the MBD5 gene cause the clinical features of neurodevelopmental disorder
| Project/Area Number |
26460409
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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 |
Human genetics
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| Research Institution | Kanazawa University |
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Principal Investigator |
Meguro Makiko 金沢大学, 学際科学実験センター, 博士研究員 (20304222)
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| Co-Investigator(Renkei-kenkyūsha) |
HORIKE Shin-ichi 金沢大学, 学際科学実験センター, 准教授 (40448311)
ITOH Masayuki 独立行政法人国立精神・神経医療研究センター・神経研究所, 疾病研究第二部, 室長 (50243407)
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| Research Collaborator |
HOTTA Akitsu
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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 |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 発達障害 / 自閉症 / エピジェネティクス / MBD5 / レット症候群 / メチル化CpG結合ドメイン / 選択的スプライシング / Rett症候群 |
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| Outline of Final Research Achievements |
The incidence of autism spectrum disorders (ASD) has increased dramatically over the past decade. However, for at least 70% of ASD cases, the underlying genetic cause remain unknown.Recent whole-genome microarray studies have revealed that deletion or duplication at 2q23.1 includes MBD5, a methyl-DNA binding protein that is a causative gene of ASD. In this study, we first targeted the MBD5 gene in the SH-SY5Y cells, using two pairs of ZFNs. Then we examined the microarray analysis in MBD5+/- cells. The results indicates that MBD5 may have a crucial role of non-coding RNA expression.
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Report
(4 results)
Research Products
(29 results)
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[Journal Article] Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes.2016
Author(s)
Dunaway KW, Islam MS, Coulson RL, Lopez SJ, Vogel Ciernia A, Chu RG, Yasui DH, Pessah IN, Lott P, Mordaunt C, Meguro-Horike M, Horike SI, Korf I, LaSalle JM.
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Journal Title
Cell Report
Volume: 17
Issue: 11
Pages: 3035-3048
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation.2016
Author(s)
Guo, L., Yamashita, H., Kou, I., Takimoto, A., Meguro-Horike, M., Horike, S., Adachi, T., Ikegawa, S., Hiraki, Y., Shukunami, C.
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Journal Title
Plos Genetics
Volume: 12
Issue: 1
Pages: e1005802-e1005802
DOI
NAID
Related Report
Peer Reviewed / Open Access
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