STRUCTURE AND FUNCTION OF HUMAN COLOR VISION PIGMENTS

人类的色觉是三色的，我们使用三种色素（蓝色、绿色 和红色）来区分不同的颜色。继承红/绿色颜色 视力缺陷是X连锁的，发生频率相当高， （约8%）在男性中。 这些遗传缺陷是 被认为是由高度同源重组之间产生的。 同源的红色和绿色基因都位于X染色体上 染色体 虽然这一点得到了许多遗传学证据的支持， 迄今为止，还没有分离的颜料可用于测试该模型 直接. 本提案中概述的研究的主要目的是阐明 人体的结构、光谱特性和作用机制 色觉色素，并测试遗传人类的分子模型， 色觉缺陷 实验方法将使用 定点诱变与哺乳动物细胞培养相结合， 产生人体色素。 野生型和修饰的色素将被 纯化至均质并在体外表征。 有两个具体目标。 首先是检验人类 红/绿色色觉缺陷是由不平等的同源 重组事件 二是刻画孤立的人性色彩 视觉色素的一般光谱和生物化学 特性.

Human color vision is trichromatic, we use three pigments (blue, green and red) to discriminate different colors. Inherited red/green color vision deficiencies are X-linked and occur with a rather high frequency (about 8%) in the male population. These inherited deficiencies are thought to arise by homologous recombination between the highly homologous red and green genes which are both located on the X chromosome. Although this is supported by much genetic evidence, the isolated pigments were not heretofore available to test this model directly. The broad aim of the research outlined in this proposal is to elucidate the structure, spectral properties, and mechanism of action of the human color vision pigments, and to test molecular models for inherited human color vision deficiencies. The experimental approach will be to use site-directed mutagenesis in combination with mammalian cell culture to produce the human pigments. The wild-type and modified pigments will be purified to homogeneity and characterized in vitro. There are two specific goals. First is to test the hypothesis that human red/green color vision deficiencies arise by unequal homologous recombination events. Second is to characterize the isolated human color vision pigments in terms of their general spectral and biochemical properties.