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Analysis and induction of expression of L/M visual pigment genes in congenital color vision defects having a normal genotype.

Research Project

Project/Area Number 25462711
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Ophthalmology
Research InstitutionShiga University of Medical Science

Principal Investigator

Ueyama Hisao  滋賀医科大学, 医学部, 准教授 (30127013)

Co-Investigator(Kenkyū-buntansha) MURAKI Sanae  滋賀医科大学, 医学部, 講師 (90335175)
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywordscone / color vision / gene / mutation / splicing / opsin / 先天色覚異常 / 錐体視物質 / 甲状腺ホルモン / スプライシング / 錐体 / オプシン / 光学密度 / プロモーター / エキソンスキッピング / ナンセンス変異
Outline of Final Research Achievements

Among the 51 L/M visual pigment gene arrays in Japanese men with congenital color vision deficiency, 6 arrays had a normal order (L at the first position and M downstream). They had base substitutions such as -99T>G(1 case),+3A>C in intron 2 (1 case) and -71A>C (4 cases). The -99T>G and +3A>C substitutions were analyzed by gel-retardation assay and by using mini-genes, respectively. In the -71C substitution, activation of visual pigment gene promoter by thyroid hormone was not observed. We have already reported that exon 3 with a unique haplotype is skipped at splicing. Exon 3 which is retained at splicing and that skipped showed different pattern in the binding of SR proteins and hnRNP proteins. We found that some drugs can avoid skipping of exon 3 at splicing to some extent.

Report

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

    (23 results)

All 2016 2015 2014 Other

All Int'l Joint Research (1 results) Journal Article (7 results) (of which Peer Reviewed: 7 results,  Open Access: 4 results,  Acknowledgement Compliant: 1 results) Presentation (9 results) (of which Invited: 1 results) Book (6 results)

  • [Int'l Joint Research] UCL Institute of Ophthalmology(英国)

    • Related Report
      2015 Annual Research Report
  • [Journal Article] Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.2016

    • Author(s)
      Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y.
    • Journal Title

      Jpn J Ophthalmol

      Volume: 60 Issue: 3 Pages: 187-197

    • DOI

      10.1007/s10384-016-0424-6

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel mutations in the L visual pigment gene found in Japanese men with protan color-vision defect having a normal order L/M gene array.2016

    • Author(s)
      Muraki S, Ueyama H, Tanabe S, Yamade S, Ogita H, Ohji M.
    • Journal Title

      Ophthalmic Genet.

      Volume: in press Issue: 4 Pages: 471-472

    • DOI

      10.3109/13816810.2015.1120319

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Significance of serum Zn-α2-glycoprotein for the regulation of blood pressure.2015

    • Author(s)
      Kurita S, Takeuchi K, Hayashi Y, Ueyama H, Zankov DP, Pang X, Otsuka T, Ohkubo I, Ogikubo O, Ogita H
    • Journal Title

      Hypertens Res

      Volume: 38 Issue: 4 Pages: 244-251

    • DOI

      10.1038/hr.2014.165

    • Related Report
      2015 Annual Research Report 2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A new subset of deutan color-vision defect associated with an L/M visual pigment gene array of normal order and -71C substitution in the Japanese population.2015

    • Author(s)
      Ueyama H, Muraki S, Tanabe S, Yamade S, Ogita H.
    • Journal Title

      J Biochem

      Volume: in press Issue: 3 Pages: 197-204

    • DOI

      10.1093/jb/mvv034

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Long-term outcomes of three cases that underwent a muscle transposition procedure without tenotomy caused by abducens palsy2015

    • Author(s)
      Higashiyama T, Nishida Y, Muraki S, Ohji M
    • Journal Title

      Neuro Ophthalmol

      Volume: 39 Pages: 26-29

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants2014

    • Author(s)
      Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ
    • Journal Title

      Human Mutat

      Volume: 35 Pages: 1354-1362

    • DOI

      10.1002/humu.22679

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Evaluation of Acquired color vision deficiency in glaucoma using the Rabin cone contrast test2014

    • Author(s)
      Niwa Y, Muraki S, Naito F, Minamikawa T, Ohji M
    • Journal Title

      Invest Ophthalmol Vis Sci

      Volume: 55 Issue: 10 Pages: 6686-6690

    • DOI

      10.1167/iovs.14-14079

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Presentation] スプライシングでのエキソンスキッピングによる先天色覚異常2015

    • Author(s)
      上山久雄、村木早苗、田邊詔子、山出新一、扇田久和
    • Organizer
      BMB2015(第88回日本生化学会大会、第38回日本分子生物学会年会合同大会)
    • Place of Presentation
      神戸市
    • Year and Date
      2015-12-01
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] 日本人先天色覚異常におけるL/M視物質遺伝子アレーの解析2014

    • Author(s)
      上山久雄, 村木早苗, 田邊詔子,山出新一,扇田久和
    • Organizer
      第87回日本生化学会大会
    • Place of Presentation
      京都市
    • Year and Date
      2014-10-15 – 2014-10-18
    • Related Report
      2014 Research-status Report
  • [Presentation] Correlation of serum Zn-a2-glycoprotein concentration with blood pressure and biochemical analysis on the correlation2014

    • Author(s)
      栗田宗一、竹内圭介、上山久雄、大久保岩男、荻久保修、扇田久和
    • Organizer
      第87回日本生化学会大会
    • Place of Presentation
      京都市
    • Year and Date
      2014-10-15 – 2014-10-18
    • Related Report
      2014 Research-status Report
  • [Presentation] M視物質遺伝子のL型エキソン2はM視物質の発現量を減少させる2014

    • Author(s)
      上山久雄、村木早苗、田邊詔子、山出新一、扇田久和
    • Organizer
      第61回日本生化学会近畿支部例会
    • Place of Presentation
      京都市
    • Year and Date
      2014-05-17
    • Related Report
      2014 Research-status Report
  • [Presentation] Genotype-Phenotype Comparison and Functional Investigation of Cone Opsin Variants2014

    • Author(s)
      Gardner JC, Liew G, Quan Y, Ueyama H, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ
    • Organizer
      ARVO 2014年年会
    • Place of Presentation
      米国フロリダ州Orlando
    • Year and Date
      2014-05-03 – 2014-05-07
    • Related Report
      2014 Research-status Report
  • [Presentation] Evaluation of acquired color vision defects of glaucoma using cone contrast test2014

    • Author(s)
      Niwa Y, Muraki S, Ohji M
    • Organizer
      WOC 2014
    • Place of Presentation
      東京
    • Year and Date
      2014-04-04
    • Related Report
      2014 Research-status Report
  • [Presentation] 杆体一色覚における網膜錐体cGMP依存性カチオンチャネルの変異の機能的解析

    • Author(s)
      村木早苗、上山久雄、豊田太、山出新一、扇田久和、大路正人
    • Organizer
      第117回日本眼科学会
    • Place of Presentation
      東京
    • Related Report
      2013 Research-status Report
  • [Presentation] Genotype-phenotype comparison and functional investigation of cone opsin variants

    • Author(s)
      Gardner JC, Liew G, Quan Y, Ueyama H, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle A
    • Organizer
      ARVO (Association for Research in Vision and Ophthalmology) 2014
    • Place of Presentation
      Orlando, FL, USA
    • Related Report
      2013 Research-status Report
  • [Presentation] M視物質遺伝子のL型エキソン2はM視物質の発現量を減少させる

    • Author(s)
      上山久雄、村木早苗、田邊詔子、山出新一、扇田久和
    • Organizer
      第61回日本生化学会近畿支部例会
    • Place of Presentation
      京都
    • Related Report
      2013 Research-status Report
  • [Book] 「光と生命の事典」 118. 色覚2016

    • Author(s)
      上山久雄
    • Total Pages
      2
    • Publisher
      朝倉書店
    • Related Report
      2015 Annual Research Report
  • [Book] 眼科診療クオリファイ 26 ロービジョンケアの実際.マイクロペリメトリ2015

    • Author(s)
      村木早苗
    • Total Pages
      4
    • Publisher
      中山書店
    • Related Report
      2015 Annual Research Report
  • [Book] 眼科診療クオリファイ 26 ロービジョンケアの実際.偏心視訓練2015

    • Author(s)
      村木早苗
    • Total Pages
      4
    • Publisher
      中山書店
    • Related Report
      2015 Annual Research Report
  • [Book] こどもの病気 遺伝について聞かれたら 61 色覚異常.2015

    • Author(s)
      村木早苗
    • Total Pages
      3
    • Publisher
      診断と治療社
    • Related Report
      2015 Annual Research Report
  • [Book] 総合小児医療カンパニア 移行期医療 子どもから成人への架け橋を支える2015

    • Author(s)
      村木早苗
    • Total Pages
      7
    • Publisher
      中山書店
    • Related Report
      2015 Annual Research Report
  • [Book] 小児眼科書 第2章 視機能の発達と検査「色覚」28-33頁、第28章 色覚異常2015

    • Author(s)
      村木早苗
    • Total Pages
      7
    • Publisher
      三輪書店
    • Related Report
      2015 Annual Research Report

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Published: 2014-07-25   Modified: 2022-01-31  

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