title: Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
abstract: The DNAs from 217 Japanese males with congenital red/green color-vision deficiencies were analyzed. Twenty-three subjects had the normal genotype of a single red gene, followed by a green gene. Four of the 23 were from the 69 protan subject group and 19 of the 23 were from the 148 deutan subject group. Three of the 23 subjects had missense mutations. The mutation Asn94Lys (AAC-->AAA) occurred in the single green gene of a deutan subject (A155). The Arg330Gln (CGA-->CAA) mutation was detected in both green genes of another deutan subject (A164). The Gly338Glu (GGG-->GAG) mutation occurred in the single red gene of a protan subject (A89). Both normal and mutant opsins were expressed in cultured COS-7 cells and visual pigments were regenerated with 11-cis-retinal. The normal red and green opsins showed absorbance spectra with lambda(max) of 560 and 530 nm, respectively, but the three mutant opsins had altered spectra. The mutations in Asn94Lys and Gly338Glu resulted in no absorbance and the Arg330Gln mutation gave a low absorbance spectrum with a lambda(max) of 530 nm. Therefore these three mutant opsins are likely to be affected in the folding process, resulting in a loss of function as a visual pigment.
authors.affiliation: Department of Medical Biochemistry, Shiga University of Medical Science, Seta, Otsu 520-2192, Japan. datt@belle.shiga-med.ac.jp
authors.forename: Hisao
authors.initials: H
authors.lastname: Ueyama
authors.forename: Shigeki
authors.initials: S
authors.lastname: Kuwayama
authors.forename: Hiroo
authors.initials: H
authors.lastname: Imai
authors.forename: Shoko
authors.initials: S
authors.lastname: Tanabe
authors.forename: Sanae
authors.initials: S
authors.lastname: Oda
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Nishida
authors.forename: Akimori
authors.initials: A
authors.lastname: Wada
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Shichida
authors.forename: Shinichi
authors.initials: S
authors.lastname: Yamade
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D019556:COS Cells; D002793:Cholic Acids / Q000737:chemistry; D003117:Color Vision Defects / Q000151:congenital* / Q000235:genetics*; D004252:DNA Mutational Analysis; D015870:Gene Expression; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017299:Rod Opsins / Q000737:chemistry / Q000235:genetics*; D013045:Species Specificity; D013053:Spectrophotometry; D014162:Transfection; D014714:Vertebrates
chemical_list: D002793:Cholic Acids; D017299:Rod Opsins; C028213:3-((3-cholamidopropyl)dimethylammonium)-1-propanesulfonate