The molecular basis of variation in human color vision

  title={The molecular basis of variation in human color vision},
  author={S S Deeb},
  journal={Clinical Genetics},
  • S. Deeb
  • Published 1 May 2005
  • Biology
  • Clinical Genetics
Common variation in red‐green color vision exists among both normal and color‐deficient subjects. Differences at amino acids involved in tuning the spectra of the red and green cone pigments account for the majority of this variation. One source of variation is the very common Ser180Ala polymorphism that accounts for two spectrally different red pigments and that plays an important role in variation in normal color vision as well as in determining the severity of defective color vision. This… 

Genetics of variation in human color vision and the retinal cone mosaic.

  • S. Deeb
  • Biology
    Current opinion in genetics & development
  • 2006

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L and M cone proportions in polymorphic New World monkeys

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The genotypic variation in 50 red-green color vision deficient males of middle European ancestry who possess multiple genes in the X-linked photopigment gene array is investigated, suggesting that the first two genes possessed by multigene-dichromats encode pigments of identical or nearly identical spectral sensitivity.

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It is reported that a common single amino-acid polymorphism at residue 180 of the X-linked red visual pigment explains the finding of two major groups in the distribution of colour matching among males with normal colour vision.

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The relationship between the molecular structure of the X-linked red and green visual pigment genes and color-vision phenotype as ascertained by anomaloscopy was studied in 64 color-defective males and it was found that four subjects who were found to have 5' green-red hybrid genes in addition to normal red- and green-pigment genes had normal color vision as determined by anomalyoscopy.

Visual pigment gene structure and expression in human retinae.

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The isolation and sequencing of genomic and complementary DNA clones that encode the apoproteins of these three pigments are described and the deduced amino acid sequences show 41 +/- 1 percent identity with rhodopsin.

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The results indicate the regions of the X-encoded photopigment apoproteins that are responsible for differences in their spectral tuning, and imply that the striking variations in colour vision among anomalous trichromats of a particular type are not attributable to anomalous pigments with differing spectral peaks.

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It is suggested that failure of manifestation occurs when the mutant gene is located at a distal (3′) position among several green opsin genes, which might also predispose to certain X–linked retinal dystrophies.

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The results indicate that the severity of the defect in deuteranomalous color vision depends on the degree of similarity among the residual photopigments that serve vision in the color- anomalous eye.

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A variety of modified human red and green pigment gene arrays are generated that direct the expression of distinguishable histochemical reporters from each gene promoter, and this work suggests a facile mechanism for the evolution of trichromacy after visual pigment gene duplication.