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

2015 Fiscal Year Final Research Report

• 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
• Keywords: cone / color vision / gene / mutation / splicing

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.

Free Research Field

molecular biology