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Investigation of a new mechanism of age-related macular degeneration using a rat model of retinal photic injury: targeted exome analysis for a responsible genomic region

Research Project

Project/Area Number 25462708
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Ophthalmology
Research InstitutionHamamatsu University School of Medicine

Principal Investigator

Ohishi Kentaro  浜松医科大学, 光尖端医学教育研究センター, 助教 (80345826)

Co-Investigator(Kenkyū-buntansha) 大坪 正史  浜松医科大学, 光尖端医学教育研究センター, 助教 (10327653)
尾花 明  浜松医科大学, 光尖端医学教育研究センター, 客員教授 (40194625)
堀田 喜裕  浜松医科大学, 医学部, 教授 (90173608)
蓑島 伸生  浜松医科大学, 光尖端医学教育研究センター, 教授 (90181966)
Project Period (FY) 2013-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords網膜光障害 / ラット / 戻し交配 / 系統差 / 責任遺伝子 / エキソーム解析 / 加齢黄斑変性 / 次世代シーケンサー / 網膜変性 / 感受性遺伝子 / 光 / 連続戻し交配
Outline of Final Research Achievements

PURPOSE: To identify genes for photic injury susceptibility of rat retina, eventually to elucidate an etiology for age-related macular degeneration (AMD). METHODS: A retinal degeneration size showing the susceptibility was evaluated on pathological specimens. A targeted exome analysis was performed with MiSeq system (illumina, Inc.). RESULTS: We performed the targeted exome analysis for 3.8-Mb Rpi1 region among resistant (LEW) and susceptible (WKY and F344) strains and found 3 loci with non-synonymous base changes in 2 genes. In parallel, obtained BC9 offspring had a 284-kb WKY genome region as a sole WKY component, and in which only 1 locus in 1 gene (tentatively gene R) was narrowed down. CONCLUSION: We consider that the gene R is Rpi1 itself. The gene R has never been reported as the susceptibility gene of AMD. We are now extensively making efforts to give more direct evidence for the gene R as the causal gene of rat retinal photic injury and possible relationship with AMD.

Report

(5 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (13 results)

All 2017 2016 2015 2014 2013

All Journal Article (1 results) (of which Peer Reviewed: 1 results) Presentation (11 results) Patent(Industrial Property Rights) (1 results)

  • [Journal Article] Interaction between optineurin and the bZIP transcription factor NRL2014

    • Author(s)
      Wang C, Hosono K, Ohtsubo M, Ohishi K, Gao J, Nakanishi N, Hikoya A, Sato M, Hotta Y, Minoshima S.
    • Journal Title

      Cell Biol. Int.

      Volume: 38(1) Issue: 1 Pages: 16-25

    • DOI

      10.1002/cbin.10174

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] ラット網膜光障害感受性を支配する遺伝子多型の探索2016

    • Author(s)
      大石健太郎,大坪正史,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第39回日本分子生物学会総会
    • Place of Presentation
      横浜
    • Year and Date
      2016-11-30
    • Related Report
      2016 Annual Research Report
  • [Presentation] ラット網膜光障害の感受性遺伝子領域の領域限定エキソーム解析2016

    • Author(s)
      大石健太郎,大坪正史,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第120回日本眼科学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2016-04-07
    • Related Report
      2016 Annual Research Report
  • [Presentation] ラット網膜光障害の感受性遺伝子領域の領域限定エキソーム解析2016

    • Author(s)
      大石健太郎、大坪正史、細野克博、尾花 明、堀田喜裕、蓑島伸生
    • Organizer
      日本眼科学会
    • Place of Presentation
      仙台
    • Year and Date
      2016-04-07
    • Related Report
      2015 Research-status Report
  • [Presentation] ラット網膜光障害感受性の責任遺伝子(Rpi1) 領域の限局化2015

    • Author(s)
      大石健太郎、細野克博、尾花 明、堀田喜裕、平光忠久、蓑島伸生
    • Organizer
      BMB2015
    • Place of Presentation
      神戸
    • Year and Date
      2015-12-01
    • Related Report
      2015 Research-status Report
  • [Presentation] 加齢黄斑変性と網膜光障害の関連遺伝子の追究: 易罹患性診断への応用を目指して2015

    • Author(s)
      大石健太郎、細野克博、尾花 明、堀田喜裕、平光忠久、蓑島伸生
    • Organizer
      日本遺伝子診療学会
    • Place of Presentation
      横浜
    • Year and Date
      2015-07-18
    • Related Report
      2015 Research-status Report
  • [Presentation] ラット網膜光障害の感受性を支配する責任遺伝子の追究2014

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第37回日本分子生物学年会
    • Place of Presentation
      横浜
    • Year and Date
      2014-11-25 – 2014-11-28
    • Related Report
      2014 Research-status Report
  • [Presentation] 加齢黄斑変性と網膜光障害の関連遺伝子探索2014

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      2014年度-夏の研究会(COI-Sプログラム)
    • Place of Presentation
      岡崎
    • Year and Date
      2014-09-04 – 2014-09-05
    • Related Report
      2014 Research-status Report
  • [Presentation] ラット網膜光障害感受性を支配する責任遺伝子領域の限局化2014

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第118回日本眼科学会
    • Place of Presentation
      東京
    • Year and Date
      2014-04-02 – 2014-04-06
    • Related Report
      2014 Research-status Report 2013 Research-status Report
  • [Presentation] Mapping Susceptibility Loci to Rat Retinal Photic Injury2013

    • Author(s)
      Ohishi, K., Hosono, K., Obana, A., Hotta, Y., Hiramitsu, T., Minoshima, T.
    • Organizer
      1st International Symposium on Blue Light Society
    • Place of Presentation
      東京
    • Related Report
      2013 Research-status Report
  • [Presentation] ラット網膜光障害の感受性に関与する遺伝子の追究2013

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第35回日本光医学・光生物学会
    • Place of Presentation
      浜松
    • Related Report
      2013 Research-status Report
  • [Presentation] ラット網膜光障害感受性の責任遺伝子領域の限局化:加齢黄斑変性の易罹患性の遺伝子診断に向けて2013

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第20回日本遺伝子診療学会
    • Place of Presentation
      浜松
    • Related Report
      2013 Research-status Report
  • [Patent(Industrial Property Rights)] 加齢黄斑変性の発症リスクの評価方法2017

    • Inventor(s)
      大石健太郎
    • Industrial Property Rights Holder
      国立大学法人浜松医科大学
    • Industrial Property Rights Type
      特許
    • Filing Date
      2017-03-10
    • Related Report
      2016 Annual Research Report

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Published: 2014-07-25   Modified: 2019-07-29  

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