Molecular pathology of hereditary microcephaly by the dysfunction of DNA repair
| Project/Area Number |
23710068
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Risk sciences of radiation/Chemicals
|
|---|
| Research Institution | Hiroshima University |
|---|
Principal Investigator |
MIYAMOTO Tatsuo 広島大学, 原爆放射線医科学研究所, 助教 (40452627)
|
|---|
| Project Period (FY) |
2011 – 2013
|
| Project Status |
Completed (Fiscal Year 2013)
|
| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2013: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
|
|---|
| Keywords | 遺伝性小頭症 / DNA損傷修復欠損症 |
|---|
| 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.
|
Report
(4 results)
Research Products
(71 results)
-
[Journal Article] TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.2014
Author(s)
Ochiai H, Miyamoto T, Kanai A, Hosoba K, Sakuma T, Kudo Y, Asami K, Ogawa A, Watanabe A, Kajii T, Yamamoto T, Matsuura S.
-
Journal Title
Proc Natl Acad Sci U S A.
Volume: 111(4)
Issue: 4
Pages: 1461-6
DOI
Related Report
Peer Reviewed
-
[Journal Article] Repeating pattern of non-RVD variations in DNA-binding modules enhances TALEN activity.2013
Author(s)
Sakuma T, Ochiai H, Kaneko T, Mashimo T, Tokumasu D, Sakane Y, Suzuki K, Miyamoto T, Sakamoto N, Matsuura S, Yamamoto T
-
Journal Title
Sci Rep.
Volume: 3
Issue: 1
Pages: 3379-3379
DOI
Related Report
Peer Reviewed
-
[Journal Article] Efficient TALEN construction and evaluation methods for human cell and animal applications.2013
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.
-
Journal Title
Genes to Cells
Volume: (In press)
Issue: 4
Pages: 315-326
DOI
Related Report
Peer Reviewed
-
-
-
-
-
-
-
[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.
-
Journal Title
DNA Repair (Amst).
Volume: 10(3)
Pages: 314-321
Related Report
Peer Reviewed
-
[Journal Article] Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.2011
Author(s)
Miyamoto T, Porazinski S, Wang H, Borovina A, Ciruna B, Shimizu A, Kajii T, Kikuchi A, Furutani-Seiki M, Matsuura S.
-
Journal Title
Hum Mol Genet.
Volume: 20(10)
Pages: 2058-2070
Related Report
Peer Reviewed
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
