Analysis of structure-function relationships of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.
Project/Area Number |
25462712
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Ophthalmology
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Research Institution | Shiga 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)
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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.
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Report
(4 results)
Research Products
(36 results)
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[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.
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Journal Title
Jpn J Ophthalmol
Volume: 60
Issue: 3
Pages: 187-197
DOI
Related Report
Peer Reviewed / Open Access
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[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
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Journal Title
Human Mutat
Volume: 35
Pages: 1354-1362
DOI
Related Report
Peer Reviewed
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