Molecular analysis of primary microcephaly using genome editing technique
Project/Area Number |
24651222
|
Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
Allocation Type | Multi-year Fund |
Research Field |
Medical genome science
|
Research Institution | Hiroshima University |
Principal Investigator |
MATSUURA SHINYA 広島大学, 原爆放射線医科学研究所, 教授 (90274133)
|
Co-Investigator(Kenkyū-buntansha) |
MIYAMOTO Tatsuo 広島大学, 原爆放射線医科学研究所, 講師 (40452627)
|
Project Period (FY) |
2012-04-01 – 2015-03-31
|
Project Status |
Completed (Fiscal Year 2014)
|
Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
|
Keywords | 遺伝性小頭症 / 次世代シーケンサー / 人工ヌクレアーゼ / エクソーム解析 |
Outline of Final Research Achievements |
We searched for mutations in Japanese patients with primary microcephaly using a next-generation sequencer, and found novel mutations in the WDR62/MCPH2 gene in the siblings. To study the functional role of WDR62 in neuronal development, we established a WDR62 knockout cell line using CRISPR/Cas9 system. The cell line showed abnormal mitotic spindle formation. This may result in depletion of neuronal progenitor cells, which lead to reduced brain size in early development.
|
Report
(4 results)
Research Products
(46 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] Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.2014
Author(s)
Miyamoto R, Morino H, Yoshizawa A, Miyazaki Y, Maruyama H, Murakami N, Fukada K, Izumi Y, Matsuura S, Kaji R, Kawakami H.
-
Journal Title
J Neurol Sci.
Volume: 337
Issue: 1-2
Pages: 219-223
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
[Presentation] Kinetics of radiation-induced DNA double strand break rejoining in DNA repair deficient cells2013
Author(s)
Ohara, M., Sakamoto, Y., Fukasaku, J., Komatsu, K., Matsuura, S., Tauchi, H.
Organizer
The 3rd international symposium of RIRBM, Hiroshima University
Place of Presentation
広島
Related Report
-
[Presentation] Artificial nuclease-based targeted DSB introduction and its application2013
Author(s)
Ochiai, H., Miyamoto, T., Kanai, A., Hosoba, K., Sakuma, T., Yamamoto, T., Matsuura, S.
Organizer
The 3rd international symposium of RIRBM, Hiroshima University
Place of Presentation
広島
Related Report
-
-
-
-
-
-
[Presentation] Establishment of human disease model cell lines by introduction of intergenic single nucleotide mutation using artificial nucleases2012
Author(s)
Ochiai, H., Miyamoto, T., Kanai, A., Hosoba, K., Sakuma, T., Noji, S., Yamamoto, T., Matsuura, S.
Organizer
第35回日本分子生物学会年会
Place of Presentation
福岡
Related Report
Invited
-
-
[Presentation] Role of MRE11/RAD50/NBS1 complex in regulation of ATM activation2012
Author(s)
Kobayashi, J., Fujimoto, H., Okui, M., Kato, T., Matsuura, S., Komatsu, K.
Organizer
第35回日本分子生物学会年会
Place of Presentation
福岡
Related Report