Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency
Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency
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DOI：
10.1016/j.visres.2004.04.011
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发表时间：
2004-01-01
期刊：
影响因子：
1.8
通讯作者：
Yamade, S
中科院分区：
文献类型：
--
作者：
Ueyama, H;Kuwayama, S;Yamade, S
对 125 名患有 Protan 色觉缺陷的日本男性的 L 视锥细胞/M 视锥细胞视觉色素基因阵列进行了分析。阵列在 62/65 的红色盲受试者和 57/60 的红色弱受试者中成功测定。在 62 名红色盲受试者中，48 名（77%）拥有由单个 5'L-M 杂合基因（PS 阵列）或 5'L-M 杂合基因组成的阵列，后跟与杂合基因结构相同的 M 基因（PD 阵列）。在其余 14 名受试者中，11 名受试者的阵列由 5'L-M 杂合基因组成，后跟一个在结构上与杂合基因不同的 M 基因（PD 阵列），3 名受试者的阵列明显正常，由单个 L 基因后跟一个 M 基因组成（PN 阵列）。在拥有 PD 阵列的 11 名受试者中，受试者 A67 在下游基因的外显子 3 中存在 11 bp 缺失，6 名受试者在阵列的第二个基因中存在 A-71C 替换。在具有 PN 阵列的 3 名受试者中，受试者 A289 在 L 基因的外显子 4 中存在错义突变 (Pro231Leu)。当通过视觉色素的体外重建来研究错义突变的功能时，发现它对视锥细胞视蛋白和视紫红质都有害。在 57 名蛋白质瘤受试者中，49 名 (86%) 拥有 PD 阵列，但 25 名受试者的第一基因和下游基因之间仅在外显子 2 上存在差异，这表明 M 色素中外显子 2 编码的差异对颜色辨别有贡献。在其余 8 名受试者中，2 名具有 PS 阵列，2 名具有 PI 阵列，另外 4 名（包括 L 基因中具有错义突变（Glu338Gly）的受试者 A89）具有 PN 阵列。讨论了 protan 色觉缺陷的基因型-表型关系。 (C) 2004 Elsevier Ltd. 保留所有权利。
The L-cone/M-cone visual pigment gene arrays were analyzed in 125 Japanese males with protan color-vision deficiency. Arrays were successfully determined in 62/65 subjects with protanopia and 57/60 protanomaly subjects. Among the 62 protanopia subjects, 48 (77%) had an array consisting of a single 5' L-M hybrid gene (PS-array) or a 5' L-M hybrid gene followed by an M gene(s) that was structurally identical to the hybrid gene (PD-array). In the remaining 14 subjects, 11 had an array consisting of a 5' L-M hybrid gene followed by an M gene(s) that was structurally different from the hybrid gene (PD-array) and 3 subjects had an apparently normal array consisting of a single L gene followed by an M gene(s) (PN-array). In the 11 subjects with the PD-array, subject A67 had an 11 bp-deletion in exon 3 of the downstream genes and 6 had an A-71C substitution in the second gene of the array. In the 3 subjects with the PN-array, subject A289 had a missense mutation (Pro231Leu) in exon 4 of the L gene. When the function of the missense mutation was studied by in vitro reconstitution of visual pigments, it was found to be deleterious to both cone opsin and rhodopsin. Among the 57 protanomaly subjects, 49 (86%) had the PD-array, but 25 subjects had a difference only in exon 2 between the first and downstream genes that suggested a contribution of exon 2-encoded difference in the M pigment to color-discrimination. In the remaining 8 subjects, 2 had the PS-array, 2 had the PI-array and the other 4, including subject A89 with a missense mutation (Glu338Gly) in the L gene, had the PN-array. Genotype-phenotype relationships in protan color-vision deficiency are discussed. (C) 2004 Elsevier Ltd. All rights reserved.