Download Molecular Genetics of Color Vision and Color Vision Defects

From: Molecular Genetics of Color Vision and Color Vision Defects
Arch Ophthalmol. 2000;118(5):691-700. doi:10.1001/archopht.118.5.691
Figure Legend:
Photopigments underlying normal and defective red-green color vision are illustrated. Normal trichromats have at least 1 each of the
short-, middle-, and long-wavelength sensitive classes of pigments, identified as S, M, and L. Red-green color-deficient individuals
are missing either all members of the L class or all members of the M class of pigment. The degree of color vision deficiency in
persons with anomalous trichromacy depends on the magnitude of the spectral difference between the pigment subtypes.
Dichromats have only 1 pigment in the L or M region
of the
spectrum.
A, Normal
Copyright
© 2000
American
Medicaltrichromacy. The normal S, M, and L pigment
Date
of download:
5/11/2017
spectra
are shown.
B, Anomalous trichromacy (deuteranomaly).
Deuteranomalous
trichromats have 2 slightly different L pigments.
Association. All rights reserved.
C, Anomalous trichromacy (protanomaly). Protanomalous trichromats have 2 slightly different M pigments. D, Dichromacy
From: Molecular Genetics of Color Vision and Color Vision Defects
Arch Ophthalmol. 2000;118(5):691-700. doi:10.1001/archopht.118.5.691
Figure Legend:
Diagram of long-wavelength sensitive (L) or middle-wavelength sensitive (M) cone opsin. Amino acids are illustrated as "beads"
along the protein strand. The 19 dimorphic sites that occur between and among M and L pigments are indicated.
Date of download: 5/11/2017
Copyright © 2000 American Medical
Association. All rights reserved.
From: Molecular Genetics of Color Vision and Color Vision Defects
Arch Ophthalmol. 2000;118(5):691-700. doi:10.1001/archopht.118.5.691
Figure Legend:
Spectral tuning of long-wavelength sensitive (L) and middle-wavelength sensitive (M) pigments. A, Exons 2 to 5 of the genes and
the 7 spectral tuning sites they encode are shown (left). Codon numbers or amino acid positions for the spectral tuning sites are
given. Codons 277 and 285 encode amino acids that determine whether the specified pigment is L or M. Black and white boxes
indicate that amino acids specified at the spectrally active position are those that shift the spectra long and short, respectively.
Arrows representing exons 2 to 5 of genes for L-class
and©M-class
pigments
are similarly color coded. The wavelengths of maximal
Copyright
2000 American
Medical
Date
of download:
5/11/2017
sensitivity,
as measured
in the indicated studies, are
given.
Since
the
measurements
were made using different methods, the
Association. All rights reserved.
discrepancies in the absolute values for wavelengths of maximal sensitivity are not surprising. There is good agreement in the
From: Molecular Genetics of Color Vision and Color Vision Defects
Arch Ophthalmol. 2000;118(5):691-700. doi:10.1001/archopht.118.5.691
Figure Legend:
A test of the spectral proximity hypothesis in deuteranomaly. The long-wavelength sensitive (L) genes underlying deuteranomaly in
16 men are drawn as arrows indicating exons 2 to 5 of the genes. The color coding is the same as that given for Figure 3, A. Of the
16 men studied, 7 were severely, 4 were intermediately, and 5 were mildly affected. The number of men with each L gene
complement is indicated in parentheses. The predicted spectral separation between the L pigments for each gene complement was
calculated using the values given in Figure 3, A.Copyright
The D value
is aAmerican
measureMedical
of color vision behavior, and was obtained by measuring
© 2000
Date
of download:
5/11/2017
the colors
in the designs
of the Hardy, Rand, and Rittler
pseudoisochromatic
plates (American Optical Company, Southbridge,
Association. All rights reserved.
Mass) as specified by their coordinates in units of the Commission International de l'Eclairage u′v′ diagram. Some of the subjects
From: Molecular Genetics of Color Vision and Color Vision Defects
Arch Ophthalmol. 2000;118(5):691-700. doi:10.1001/archopht.118.5.691
Figure Legend:
Recombination mechanisms believed to underlie variation in the size of the X chromosome pigment gene arrays and to produce
arrays underlying red-green color blindness. Black arrows indicate long-wavelength sensitive (L) genes; white arrows, middlewavelength sensitive (M) genes. The top 2 arrays in A and B are hypothetical parental arrays underlying normal color vision, each
with a single L gene followed by 1 or more M genes. A, Intergenic recombination is proposed to produce arrays underlying
deuteranopia. B, Intragenic recombination produces
arrays
proposed
to underlie
Copyright
© 2000
American
Medicaldeuteranomaly and protan defects. The first gene
Date
download:
in theofprotan
array5/11/2017
specifies phenylalanine at position
277
and
alanine
at
position
Association. All rights reserved. 285 and thus encodes an M pigment. The second
gene in the normal or deuteranomalous array specifies tyrosine at position 277 and threonine at position 285 and thus encodes an L