Color Blindness Research Today is a free monthly online journal that collates and summarizes the latest research about Color Blindness, including details on causes, classification, red-green and blue-yellow color blindness, diagnosis.

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

Deeb SS

Departments of Medicine, Medical Genetics and Genome Sciences, University of Washington, Seattle, WA 98185, USA. sdeeb@u.washington.edu

Variation in human color vision is mainly caused by one common polymorphism (Ser180Ala) in the L pigment, and to the frequent presence of hybrid genes that encode pigments with various spectral properties. Both recombination and gene conversion between the highly homologous L and M pigment genes have generated wide variation in genotype and color vision phenotype. The S, M and L cones are distributed randomly in the central retina. Unlike S cones, M and L cones vary widely in number within the central retina. Determining the number of the three classes of cone and their special distribution in the living retina has significantly advanced the ability to correlate the cone mosaic in normal and color-defective subjects with the color vision phenotype. The transcription factors NR2E3, TRbeta2 and RXRgamma play crucial roles in establishment of the retinal cone mosaic during eye development.

Published 22 May 2006 in Curr Opin Genet Dev, 16(3): 301-7.
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