Journal
JOURNAL OF BIOCHEMISTRY
Volume 158, Issue 3, Pages 197-204Publisher
OXFORD UNIV PRESS
DOI: 10.1093/jb/mvv034
Keywords
deutan; gene; opsin; promoter; thyroid hormone
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Funding
- Japan Society for the Promotion of Science [22591940, 25462711, 25462712]
- Grants-in-Aid for Scientific Research [22591940, 25462711, 25462712] Funding Source: KAKEN
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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 (T-3) in human retinoblastoma WERI cells, we examined the effects of T-3 on promoter activity; T-3 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 T-3 than the -71A promoter in HEK293 cells expressing thyroid hormone receptor isoform beta 2. Such a weak response of the -71C promoter to T-3 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).
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