The molecular basis of variation in human color vision

被引:94
作者
Deeb, SS
机构
[1] Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA
[2] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
关键词
cone photopigments; vision; visual pigment genes;
D O I
10.1111/j.1399-0004.2004.00343.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 polymorphism most likely resulted from gene conversion by the green-pigment gene. Another common source of variation is the existence of several types of red/green pigment chimeras with different spectral properties. The red and green-pigment genes are arranged in a head-to-tail tandem array on the X-chromosome with one red-pigment gene followed by one or more green-pigment genes. The high homology between these genes has predisposed the locus to relatively common unequal recombination events that give rise to red/green hybrid genes and to deletion of the green-pigment genes. Such events constitute the most common cause of red-green color vision defects. Only the first two pigment genes of the red/green array are expressed in the retina and therefore contribute to the color vision phenotype. The severity of red-green color vision defects is inversely proportional to the difference between the wavelengths of maximal absorption of the photopigments encoded by the first two genes of the array. Women who are heterozygous for red and green pigment genes that encode three spectrally distinct photopigments have the potential for enhanced color vision.
引用
收藏
页码:369 / 377
页数:9
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