ANALYSIS OF COLORBLIND MUTANTS

色盲突变体分析

• 批准号: 6315517
• 负责人: PAMELA M KAINZ
• 金额: $ 3.75万
• 依托单位: HARVARD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-10-01 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6315517
• 关键词: color blindness; developmental neurobiology; gene mutation; immunocytochemistry; in situ hybridization; mutant; retina; visual photoreceptor; zebrafish

DESCRIPTION The goal of the proposed study is to identify and understand the function of genes involved in color vision. Zebrafish will be the animal model, and the approach will be to identify and characterize "color-blind" animals using the optokinetic response. The first mutant identified by this method, pob, lacks red cones by 5 days post-fertilization. At 3 days, however, photoreceptors expressing red opsin are present, suggesting that red- sensitive cones form initially but later disappear. Many interesting issues about the mutation cannot be addressed that red-sensitive cones form initially but later disappear. Many interesting issues about the mutation cannot be addressed because the mutant dies by day 9. Microdissection techniques are being utilized to transplant the embryonic eye anlage of the mutant into a wild-type embryo in order to obtain a non-lethal mutation model system. The cone mosaic in juvenile and adult fish will be characterized to determine whether the pob mutation causes: the normal cone photoreceptor pattern within the mosaic to be disrupted, other photoreceptors to degenerate, and, photoreceptor cell regeneration in response to the photoreceptor death. Additional color-blind mutants will be screened for, isolated and characterized histologically and electrophysiologically. These studies will further our understanding of the molecular mechanisms underlying color vision within the vertebrate retina and establish candidates for the search of gene products involve din human retinal degeneration.

该研究的目的是识别和理解与色觉有关的基因的功能。斑马鱼将成为动物模型，方法将是利用光动力学反应来识别和表征“色盲”动物。用这种方法鉴定的第一个突变体pob在受精后5天缺乏红色球果。然而，在第3天，表达红视蛋白的光感受器出现，表明红敏感锥细胞最初形成，但随后消失。许多关于突变的有趣问题无法解决，即红色敏感锥体最初形成但后来消失。关于突变的许多有趣的问题无法解决，因为突变体在第9天死亡。为了获得非致死性突变模型系统，利用显微解剖技术将突变体的胚胎眼移植到野生型胚胎中。将对幼鱼和成年鱼的视锥马赛克进行表征，以确定pob突变是否导致：马赛克内正常的视锥光感受器模式被破坏，其他光感受器退化，以及光感受器细胞因光感受器死亡而再生。其他色盲突变体将进行筛选、分离和组织学和电生理学表征。这些研究将进一步加深我们对脊椎动物视网膜色觉的分子机制的理解，并为寻找与人类视网膜变性有关的基因产物建立候选基因。