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Abnormal transcriptional regulation in Cockayne syndrome and its effect on neuronal differentiation

Research Project

Project/Area Number 15K06758
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Nerve anatomy/Neuropathology
Research InstitutionThe University of Tokushima (2016-2017)
Oita University (2015)

Principal Investigator

HASHIMOTO Satoru  徳島大学, 病院, 特任講師 (60352150)

Co-Investigator(Kenkyū-buntansha) 花田 克浩  大分大学, 医学部, 助教 (90581009)
高成 広起  徳島大学, 病院, 特任講師 (70723253)
寺林 健  大分大学, 医学部, 助教 (40452429)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywordsコケイン症候群
Outline of Final Research Achievements

Cockayne syndrome is a rare autosomal recessive disease with a mutation on DNA repair genes against UV induced DNA lesions. Since Cockayne syndrome has multiple phenotypes, the pathophysiological symptoms of Cockayne syndrome patients are rather complicated. To explore the new function of Cockayne synfrome genes, we investigated the cell-differentiation experiments using SH-SY5Y cells. We success to established mild and severe Cockayne syndrome model cells using CRISPR system against CSB gene, and found the difference between mild and severe model cells upon cell differentiation inducing factors.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (3 results)

All 2017 2016 Other

All Int'l Joint Research (1 results) Journal Article (2 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 2 results,  Open Access: 1 results)

  • [Int'l Joint Research] IGBMC(France)

    • Related Report
      2017 Annual Research Report
  • [Journal Article] MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression2017

    • Author(s)
      Donnio LM, Bidon B, Hashimoto S, May M, Epantchintsev A, Ryan C, Allen W, Hackett A, Gecz J, Skinner C, Stevenson RE, de Brouwer AP, Coutton C, Francannet C, Jouk PS, Schwartz CE, Egly JM
    • Journal Title

      Hum Mol Genet

      Volume: 印刷中 Issue: 11 Pages: 2062-2075

    • DOI

      10.1093/hmg/ddx099

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Mechanisms of interstrand DNA crosslink repair and human disorders2016

    • Author(s)
      Hashimoto S, Anai H, Hanada K
    • Journal Title

      Genes Environ

      Volume: 38 Issue: 1 Pages: 9-9

    • DOI

      10.1186/s41021-016-0037-9

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access

URL: 

Published: 2015-04-16   Modified: 2019-03-29  

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