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Trisomic rescue induction by allele-specific chromosome breakage using genome editing technique

Research Project

Project/Area Number 16K15242
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Human genetics
Research InstitutionMie University

Principal Investigator

Hara Mari  三重大学, 医学部, 教務職員 (30176383)

Co-Investigator(Kenkyū-buntansha) 脇田 幸子  三重大学, 医学部, 技術員 (20782981)
Co-Investigator(Renkei-kenkyūsha) Hashizume Ryotaro  三重大学, 大学院医学系研究科, 助教 (50456662)
Ichishi Masako  三重大学, 医学部, 技術専門員 (80632372)
Miyagawa yoshitaka  日本医科大学, 大学院医学系研究科, 講師 (90415604)
Inui masafumi  国立研究開発法人国立成育医療センター, システム発生/再生医学研究部, 室長 (20643498)
Project Period (FY) 2016-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywordsトリソミックレスキュー / ハプロタイプフェイジング / 核型正常化 / CRISPR/Cas9 / ゲノム編集 / Cre-loxP / 遺伝子 / 染色体治療
Outline of Final Research Achievements

We have successfully established three induced disomy 21 iPS cell lines by genome editing technology from the original trisomy 21 iPS cells derived from a single individual with Down's syndrome. These induced three types of cells have different combinations of 21 chromosomes. The karyotypes of the induced disomy cells have been confirmed by means of chromosome spreading G-banding, short tandem repeat analysis, multiplex ligation-dependent probe amplification, and fluorescent in situ hybridization. Furthermore, we also classified them based upon the origin of deleted chromosome 21 by STR analysis. Following chromosome phasing by comparison of sequencing data with the 3 cell lines, we have subsequently succeeded in constructing a CRISPR/Cas 9 system for allele specific cleavage in multiple sites.

Report

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

    (2 results)

All 2018

All Presentation (2 results)

  • [Presentation] 染色体消去による21番染色体のchromosome phasingの試み2018

    • Author(s)
      脇田幸子
    • Organizer
      第25回日本遺伝子診療学会大会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 染色体消去によるトリソミックレスキュー技術の構築2018

    • Author(s)
      脇田幸子
    • Organizer
      日本人類遺伝学会第63回大会
    • Related Report
      2017 Annual Research Report

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Published: 2016-04-21   Modified: 2019-03-29  

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