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

Nature. 1989 Dec 7;342(6250):679-82. doi: 10.1038/342679a0.

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. 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 photopigments. 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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Color Vision Defects / genetics*
  • DNA / genetics
  • Electroretinography
  • Exons
  • Humans
  • Male
  • Molecular Sequence Data
  • Nucleic Acid Hybridization
  • Photoreceptor Cells / metabolism
  • Polymorphism, Restriction Fragment Length
  • Recombination, Genetic / genetics*
  • Restriction Mapping
  • Retinal Pigments / genetics*
  • Spectrophotometry
  • X Chromosome*

Substances

  • Retinal Pigments
  • DNA