Sickle Cell Anemia Mutation

1. What is sickle cell anemia?

Sickle Cell Anemia is a recessive genetic disease. This is caused from the misshaping of red blood cells in the
body which keeps oxygen from being delivered at proper rates across the body.
2. Why does it make sense that the frequency of sickle cell anemia should be very low?
The trait is recessive and through natural selection, the trait should eventually be removed from the gene pool.
3. What happens in the blood sample of an individual who carries the sickle cell allele when the blood is deprived
of oxygen?
The blood cells take on the appearance and behavior of a sickle cell when the blood is deprived of oxygen.
4. How is malaria transmitted?
Malaria is transmitted through mosquito bite.
5. Why does the sickle cell trait, which encodes for a deadly disease, persist in areas where malaria is found?
The sickle cell trait is linked with the spread of malaria.
6. What type of mutation in the gene that encodes hemoglobin leads to a sickle cell allele?
A mutation in the hemoglobin-Beta gene found on chromosome 11 leads to a sickle cell allele.
7. How does sickle cell protect people from malaria?
The sickle cells leak nutrients that the parasites need to survive. The faulty cells eventually get eliminated, which
soon destroys the parasite.

8. Consider the statement: “Sickle cell disease is a(n) _________ disease.” Which of the following terms could fill in the
blank to make the statement true? There may be more than one correct answer.

Genetic ____________ Infectious ____________ Potentially lethal ____________ Inherited___________

9. Consider the statement: “Malaria is a(n) _________ disease.” Which of the following terms could fill in the blank to
make the statement true? There may be more than one correct answer.

Genetic ____________ Infectious ____________ Potentially lethal ____________ Inherited ____________

10. Consider the statement: “An individual with two normal copies of the hemoglobin gene is said to be __________.”
Which of the following terms could fill in the blank to make the statement true? There may be more than one correct
answer.

Homozygous for the hemoglobin gene would make you Susceptible to malaria

Heterozygous for the hemoglobin gene An identical twin could be carriers for sickle cell disease.

11. At the beginning of the film, you were introduced to Davaun and Skyy Cooper, who both have sickle cell disease.
Which of the following must be true about their parents?

a. One parent has at least one copy of the sickle cell allele.
b. Both parents have at least one copy of the sickle cell allele.
c. Both parents have sickle cell disease.
d. One parent has sickle cell disease.

12. In three to five sentences, explain why sickle cell disease became so prevalent in certain East African populations.

Sickle cell disease is a natural protector against malaria. These populations have developed natural selection through
those without the sickle cell allele usually dying from malaria. This has lead to the spread of at least one sickle cell allele
through generations in order to protect against malaria. This has led to malaria becoming more prevelant in other areas
compared to some East African populations.
13. There are now several effective antimalarial drugs that can treat people who have malaria or prevent them from
getting the disease altogether. Predict what will happen to the frequency of the sickle cell allele as these drugs become
more widely used. Support your answer with at least one piece of evidence from the film.
The frequency of the sickle cell allele will decrease as the drugs become more widely used because it will no longer be
needed as a natural protection in the body against malaria. This is shown as areas that have high sickle cell disease
populations also have a high malaria rate. This means that when the malaria rate decreases, the sickle cell rate will also
decrease.

Anole Lizard’s in Caribbean

1. Describe how the anole lizards divide up their habitat – bracket an area near the tree and give name of the species (4
of them) for that area. Describe each as to legs and color and toe pad size (info found throughout video)
 Lives high up in the canopy. Called
the canopy lizard. Large green lizard
with big toe pads.

Lives on twigs and small branches. Called

a twig anole.

Lives on low parts of tree trunks and on

ground. Species name: Trunk-ground
anole.

Lives in grass and bushes.

Species name: Grass-bush
anole.

2. How did short legs versus long legs impact speed and how is this helpful based on where they live in tree?
Lizards with short legs show that they can run much faster on skinny twigs compared to those with long legs who have
an easier time running up thick tree branches or trunks.
3. How did short versus long legs matter in balancing on thin twig? How was this helpful based on where they lived in
tree?
The short legs allowed the lizard to easily stay on the thin twig. However, long legs proves to be a disadvantage on the
thin twig as the lizard can barely walk across without losing balance.
4. How did canopy lizard hold onto leave even though he was a larger lizard?
The canopy lizard had microscopic hairs on his toepads that allowed him to attach with the leave and stay on.
5. Two organisms are considered to belong to different species if they __________
have differences in appearance, such as different color or leg length.
b. live in different geographical areas, such as on different islands.
c. do not mate or produce fertile offspring.
d. eat entirely different types of foods.
6. Which statement best explains why islands can be used as natural laboratories? ________
a. The climate among islands varies from very wet to very dry.
b. Islands are smaller in size than the mainland as well as isolated from outside influences, so in that sense they
are like a laboratory.
c. The islands have similar habitats, but they differ from the mainland habitat.
d. There are many small islands, meaning researchers can repeat their observations and experiments on several
similar islands.
7. In the film, you saw Jonathan Losos place a male and female trunk-ground anole on an island that did not have any
trees but had short grass and shrubs. Losos and colleagues visited the island the following year. What had happened?
a. The two anoles died because there were no trees for them to live in.
b. The two anoles reproduced and their offspring adapted to living in bushes.
c. The legs of the two anoles got shorter and their offspring inherited shorter legs.
d. The two anoles reproduced and there were no significant differences in traits from one generation to the
next.

6. What occurred within just a few generations (within a year) on an island to the legs of the long leg lizard? How was
this helpful in environment?
The lizards legs had shortened significantly in just a few generations (microevolution.) This is helpful because their
environment had thin twigs and not large trees on the island.
7. Why is a change in dewlap color important to reproductive isolation?
The signals used in species recognition plays an important role in speciation. The diversity of color allows different
species to develop through diversification.
8. Microevolution and Macroevolution. Which was shown on these islands in the experiment? Explain.
Microevolution was shown on the island because the evolutions happened over a short period of time and occurred
quite rapidly.
9. In 2003, Jonathan Losos and his research team experimentally introduced curly-tailed lizards (Leiocephalus carinatus)
to islands populated by trunk-ground anoles that live primarily on the ground and have relatively long legs. The
scientists wanted to know how the presence of the curly-tailed lizards, which are anole predators, would affect the
habitat in which the anoles lived. In one experiment, Losos and colleagues measured the “perch height” (or how high off
the ground a lizard was perched) for 24 individual anoles. They then placed either a curly-tailed lizard (experimental
population) or an inanimate object of the same size (control population) in front of individual trunk-ground anoles and
measured the perch height 10 minutes later. They then calculated the average change in the anole’s perch height in the
experimental and control populations. The results of this experiment are summarized in Figure 1. Using the information
in Figure 1, describe the results of the experiment.

Figure 1. Mean change in perch height 10 minutes after introduction of either a large predatory lizard (experimental) or
an inanimate object of the same size (control).

Anoles show that they would quickly be able to recognize the predator lizard and change their vertical position quickly.
With the inanimate object, the anoles recognized their was no threat, and did not climb up as a result.
10. In another experiment, the scientists left the curly-tailed predatory lizards on the islands for several weeks. They
counted the number of anoles living on the ground at the beginning of the experiment in May and then again in July and
November. The figure below shows the percentage of anoles living on the ground on islands with curly-tailed lizards
(experimental population) and without curly-tailed lizards (control population).

Figure 2. Differences in proportions of anoles observed on the ground in experimental and control populations. Values
are mean and ±1 standard error of the mean for all 12 islands. Only four islands were surveyed in July. Using the
information in Figure 2, describe the results of the experiment.

Over time, the anoles that were in the experimental data showed that they climbed up trees to hide from the predator
and stay away from the ground. This shows the predator lizard is likely not able to climb up heights. The control data
showed that the anoles stayed on the ground for the most part.
 Got Lactase? The Co-evolution of Genes and Culture

In the film Got Lactase? The Co-evolution of Genes and Culture, you learned that researchers did not find any changes in
DNA sequence, or mutations, in the coding region of the lactase gene that were associated with lactose
tolerance/intolerance. This finding suggested that the genetic change responsible for whether someone is lactose
tolerant or intolerant is not in the coding region of the gene. Could the change be in the regulatory region of the gene?
Genes are regulated, or turned on or off, by genetic elements called switches. When the lactase switch turns the lactase
gene on, the lactase enzyme is produced. In babies, the lactase gene is turned on. But when babies grow into adults, the
switch turns the lactase gene off in most people. In a minority of adults, a mutation in the lactase switch prevents the
lactase gene from turning off. These adults are lactose tolerant.

Figure 4. The genetic switch that regulates the expression of the lactase gene is active in babies but not in most human
adults. Individuals who are lactose tolerant (or lactase persistent) have a mutation in the lactase switch that keeps the
switch turned on into adulthood.

1. What two monosaccharides are formed when lactase breaks up lactose?

Glucose and galactose are formed when lactase breaks up lactose.
2. Where is the mutation located? Be specific.
The mutation is located on the LCT on chromosome 2q21.
3. How did domesticating cows drive the mutation to spread as a favorable natural selection? Be very specific as to
possible reasons – Hint 3, explain each
Milk is great food and has many positive nutrients, is pathogen free, and is a great source of food in time of famine.
3. This mutation is in the switch before the gene. What would be the effect of a mutation in the coding region of
the lactase gene?
Everyone would likely be lactose tolerant.
5. Discuss the global distribution of the lactase gene and how ancestry influenced this pattern.
The lactase gene is mostly persistent in Northern Europe and Northern Africa. It is also persistent in America as the
majority of the population has ancestors from the previously mentioned areas.