Analysis of fusion gene and encoded photopigment of colour-blind humans

Abstract

IN humans, long-wavelength-sensitive and middle-wavelength-sensitive cone pigments are encoded by genes lying in a head-to-tail tandem array on the X chromosome. Deficiencies in red–green colour vision seem to arise from unequal recombination of these normal X-linked genes^1,2. In some dichromats this recombination is believed to yield a fusion gene encoding a product with an absorption spectrum similar to that of one or the other of the normal photopigments². Until now, however, such a relationship between the structure of a pigment gene and the spectral properties of its encoded pigment has not been directly shown. We have now sequenced a fusion gene isolated from a red-green colour-blind human and determined the spectral properties of the pigment that it encodes. The absorption spectrum of the photopigment was very similar to that of normal middle-wavelength-sensitive photopigment, even though about half of its DNA coding sequence seems to be derived from a gene encoding normal long-wavelength-sensitive pigment. These results indicate the regions of the X-encoded photopigment apoproteins that are responsible for differences in their spectral tuning, and imply that the striking variations in colour vision among anomalous trichromats of a particular type are not attributable to anomalous pigments with differing spectral peaks.