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Analysis of structure-function relationships of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.

Research Project

Project/Area Number 25462712
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

Muraki Sanae  滋賀医科大学, 医学部, 講師 (90335175)

Co-Investigator(Kenkyū-buntansha) 上山 久雄  滋賀医科大学, 医学部, 准教授 (30127013)
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords杆体1色覚 / cGMP依存性カチオンチャネル / CNGA3 / CNGB3 / パッチクランプ法 / 杆体一色覚 / GNAT2 / PDE6C / PDE6H
Outline of Final Research Achievements

Mutations in the α subunit of cone cyclic nucleotide-gated channel cause rod monochromacy. About 90 missense mutations are known in the α subunit, and they are thought to be useful for elucidation of structure-function relationships in the subunit. HEK293 cells that constitutively express α subunit with a missense mutation were established, and function of the mutant channel was assessed by using a Ca2+-sensor. With regard to function (+) channels, their function was studied in detail by using the patch-clamp technique. With regard to function (-) channels, it was examined whether culture of the cells at low temperature (28℃) could rescue channel function. Some mutant channels showed function by the culture. It was found from the analysis using labeling of cell surface proteins and mutant channels by biotin and HaloTag ligand, respectively, that such a rescue is a consequence of improvement of intracellular trafficking.

Report

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

    (36 results)

All 2016 2015 2014 Other

All Journal Article (8 results) (of which Peer Reviewed: 8 results,  Open Access: 4 results,  Acknowledgement Compliant: 1 results) Presentation (20 results) (of which Invited: 3 results) Book (8 results)

  • [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] 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] 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] Long-term outcomes of three cases that underwent a muscle transposition procedure without tenotomy caused by abducens palsy.2015

    • Author(s)
      Tomoaki Higashiyama, Yasuhiro Nishida, Sanae Muraki, Masahito Ohji
    • Journal Title

      Neuro Ophthalmol

      Volume: 39 Issue: 1 Pages: 26-29

    • DOI

      10.3109/01658107.2014.970284

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A new subset of deutan colour 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: ―

    • NAID

      40020593497

    • 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
  • [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
  • [Presentation] 合同教育セミナー 網膜硝子体疾患の撮りかた、見かた「色覚を診る」.2015

    • Author(s)
      村木早苗
    • Organizer
      第54回日本網膜硝子体学会・第32回日本眼循環学会 合同学会
    • Place of Presentation
      東京
    • Year and Date
      2015-12-06
    • Related Report
      2015 Annual Research Report
    • Invited
  • [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
      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
  • [Presentation] 診断後の指導 遺伝について.インストラクションコース 学校健診における色覚検査のあり方と臨床診断および指導.2015

    • Author(s)
      村木早苗
    • Organizer
      第69回日本臨床眼科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-10-24
    • Related Report
      2015 Annual Research Report
  • [Presentation] 年代別健常眼におけるCone Contrast Testを用いた色覚検査.2015

    • Author(s)
      藤川正人、丹羽雄一、村木早苗、大路正人
    • Organizer
      第69回日本臨床眼科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-10-23
    • Related Report
      2015 Annual Research Report
  • [Presentation] 先天色覚異常2色覚におけるCone Contrast Test の検討.2015

    • Author(s)
      藤川正人、村木早苗、丹羽雄一、山出新一、大路正人
    • Organizer
      第69回日本臨床眼科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-10-23
    • Related Report
      2015 Annual Research Report
  • [Presentation] 眼科検査法 色覚検査2015

    • Author(s)
      村木早苗
    • Organizer
      第27回日本小児眼科学会
    • Place of Presentation
      神戸市
    • Year and Date
      2015-07-04
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] ひとりでできる小児弱視斜視外来―経過観察の仕方― フレネル膜を使ってみよう2015

    • Author(s)
      村木早苗
    • Organizer
      第31回日本弱視斜視学会
    • Place of Presentation
      神戸市
    • Year and Date
      2015-07-04
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] UBMの所見が診断に有効であった単純水晶体偏位の一例.2015

    • Author(s)
      南 真弓、村木早苗、東山智明、大路正人
    • Organizer
      第71回日本弱視斜視学会総会・第40回日本小児眼科学会総会 合同学会
    • Place of Presentation
      神戸市
    • Year and Date
      2015-07-03
    • Related Report
      2015 Annual Research Report
  • [Presentation] ステロイド治療を施行した甲状腺眼症の外眼筋信号強度と眼球運動の相関.2015

    • Author(s)
      東山智明、西田保裕、村木早苗、大路正人
    • Organizer
      第71回日本弱視斜視学会総会・第40回日本小児眼科学会総会 合同学会
    • Place of Presentation
      神戸市
    • Year and Date
      2015-07-03
    • Related Report
      2015 Annual Research Report
  • [Presentation] 正常な並びの視色素遺伝子アレーを持つ1型色覚におけるL遺伝子の解析2015

    • Author(s)
      村木早苗、上山久雄、田辺詔子、山出新一、扇田久和、大路正人
    • Organizer
      第119回日本眼科学会総会
    • Place of Presentation
      札幌市
    • Year and Date
      2015-04-17 – 2015-04-19
    • Related Report
      2014 Research-status Report
  • [Presentation] 年代別健常眼におけるCone Contrast Testを用いた色覚検査2015

    • Author(s)
      藤川正人、丹羽雄一、村木早苗、大路正人
    • Organizer
      第119回日本眼科学会総会
    • Place of Presentation
      札幌市
    • Year and Date
      2015-04-17 – 2015-04-19
    • Related Report
      2014 Research-status Report
  • [Presentation] 正常な並びの視色素遺伝子アレーを持つ1型色覚におけるL遺伝子の解析.2015

    • Author(s)
      村木早苗、上山久雄、田邉詔子、山出新一、扇田久和、大路正人
    • Organizer
      第119回日本眼科学会総会
    • Place of Presentation
      札幌市
    • Year and Date
      2015-04-16
    • Related Report
      2015 Annual Research Report
  • [Presentation] 年代別健常眼におけるCone Contrast Testを用いた色覚検査.2015

    • Author(s)
      藤川正人、丹羽雄一、村木早苗、大路正人
    • Organizer
      第119回日本眼科学会総会
    • Place of Presentation
      札幌市
    • Year and Date
      2015-04-16
    • Related Report
      2015 Annual Research Report
  • [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] 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
    • Place of Presentation
      米国 フロリダ州
    • 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 test.2014

    • Author(s)
      Yuichi Niwa, Sanae Muraki, Fumiyuki Naito, Takahiro Minamikawa, Masahito Ohji
    • Organizer
      WOC
    • Place of Presentation
      東京
    • Year and Date
      2014-04-06
    • 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

    • Author(s)
      Gardner JC, Liew G, Quan Y, Ueyama H, Liebelt J, Ruddle JB, Moore AT,
    • Organizer
      ARVO (Association for Research in Vision and Ophthalmology) 2014
    • Place of Presentation
      アメリカ オーランド
    • 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2015

    • Author(s)
      村木早苗
    • Total Pages
      8
    • 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2015

    • Author(s)
      村木早苗
    • Total Pages
      13
    • Publisher
      三輪書店
    • 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
      249
    • Publisher
      診断と治療
    • Related Report
      2014 Research-status 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
      313
    • Publisher
      中山書店
    • Related Report
      2014 Research-status 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
      313
    • Publisher
      中山書店
    • Related Report
      2014 Research-status Report

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

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