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The functional role of BRAF in cardiac development and bone formation

Research Project

Project/Area Number 15K19598
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

Inoue Shin-ichi  東北大学, 医学系研究科, 助教 (70622091)

Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
KeywordsCFC症候群 / RASopathies / RAS/MAPKシグナル伝達経路 / BRAF / 先天性心疾患 / 疾患モデルマウス / 遺伝性疾患 / マウスモデル / 肥大型心筋症 / 骨格形成異常 / 成長障害
Outline of Final Research Achievements

Germline mutations in BRAF have been identified in 70% of patients with cardio-facio-cutaneous (CFC) syndrome, which is characterized by heart defects, distinctive facial features, short stature and ectodermal abnormalities. We recently demonstrated that mice expressing a Braf Q241R mutation on a C57BL/6J background are embryonic/neonatal lethal, with multiple congenital defects, preventing us from analyzing the phenotypic consequences after birth. Here, to further explore the pathogenesis of CFC syndrome, we backcrossed these mice onto an ICR genetic background. The BrafQ241R/+ ICR mice exhibited growth retardation, sparse and ruffled fur, a hunched appearance, craniofacial dysmorphism and heart defects, including pulmonary stenosis and atrial septal defects. These data suggest that the heterozygous BrafQ241R/+ ICR mice show similar phenotypes as CFC syndrome after birth and will be useful for elucidating the pathogenesis and potential therapeutic strategies for CFC syndrome.

Report

(3 results)
  • 2017 Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report

Research Products

(3 results)

All 2016 2015

All Journal Article Presentation

  • [Journal Article] Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype2015

    • Author(s)
      Moriya M, Inoue S, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y.
    • Journal Title

      Human molecular genetics

      Volume: 24 Pages: 7349-60

    • DOI

      10.1093/hmg/ddv435

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Presentation] Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype2016

    • Author(s)
      Shin-ichi Inoue
    • Organizer
      The 13th International Congress of Human Genetics
    • Place of Presentation
      京都国際会館(京都)
    • Year and Date
      2016-04-03
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] がん原遺伝子BRAFの機能獲得性変異は先天性異常を引き起こす2015

    • Author(s)
      井上晋一
    • Organizer
      第38回日本分子生物学会年会
    • Place of Presentation
      神戸ポートアイランド(神戸)
    • Year and Date
      2015-12-01
    • Related Report
      2015 Research-status Report

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

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