Division of Functional Genomics, Assistant Professor, 先導生命科学研究支援センター, 助教授 (70315232)
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| Project Period (FY) |
2002 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥3,700,000 (Direct Cost: ¥3,700,000)
Fiscal Year 2003: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 2002: ¥2,800,000 (Direct Cost: ¥2,800,000)
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| Keywords | Imprinting / Angelman syndrome / Ube3a / Neuron / Gliall cells / Histone modification / Atp10a / アンジェルマシ症候群 |
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| Research Abstract |
The human UBE3A gene shows brain-specific partial imprinting, and lack of a maternally inherited allele causes Angelman syndrome (AS), which is characterized by neurobehavioral anomalies. In several AS model mice, imprinted Ube3a expression is detected predominantly in the hippocampus, cerebellar Purkinje cells, and the olfactory bulb. Therefore, imprinting of mouse Ube3a is thought to be region-specific with different levels of silencing of the paternal Ube3a allele in different brain regions. To determine cell-types of imprinted Ube3a expression, we analyzed its imprinting status in embryonic brain cells by using primary cortical cell cultures. RT PCR and immunofluorescence were performed to determine the allelic expression of the gene The Ube3a gene encodes two RNA transcripts in the brain : sense and antisense transcripts. The sense transcript was expressed maternally in neurons but biallelically expressed in glial cells in the embryonic brain, whereas the antisense transcript was expressed only in neurons and paternally expressed. Our data present the first evidence of brain cell-type specific imprinting, i.e., neuron-specific imprinting but not in glial cells, of Ube3a in primary brain cell cultures. Reciprocal imprinting of sense and antisense transcripts presented only in neurons suggests the neuron-specific imprinting mechanism related to the lineage determination of neural stem cells.
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Report
(3 results)
Research Products
(14 results)
