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Functional analysis of GDD1 gene responsible for gnathodiaphyseal dysplasia(GDD)

Research Project

Project/Area Number 20791517
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Surgical dentistry
Research InstitutionHiroshima University

Principal Investigator

MIZUTA Kuniko  Hiroshima University, 大学院・医歯薬学総合研究科, 助教 (40432679)

Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2010: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2009: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2008: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords遺伝子 / 発生・分化 / 細胞・組織 / 骨系統疾患 / 遺伝子機能解析 / GDD / GDD1遺伝子 / 遺伝子解析
Research Abstract

In this study, we generated specific antibodies against the human GDDI protein. As an essential step toward elucidating the molecular functions of GDDI gene, we also made the GDD1 expression vector and had been tried to establish stable expression system of GDDI protein in the cultured cell. The GDDI protein was easily degraded in the cell, and the protein detection was difficult. Therefore, the physiological and molecular biochemical functions of GDDI gene have been uncertain. However, our recent study led to identify that GDD1 gene was also the responsible gene of proximal limb girdle muscular dystrophy (LGMD2L) of which the symptom was a muscular atrophy, and the GDDI gene was demonstrated to play important roles in the skeletal muscle homeostasis maintenance by the expression experiment using the myoblastic cell line.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (10 results)

All 2010 2009 2008

All Journal Article (2 results) (of which Peer Reviewed: 2 results) Presentation (8 results)

  • [Journal Article] Recessive mutations in the putativecalcium-activated chloride channelAnoctamin 5 cause proximal LGMD2L anddistal MMD3 muscular dystrophies.2010

    • Author(s)
      Bolduc V, Marlow G, Boycott KIVI, SalekiK, Inoue H, Kroon J, Itakura M,Robitaille Y, Parent L, Baas F, MizutaK, Kamata N, Richard I, Linssen WH,Mahjneh I, de Visser M, Bashir R, Brais B
    • Journal Title

      Am J.Hum Genet. 86(2)

      Pages: 213-21

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.2010

    • Author(s)
      Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B
    • Journal Title

      Am J Hum Genet.

      Volume: 86(2) Pages: 213-221

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Presentation] 顎骨骨幹異形成症原因遺伝子GDD1の細胞内発現と機能解析2010

    • Author(s)
      TA TO TRAN, 飛梅圭, 藤本伸一, 水田邦子, 廣野力, 杉田誠, 鎌田伸之
    • Organizer
      第47回日本口腔組織培養学会学術大会
    • Place of Presentation
      高知
    • Year and Date
      2010-11-13
    • Related Report
      2010 Final Research Report
  • [Presentation] 顎骨骨幹異形成症原因遺伝子GDD1/GDD1の細胞内および組織内発現についての検討2010

    • Author(s)
      藤本伸一, 飛梅圭, 廣野力, 水田邦子, 鎌田伸之
    • Organizer
      第28回日本骨代謝学会
    • Place of Presentation
      東京
    • Year and Date
      2010-07-23
    • Related Report
      2010 Final Research Report
  • [Presentation] 顎骨骨幹異形成症原因遺伝子GDD1/GDD1の機能解析2010

    • Author(s)
      藤本伸一, 飛梅圭, 廣野力, 水田邦子,TA TO TRAN, 柴芳樹, 鎌田伸之
    • Organizer
      第64回日本口腔科学会学術集会・学術総会
    • Place of Presentation
      札幌
    • Related Report
      2010 Final Research Report
  • [Presentation] Molecular characterizationof GDDI/GDD1, the gene product responsiblefor autosomal dominant gnathodiaphyseal dysplasia.2010

    • Author(s)
      Fujimoto S, Shiba T, Hirono C, MizutaK,Kamata N
    • Organizer
      biodentist
    • Place of Presentation
      hiroshima
    • Related Report
      2010 Final Research Report
  • [Presentation] 顎骨骨幹異形成症原因遺伝子GDD1のマウス歯・歯周組織における免疫組織化学的発現解析2009

    • Author(s)
      水田邦子, 藤本伸一, 鎌田伸之
    • Organizer
      第54回(社)日本口腔外科学会総会
    • Place of Presentation
      札幌
    • Year and Date
      2009-10-09
    • Related Report
      2010 Final Research Report
  • [Presentation] 顎骨骨幹異形成症原因遺伝子GDD1のマウス歯・歯周組織における免疫組織化学的発現解析2009

    • Author(s)
      水田邦子
    • Organizer
      第54回(社)日本口腔外科学会総会・学術大会
    • Place of Presentation
      札幌
    • Year and Date
      2009-10-09
    • Related Report
      2009 Annual Research Report
  • [Presentation] Immunohistochemical localization of GDD1 gene product2008

    • Author(s)
      水田邦子
    • Organizer
      第86回国際歯科学研究学会議(IADR)
    • Place of Presentation
      カナダ・トロント
    • Year and Date
      2008-07-03
    • Related Report
      2008 Annual Research Report
  • [Presentation] Immunohistochemicallocalization of GDDl gene product2008

    • Author(s)
      Mizuta K, Inoue H, Fujimoto S, ItakuraM, Kamata N.
    • Organizer
      International Association for Dental Research 86Th general session andexhibition.
    • Place of Presentation
      Metro Torontoconvention centre, Canada
    • Related Report
      2010 Final Research Report

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Published: 2008-04-01   Modified: 2016-04-21  

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