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GEK1532 Genetics of Color Vision Defects

Thorsten Wohland Dep. Of Chemistry S8-03-06 Tel.: 6516 1248 E-mail:

Pictures of DNA etc. are adapted from Biochemistry, Voet & Voet, John Wiley Color Vision, Perspectives from different disciplines, Eds. W. Backhaus, R. Kliegel, S. Werner, QP483 Col (SL): Chapter 5

Soma: the cell body; its task is the production of neurotransmitters and the summation of the signal. As well some input. Dendrites: The dendrites are the points of input of the neuron. Axon: The axon is responsible for the output of the neuron. Synapse: Connection between two neurons from an axon (presynaptic) to a dendrite or cell body (postsybaptic). Network of neurons: Neurons can have many inputs on the dendrites or cell body from other neurons. And through the axon they can communicate to many other neurons. MOM/TG/momtg-introbg.html

Summation of signals

The upper synapse is excitatory, the lower synapse inhibitory. Their signal strength is indicated by the black arrows.

The Axon: Voltage gated cation channels

Resting potential of the membrane is -70 mV. Na+ ions are more abundant outside the cell, and K+ ions are more abundant inside the cell. A difference in concentartion between the two creates the resting potential 1. At a synapse channels open and depolarize the membrane due to a neurotransmitter. 2. Because of the depolarization, voltage-gated cation channels open and let Na+ ions into the cell, further depolarizing the cell. 3. This opens more voltage-gated cation channels and the impulse can travel along the membrane. 4. After a short opening the voltagegated cation channels close automatically and stay inactive for a few milliseconds.

The overall picture of an synaptic event

Remember the rhodposin activation?

Control of Cation channel. Since rhodopsin activation leads to the synthesis of GMP from cGMP, the cGMP concentration decreases. When the cGMP concentration decreases cation channels close. The membrane will be hyperpolarized.

Signal from light sensitive cells

Cone opsin differences

Red-Pigment Blue-Pigment

From Scientific American, Special on Color (German Version)

Differences to Green-Pigment are indicated in dark shading.

Deoxyribonucleic acid (DNA)

DNA is the code which gives a cell the information how to construct proteins Proteins are made of 20 different amino acids Thus DNA has in some way to encode for these 20 different possibilities Lets start with a look at what DNA actually is!

Deoxyribonucleic acid (DNA)



Double stranded DNA, WatsonCrick base pairs

Deoxyribonucleic acid (DNA)

But how does the DNA code for the 20 amino acids that are found in proteins?
It is a 4 letter code: A, C, G and T Thus the code must be at least 3 bases long: 1. A, C, G, T 4 4 x x 2. A, C, G, T 4 4 = 16 x 4 = 64 3. A, C, G, T

How could we get out of three bases 20 amino acids?

Some of the 20 amino acids are encoded by more than just one codon.

This solves as well the problem of a 21st code that signals a stop in the DNA code.


Genetic inheritance
Humans have 23 pairs of chromosomes: 1 pair of sex chromosomes 22 pairs of autosomes (non-sex chromosomes) Cell cycle:

To get an idea how DNA is actually wrapped up into chromosome, see:

Offspring get for all chromosome pairs 1 chromosome form the father and one from the mother However, female offspring have 2 x chromosomes, male have one x and one y chromosome Thus male offspring always inherit only one x chromosome, that from the mother

Am1,Am2 Af1,Af2





Dominant inheritance: If a gene on one autosome is defect, the anomaly will be present. Recessive inheritance: Only if the particular gene on both autosomes is defective will the anomaly manifested itself.

Xm1,Xm2 Xf,Yf





Recessive inheritance: For males, since they have only one X chromosome, it is sufficient that a gene on that chromosome is defective. Then the anomaly will be present.

Color deficencies
The genes for the middle and long wavelength opsin are located on the X chromosome
Xm1,Xm2 Xf,Yf

Protanopia, Deuteranopia: Only if both X chromosomes are defective then will the female be color deficient. If one X chromosome is normal it can rescue the female.

Protanopia, Deuteranopia: If the X chromosomes is defective then the male will be color deficient.

Tritanopia: The gene for the short wavelength opsin is located on autosome 7 Dominant Inheritance (incomplete): defect of one chromosome is enough to confer tritanopia.

XpXn XnY














Backhaus Fig. 5.3

The genes for the middle and long wavelength opsin are located on the X chromosome The gene for the short wavelength opsin is located on autosome 7

L and M opsins
Intron DNA DNA containing only the exons, the code for the actual protein Exon

Since Exon 1 and 6 are the same for M and L opsins, we regard only exons 2 to 5

On the X chromosome we need at least 1 L and one M opsin for normal color vision Most commonly there are 3 opsins It is more usual to have multiple M opsins L M M

Amino acid changes leading to spectral shifts

Backhaus Fig. 5.3 Exon 5: Y277F and T285A -> 16-24 nm shift in peak sensitivity Exon 3: S180A -> 4-7 nm shift

Amino acid changes leading to spectral shifts

Backhaus Fig. 5.4 M pigment peaks around 530 nm L pigment peaks around 550 nm

Amino acid changes leading to spectral shifts

Backhaus Fig. 5.5 M pigment peaks around 530 nm L pigment peaks around 550 nm Mutations in L opsin are usually more pronounced than in M opsin.

Backhaus Fig. 5.6 and 5.7

Crossover of X chromosomes can produce color deficiency gene arrays

Backhaus Fig. 5.8 Deutan and color normal men Protan men and femal carriers normal Deuteranopia

Exon 5: Y277F and T285A -> determines whether opsin is L or M Exon 3: S180A -> is more common in L Occurrence of LS180 and LA180 is almost equal (50% each) For MA180 93%, MS180 7%

Men have 50% chance to have either LS180 or LA180

Women have 25% chance to have LS180 LS180 LA180 LA180 LS180 LA180 LA180 LS180 Backhaus Fig. 5.9 50% chance to have mixed L opsins

An example of a womans retina with mixed L pigments

Backhaus Fig. 5.10

DNA Inheritance of color deficiency Spectral Tuning of L and M opsins