2013 Fiscal Year Final Research Report
Molecular pathology of hereditary microcephaly by the dysfunction of DNA repair
| Project/Area Number |
23710068
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Risk sciences of radiation/Chemicals
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| Research Institution | Hiroshima University |
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Principal Investigator |
MIYAMOTO Tatsuo 広島大学, 原爆放射線医科学研究所, 助教 (40452627)
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| Project Period (FY) |
2011 – 2013
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| Keywords | 遺伝性小頭症 / DNA損傷修復欠損症 |
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| Research Abstract |
Radiation exposure in utero induces severe microcephaly with mental retardation. However, less is known about the molecular and cellular pathology of microcephaly.This study revealed that mutations of the MRE11A gene causes hereditary microcephaly via the aberrant enhancement of ATM-dependent apoptosis. Moreover we demonstrated that the unrelated two patients with Seckel syndrome were compound-heterozygotes of null type mutations of pericentrin gene encoding a centrosome protein, and that G1 phase-arrested population in the patient cells increased by an aberrant activation of p53-p21 pathway. Taken together, these results shed light on the molecular basis of genetic microcephaly.
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[Journal Article] TALEN-mediated single-base-pair editing identification of an intergenic mutation of upstream of BUB1B as causative of PCS (MVA) syndrome2014
Author(s)
Ochiai H, Miyamoto T, Kanai A, Hosoba K, Sakuma T, Kudo Y, Asami K, Ogawa A, Watanabe A, Kajii K, Ymamoto T, Matsuura S.
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Journal Title
Proc Natl Acad Sci USA
Volume: 111
Pages: 1461-1466
DOI
Peer Reviewed
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[Journal Article] Repeating pattern of non-RVD variations in DNA-binding modules enhances TALEN activity2013
Author(s)
Sakuma T, Ochiai H, Kaneko T, Mashimo T, Tokumasu D, Sakane Y, Suzuki K, Miyamoto T, Sakamoto N, Matsuura S, Yamamoto T
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Journal Title
Sci Rep
Volume: 3
Pages: 3379
DOI
Peer Reviewed
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[Journal Article] Efficient TALEN construction and evaluation methods for human cell and animal applications2013
Author(s)
Sakuma T, Hosoi S, Woltjen K, Suzuki KI, Kashiwagi K, Wada H, Ochiai H, Miyamoto T, Kawai N, Sasakura Y, Matsuura S, Okada Y, Kawahara A, Hayashi S, Yamamoto T
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Journal Title
Genes Cells
Volume: 18
Pages: 315-326
DOI
Peer Reviewed
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[Journal Article] Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates2011
Author(s)
Miyamoto T, Porazinski S, Wang H, Borovina A, Ciruna B, Shimizu A, Kajii T, Kikuchi A, Furutani-Seiki M, Matsuura S
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Journal Title
Hum Mol Genet
Volume: 20(10)
Pages: 2058-2070
DOI
Peer Reviewed
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[Journal Article] Two unrelated patients with MRE11Amutations and Nijimegen breakage syndrome-like severe microcephaly2011
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, Matsuura S
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Journal Title
DNA Repair (Amst)
Volume: 10(3)
Pages: 314-321
DOI
Peer Reviewed
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