Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies

Biochemical and Biophysical Research Communications

Volumn 294, Issue 2, 2002, Pages 205-209

  Ueyama, Hisao ^a   Kuwayama, Shigeki ^b,c   Imai, Hiroo ^b,c   Tanabe, Shoko ^d   Oda, Sanae ^a   Nishida, Yasuhiro ^a   Wada, Akimori ^e   Shichida, Yoshinori ^b,c   Yamade, Shinichi ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^d JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^e KOBE PHARMACEUTICAL UNIVERSITY   (Japan)

Author keywords

11 cis Retinal; Congenital color vision deficiency; Deutan; In vitro expression; Mutation; Opsin; Protan; Spectrophotometry; Visual pigment gene

Indexed keywords

11 CIS RETINAL; ARGININE; GLUTAMIC ACID; GLUTAMINE; GLYCINE; OPSIN; VISUAL PIGMENT;

ARTICLE; CELL STRAIN COS7; COLOR VISION DEFECT; CONTROLLED STUDY; GENE; GENOTYPE; GREEN GENE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN FOLDING; RED GENE;

AMINO ACID SUBSTITUTION; ANIMALS; CHOLIC ACIDS; COLOR VISION DEFECTS; COS CELLS; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; GENOTYPE; HUMANS; JAPAN; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPSIN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPECIES SPECIFICITY; SPECTROPHOTOMETRY; TRANSFECTION; VERTEBRATES;

EID: 0036295772     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-291X(02)00458-8     Document Type: Article

References (19)

1. Genotype-phenotype relationships in human red/green color-vision defects: Molecular and psychophysical studies
2. Defective colour vision associated with a missense mutation in the human green visual pigment gene
3. Number and variations of the red and green visual pigment genes in Japanese males with normal color vision
4. Number and arrangement of the red and green visual pigment genes in color-normal Japanese males
5. Detection of female carriers of congenital color-vision deficiencies by visual pigment gene analysis
6. Red-green pigment gene analysis as a clinical diagnostic tool
7. Site-directed mutagenesis by overlap extension using the polymerase chain reaction
8. Cleavage of structural proteins during the assembly of the head of bacteriophage T4
9. Convergent evolution of the red-and green-like visual pigment genes in fish, Astyanax fasciatus, and human
10. Severity of color vision defects: Electroretinographic (ERG), molecular and behavioral studies
11. The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes
12. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin
13. In the eye of the beholder: Visual pigments and inherited variation in human vision
14. Genetic heterogeneity among blue-cone monochromats
15. Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa
16. Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain
17. Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa
18. Crystal structure of rhodopsin: A G protein-coupled receptor
19. Absorption spectra of the hybrid pigments responsible for anomalous color vision