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100 Papers You Should Read: Molecular Genetics of Human Color Vision: The Genes Encoding Blue, Green, and Red Pigments

This is the fifth paper in the category, 100 Papers You Should Read (in vision science). This paper in the journal Science by Jeremy Nathans, Darcy Thomas and David Hogness in the genetics of human vision is a landmark paper in our understanding of how color vision works.

This paper defined our understanding of how rod and cone pigments are tuned by their interactions with amino acids surrounding the opsin.  The manuscript also confirms what many were positing about the genetic origins of both rod and cone pigments and demonstrates that red and green opsins are very close in homology with the blue opsin being further removed in homology.

Interestingly, a number of investigators including Henry et al., 1964, Cole et al., 1966 and Smith et al., 1973 were performing family based studies examining tritanopia, a very rare form of color vision disturbance with a complete lack of blue cone pigments and this study along with another by Nathans et al., also in 1986 confirmed the molecular genetics of these clinical studies.

Categories: 100 Papers You Should Read.

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