STRUCTURE AND FUNCTION OF COLOR VISION PIGMENTS

人类的色觉是三原色的，我们使用三种颜料(蓝色、绿色 和红色)来区分不同的颜色。遗传的红/绿颜色 视力缺陷是X连锁的，并且发生的频率相当高 (约8%)在男性人口中。这些遗传缺陷是 认为是由高度同源的重组引起的 位于X染色体上的同源红色和绿色基因 染色体。尽管这得到了许多遗传证据的支持，但 到目前为止，分离的色素还不能用来测试这种模型 直接去吧。 这项提案中概述的研究的总体目标是澄清 人类的结构、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。实验方法将是使用 定点突变与哺乳动物细胞培养相结合 生产人类色素。野生型和改良型颜料将是 纯化至均一，并在体外进行表征。 有两个具体的目标。首先是检验人类 红/绿颜色视觉缺陷由不同的同源引起 重组事件。二是刻画孤立的人类色彩 视觉色素的一般光谱和生化特性 属性。

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.