In normal trichromats, the long- (L) and middle-wavelength-sensitive
(M) pigment genes are arranged in a head-to-tandem array on the X
chromosome. Two amino acids at positions 277 and 285, encoded by exon 5 of
the L and M genes, respectively, are essential for the spectral difference
between L and M pigments whose spectral peaks are at approximately 560 and
530 nm. Intragenic or intergenic unequal crossing-over commonly occurs
between the highly homologous L and M genes, resulting in red-green color
vision deficiencies. The dichromacy is usually associated with a single L
gene for deuteranopia or a single 5′ L-M 3′ hybrid gene with
M-gene exon 5 for protanopia. We clinically diagnosed a total of 88 male
dichromats using a Nagel model I anomaloscope, which included one
unclassified subject in addition to 31 protanopes and 56 deuteranopes. The
objective of this study was to characterize the phenotype of the subject
and to determine the genotype of his X-linked pigment genes. The subject
accepted not only any red-green mixture but also an extended yellow-scale
range at each matching point (i.e. 20 to 32 scale units at the green
primary and 3.5 to 6 scale units at the red primary). The slopes of
regression lines were in the range of −0.34 to −0.23, while
the mean slopes for the protanopes and deuteranopes were −0.38 and
−0.01, respectively. Spectral sensitivity tests showed that the
subject's curve was shifted between the protanope and deuteranope
curves. Molecular analysis revealed a novel form of a single pigment gene
with a unique arrangement of exon 5 (Y277 from the L gene and A285 from
the M gene). The predicted λmax (541 to 546 nm) of the
unique pigment was closer to the M than to the L pigment. Our outcome
suggests that intragenic unequal crossing-over may have occurred between
amino acid positions 279 and 283.