2010 Fiscal Year Final Research Report
Toward the identification of the genes for hereditary microcephaly
| Project/Area Number |
20390100
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 | Hiroshima University |
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Principal Investigator |
MATSUURA Shinya Hiroshima University, 原爆放射線医科学研究所, 教授 (90274133)
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| Co-Investigator(Kenkyū-buntansha) |
IZUMI Hideki 広島大学, 原爆放射線医科学研究所, 助教 (10397987)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 分子遺伝学 |
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| Research Abstract |
We have collected DNA samples of 11 Japanese patients with hereditary sever microcephaly from 10 families, and analyzed for mutations in the DNA repair genes. Two patients had mutations in the MRE11A gene, and two patients had mutations in the Pericentrin gene. It was assumed that, in these patients, DNA damage accumulated in neuronal cells, and these cells were eliminated by apoptotic cell death, leading to development of microcephaly.
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Research Products
(37 results)
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[Journal Article] Insufficiency of BUBR1, amitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.2011
Author(s)
Miyamoto T, Porazinski S, Wang H, Boravina A, Ciruna B, Shimizu A, Kajii T, Kikuchi A, Furutani-Seiki M, Matsuura S
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Journal Title
Hum Mol Genet 20
Pages: 2058-2070
Peer Reviewed
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[Journal Article] Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.2011
Author(s)
Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, Ogi T, Tahara H, Oku S, Hiramoto A, Shiiki T, Fujisawa Y, Ohashi H, Sakemi Y, Matsuura S
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Journal Title
DNA Repair (Aast) 10
Pages: 314-321
Peer Reviewed
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[Journal Article] Mutations of optineurin in amyotrophic lateral sclerosis.2010
Author(s)
Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure 0, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H.
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Journal Title
Nature 465
Pages: 223-226
Peer Reviewed
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[Journal Article] HpSulf, a heparan sulfate 6-0-endosulfatase, is involved in the regulation of VEGF signaling during sea urchin development.2010
Author(s)
Fujita K, Takechi E, Sakamoto N, Sumiyoshi N, Izumi S, Miyamoto T, Matsuura S, Tsurugaya T, Akasaka K, Yamamoto T.
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Journal Title
Mech Dev 127
Pages: 235-245
Peer Reviewed
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[Journal Article] Absence of Ku70 gene obliterates X-ray-induced lacZ mutagenesis of small deletions in mouse tissues.2008
Author(s)
Uehara Y, Ikehata H, Komura J, Ito A, Ogata M, Itoh T, Hirayama R, Furusawa Y, Ando K, Paunesku T, Woloschak GE, Komatsu K, Matsuura S, Ikura T, Kamiya K, Ono T.
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Journal Title
Radiat Res 170
Pages: 216-223
Peer Reviewed
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