title: A new subset of deutan colour vision defect associated with an L/M visual pigment gene array of normal order and -71C substitution in the Japanese population.
abstract: In 524 Japanese individuals with deutan colour vision defect, 76 had a normal-order pigment gene array, where the L gene is at the first position and the M gene(s) is located downstream. Of these 76 individuals, 69 had a -71A>C substitution in the M gene without any other mutation. Because the expression of L/M genes is up-regulated by thyroid hormone (T3) in human retinoblastoma WERI cells, we examined the effects of T3 on promoter activity; T3 increased the activity of the -71A promoter 2-fold, but it had no effect on the -71C promoter. Similarly, the -71C promoter was much less activated by T3 than the -71A promoter in HEK293 cells expressing thyroid hormone receptor isoform β2. Such a weak response of the -71C promoter to T3 may cause a decrease in the number of M cones and/or the density of M pigment during the differentiation of M cones. The average Rayleigh match midpoint was 18.9 ± 4.1 in 162 ordinary deuteranomaly individuals, but was 37.3 ± 9.1 in 63 deuteranomaly individuals with -71C. The -71A>C substitution was found to be specific to eastern Asia. These results suggest that there may be a new subset of deuteranomaly associated with -71C in the Japanese (and probably eastern Asian) population(s).
authors.affiliation: Department of Biochemistry and Molecular Biology and datt@belle.shiga-med.ad.jp.
authors.forename: Hisao
authors.initials: H
authors.lastname: Ueyama
authors.affiliation: Department of Ophthalmology, Shiga University of Medical Science, Seta, Otsu 520-2192, Japan; and.
authors.forename: Sanae
authors.initials: S
authors.lastname: Muraki
authors.affiliation: Institute of Vision Research, Atsuta-ku, Nagoya 456-8502, Japan.
authors.forename: Shoko
authors.initials: S
authors.lastname: Tanabe
authors.affiliation: Department of Ophthalmology, Shiga University of Medical Science, Seta, Otsu 520-2192, Japan; and.
authors.forename: Shinichi
authors.initials: S
authors.lastname: Yamade
authors.affiliation: Department of Biochemistry and Molecular Biology and.
authors.forename: Hisakazu
authors.initials: H
authors.lastname: Ogita
mesh_terms: D003117:Color Vision Defects / Q000235:genetics* / Q000473:pathology; D055358:Cone Opsins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D057809:HEK293 Cells; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D011401:Promoter Regions, Genetic; D017949:Retinal Cone Photoreceptor Cells / Q000378:metabolism / Q000473:pathology; D012168:Retinal Pigments / Q000235:genetics* / Q000378:metabolism; D037042:Thyroid Hormone Receptors beta / Q000235:genetics / Q000378:metabolism; D014284:Triiodothyronine / Q000235:genetics / Q000378:metabolism
chemical_list: D055358:Cone Opsins; D012168:Retinal Pigments; D037042:Thyroid Hormone Receptors beta; D014284:Triiodothyronine
keywords: deutan; gene; opsin; promoter; thyroid hormone