title: Topographical cone photopigment gene expression in deutan-type red-green color vision defects.
abstract: Eye donors were identified who had X-chromosome photopigment gene arrays like those of living deuteranomalous men; the arrays contained two genes encoding long-wavelength sensitive (L) pigments as well as genes to encode middle-wavelength sensitive (M) photopigment. Ultrasensitive methods failed to detect the presence of M photopigment mRNA in the retinas of these deutan donors. This provides direct evidence that deuteranomaly is caused by the complete absence of M pigment mRNA. Additionally, for those eyes with mRNA corresponding to two different L-type photopigments, the ratio of mRNA from the first vs. downstream L genes was analyzed across the retinal topography. Results show that the pattern of first relative to downstream L gene expression in the deuteranomalous retina is similar to the pattern of L vs. M gene expression found in normal retinas.
authors.affiliation: Department of Cellular Biology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.
authors.forename: Kathryn
authors.initials: K
authors.lastname: Bollinger
authors.forename: Stacy A
authors.initials: SA
authors.lastname: Sjoberg
authors.forename: Maureen
authors.initials: M
authors.lastname: Neitz
authors.forename: Jay
authors.initials: J
authors.lastname: Neitz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D003118:Color Perception / Q000502:physiology*; D003119:Color Perception Tests; D003117:Color Vision Defects / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods; D012333:RNA, Messenger / Q000032:analysis; D017949:Retinal Cone Photoreceptor Cells / Q000378:metabolism*; D012168:Retinal Pigments / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D012168:Retinal Pigments