title: Pigment gene expression in protan color vision defects.
abstract: 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.
authors.affiliation: Department of Cell Biology and Anatomy, Medical College of Wisconsin, Milwaukee 53226, USA.
authors.forename: S D
authors.initials: SD
authors.lastname: Balding
authors.forename: S A
authors.initials: SA
authors.lastname: Sjoberg
authors.forename: J
authors.initials: J
authors.lastname: Neitz
authors.forename: M
authors.initials: M
authors.lastname: Neitz
mesh_terms: 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
chemical_list: D018076:DNA, Complementary; D012168:Retinal Pigments