Pigment gene expression in protan color vision defects.
We screened 150 male eye donors and identified four who did not have or express L pigment genes, consistent with each of them having a congenital protan color vision defect. One donor was identified as a protanope because he had and expressed a single X-chromosome photopigment gene that encoded an M pigment. Three were categorized as protanomalous because each expressed significant levels of genes specifying two spectrally different M pigments. The first gene in each of the protanomalous arrays was expressed the most and encoded an M pigment that differed in amino acid sequence from M pigments in color normal men.
Balding
S D
SD
Department of Cell Biology and Anatomy, Medical College of Wisconsin, Milwaukee 53226, USA.
Sjoberg
S A
SA
Neitz
J
J
Neitz
M
M
D001483:Base Sequence; D003117:Color Vision Defects / Q000235:genetics*; D018076:DNA, Complementary / Q000032:analysis; D005091:Exons; D005784:Gene Amplification; D015870:Gene Expression; D006801:Humans; D008297:Male; D012168:Retinal Pigments / Q000235:genetics*; D014960:X Chromosome
D018076:DNA, Complementary; D012168:Retinal Pigments