Genetic basis of photopigment variations in human dichromats

Vision Res. 1995 Aug;35(15):2095-103. doi: 10.1016/0042-6989(94)00306-8.

Abstract

The spectral sensitivities of the X-encoded pigments in dichromats were studied using the electroretinogram. The action spectra measured for these subjects correspond to four distinctly different X-encoded visual pigments, two different middle-wave pigments spectrally separated by 7 nm and two different long-wave pigments separated by 5 nm. Amino acid sequences were deduced from examination of the genes encoding the pigments. Pairwise comparisons of the opsin structures and pigment spectra confirm and clarify earlier conclusions. Substitutions in exon 5 of the genes produce the spectral difference that separates human X-encoded pigments into middle- and long-wave classes. Polymorphisms in exons 2-4 produce subtypes of pigments that fall within those major classes. Substitution of half of a middle-wave gene with long-wave sequence (exons 1-3) does not shift the middle-wave spectrum. Combined substitutions at positions 230, 233 and 180 produce a 7 nm shift in the in the middle-wave pigment spectrum. Two subtypes of long-wave pigments that differ in the presence of serine or alanine at position 180 and occur in dichromats, deuteranomalous trichromats, and color normals are spectrally separated by 5-7 nm.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Color Vision Defects / genetics*
  • DNA / chemistry
  • Electroretinography
  • Exons
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Retinal Pigments / chemistry
  • Retinal Pigments / genetics*
  • Spectrophotometry
  • X Chromosome

Substances

  • Retinal Pigments
  • DNA