Neitz Jay, Neitz Maureen
University of Washington, Dept. of Ophthalmology, Seattle, WA 98195, United States.
Vision Res. 2011 Apr 13;51(7):633-51. doi: 10.1016/j.visres.2010.12.002. Epub 2010 Dec 15.
The contributions of genetics research to the science of normal and defective color vision over the previous few decades are reviewed emphasizing the developments in the 25years since the last anniversary issue of Vision Research. Understanding of the biology underlying color vision has been vaulted forward through the application of the tools of molecular genetics. For all their complexity, the biological processes responsible for color vision are more accessible than for many other neural systems. This is partly because of the wealth of genetic variations that affect color perception, both within and across species, and because components of the color vision system lend themselves to genetic manipulation. Mutations and rearrangements in the genes encoding the long, middle, and short wavelength sensitive cone pigments are responsible for color vision deficiencies and mutations have been identified that affect the number of cone types, the absorption spectra of the pigments, the functionality and viability of the cones, and the topography of the cone mosaic. The addition of an opsin gene, as occurred in the evolution of primate color vision, and has been done in experimental animals can produce expanded color vision capacities and this has provided insight into the underlying neural circuitry.
回顾了过去几十年遗传学研究对正常和缺陷色觉科学的贡献,重点强调自《视觉研究》上一期周年特刊以来25年的发展。通过应用分子遗传学工具,对色觉背后生物学的理解有了巨大进步。尽管负责色觉的生物学过程十分复杂,但相较于许多其他神经系统,它们更容易被研究。部分原因在于,物种内部和物种之间存在丰富的影响颜色感知的遗传变异,还因为色觉系统的组成部分适合进行基因操作。编码长、中、短波长敏感视锥色素的基因突变和重排会导致色觉缺陷,并且已经鉴定出影响视锥细胞类型数量、色素吸收光谱、视锥细胞功能和活力以及视锥镶嵌结构拓扑结构的突变。如在灵长类动物色觉进化过程中发生的那样,在实验动物中添加一个视蛋白基因可以产生扩展的色觉能力,这为潜在的神经回路提供了深入了解。