| Project/Area Number |
25462711
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Shiga University of Medical Science |
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Principal Investigator |
Ueyama Hisao 滋賀医科大学, 医学部, 准教授 (30127013)
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| Co-Investigator(Kenkyū-buntansha) |
MURAKI Sanae 滋賀医科大学, 医学部, 講師 (90335175)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| 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)
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| Keywords | cone / 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 |
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| 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.
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