Analysis and induction of expression of L/M visual pigment genes in congenital color vision defects having a normal genotype.
| Project/Area Number |
25462711
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Ophthalmology
|
|---|
| Research Institution | Shiga 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)
|
|---|
| 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 |
|---|
| 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)
Research Products
(23 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
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
[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
Related Report
Peer Reviewed
-
-
-
-
-
-
-
-
-
[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
-
-
-
-
-
-
-
