Genetics of Color vision

The Nature of color

“White” light is a mixture of colors. When it hits
an object, some wavelengths (colors) are absorbed,
with the object’s “color” being the reflected part
not absorbed
 Typical and Atypical human
color vision
• A typical person has trichromatic color vision,
being able to distinguish red/green/blue
color shades.
• One in 5 million persons has only
monochromatic vision seeing only shades of
gray.
• 8% of males and 0.5% of females have
dichromatic vision
– Normally these individuals are red/green color
blind.
 Structure of the eye

Key features are the Rods and Cones

 Rods

• Roughly one billion rods/retina

• Contain the pigment Rhodopsin
– Rhodopsin bleaches from pink to white when
exposed to light
– This bleaching converts the light image into
shades of gray
• Rods responsible for night vision as are very
sensitive to low levels of light
 Cones
• Roughly seven million cones/retina
• Typical human eye has three types of
cones,
– Each type contains a single opsin pigment
for either Red, Green, Blue.
– Each opsin absorbs light at slightly
different wavelengths
Wavelenght
 Genetics of Opsin pigments
• Gene for Blue opsin is autosomal
• Genes for Red and Green opsins are
tightly linked on the X chromosome
– Variation in copy number on the X
– There is a single copy of the red-sensitive
opsin gene and one or more copies of the
green-sensitive opsin
Three potential X chromosomes showing the
Variation in copy for red and green.

The Red and Green genes are very similar in DNA

sequence (96% identical), allowing for recombination
between them. This can create individuals missing
the green opsin
Such unequal crossing over generates variation in
copy number, and does so somewhat frequently
Crossingover can also create hybrid green/red genes
that can be either red or green deficient

This happens because only a few key amino acids result

in the change in absorption in green vs. red genes.
 Evolution of color vision
• Red-Green opsins 96% similar, but both only 43%
similar to Blue opsins
• Blue and Red/Green opsins diverged about 500
million years ago
• Separate Red and Green opsin genes in human
those arose less than 40 million years ago, via gene
duplication.
• Old-world monkeys are trichromatic but New-world
monkeys (South America) are dichromatic (have only
blue and one Red/Green opsin). Old-world/new-
world monkeys had last common ancestor at
approximately 40 MYA.
 Trichromatic female squirrel
monkeys
• Squirrel monkeys (new world) have
dichromatic males
• But most females are trichromatic. Why?
• The single Red/Green gene in squirrel
monkeys has multiple alleles, some of which
are red-sensitive, others which are green-
sensitive
 Seeing beyond the (human)
visible spectrum
• Some organisms have opsin genes that can
see:
– In the far-red (infrared), so can see heat (e.g.,
rattlesnakes)
– In the far-blue (ultraviolet), e.g., insects
– All due to animo acid changes in opsin genes.
We actually know what the critical residues are, so
(in theory) we could recreate these in human
opsins
UV patterns often
help guide bees
to the nectar
source in flowers