AP Biology

Unit 6

Distance
Learning
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 Name: ____________________________ Per: ___
Note Guide for Campbell BIF ​Chapter 13: The Molecular Basis for Inheritance
*This chapter has lots of enzyme names, and there can be quite a lot of details when it comes to DNA’s structure & function*
Overview & 13.1 - DNA is the genetic material
● Of all nature’s molecules, ​nucleic acids​ are unique. How so?

● What is a ​bacteriophage​?

● Briefly summarize ​Griffith’s experiment​, and what it helped identify:

● Briefly summarize the ​Hershey-Chase experiment​, and what it helped identify:

● What does ​Chargaff’s rule​ state?

● What did ​Rosalind Franklin​’s photograph, along with ​Watson​ &​ Crick​’s reasoning unveil?

● Understand what is meant when DNA is described as being a ​double helix​ and ​antiparallel​.

13.2 - Many proteins work together in DNA replication and repair

● Explain how DNA replication is semi-conservative:

● More than a dozen enzymes and other proteins participate in DNA replication. Most of the process is
fundamentally similar between prokaryotes and eukaryotes; however, there are some differences. In bacteria
(which have circular DNA), replication begins at a single ​origin of replication​. What happens in eukaryotes?

● Make sure you are familiar with these enzymes/terms, and what each enzyme does:

● We will go over DNA replication in class, but you will need to be familiar with the terms: leading strand, lagging
strand, Okazaki fragments, DNA ligase, nuclease, and telomeres.

13.3 - A chromosome consists of a DNA molecule packed together with proteins

● DNA is wrapped around proteins allowing it to ​supercoil​. What are the ​proteins​ and the ​protein + DNA​ called?

13.4 - Understanding DNA structure and replication makes genetic engineering possible
● What is a ​plasmid​?

● What are ​restriction enzymes​?

● What is ​PCR​? How is it useful in science? (we will get into more genetic engineering details like CRISPR in class)
 Name: ____________________________ Per: ___
Note Guide for Campbell BIF ​Chapter 14: Gene Expression: From Gene to Protein
*This chapter gets into the details of transcription & translation, and we will go over which parts are key & which we can gloss over*
Overview & 14.1 - Genes specify proteins via transcription and translation
● Gene expression​ refers to…

● What did the Beadle and Tatum experiment show?

● Transcription​ is…
● Translation​ is…
● When unwound, do both ​DNA strands​ serve as the template to make mRNA? Or just one?
● A ​codon​ refers to…
● Figure 14.6 shows the codon table. Is this unique based on each species? Or is it universal?

14.2 - Transcription is the DNA-directed synthesis of RNA: ​A Closer Look

● RNA polymerase​ is the enzyme that…
● What is a ​transcription factor​, and what does it do?
● Does transcription happen in both directions of the DNA template strand? Or just one direction?
14.3 - Eukaryotic cells modify RNA after transcription
● What happens during ​RNA processing​?

● What is the difference between ​introns​ and ​exons​?

14.4 - Translation is the RNA-directed synthesis of a polypeptide:​ A Closer Look

● What is the role of ​tRNA​ molecules? Use the term ​anticodon​ in your answer.

● Which ​organelle​ is involved in translation? What are these organelles made of?

● We will go through the steps of translation. You can gloss over the book’s details, but know that the 3 major
steps are ​initiation, elongation, ​and​ termination

14.5 - Mutations of one or a few nucleotides can affect protein structure and function
● What is the difference between a ​point mutation​, ​substitution​, ​insertion​, and ​deletion​?

● What is the difference between a ​silent mutation​, ​missense mutation​, and ​nonsense mutation​?

● What is a ​frameshift mutation​?

● What is a ​mutagen​?
 Name: ____________________________ Per: ___
Note Guide for Campbell BIF ​Chapter 15: Regulation of Gene Expression
*This chapter gets into the complexities of how gene expression is regulated! We’ll go through much of it together*
Overview & 15.1 - Bacteria often respond to environmental change by regulating transcription
● Read about the “cuatro ojos” fish :)
● Natural selection​ has favored bacteria that…
● Give an example:

● What does ​feedback inhibition​ mean?

● What is an ​operon​?

● What do ​regulatory genes ​do?

● There are 2 kinds of operons involved in ​negative gene regulation​. Describe them.
○

● What is ​positive gene regulation​?

15.2 - Eukaryotic genetic expression is regulated at many stages

● What does ​DNA methylation​ do?

● What is ​epigenetic​ ​inheritance​?

● Can you modify the DNA you are born with?

● Can you modify the DNA that gets expressed (or “turned on”)?
● Describe ​alternative RNA splicing​ (figure 15.12 is quite helpful):

15.3 - Noncoding RNAs play multiple roles in controlling gene expression

● What is ​RNAi​?

15.4 - Researchers can monitor expression of specific genes

● Study figure 15.16, and describe what the process is and what it can be used for:
 Name: ____________________________ Per: _____
Gene Expression Inquiry Packet
Ø Transcription
Why?
DNA is often referred to as a genetic blueprint. In the same way that blueprints contain the instructions for construction of a
building, the DNA found inside the nuclei of cells contains the instructions for assembling a living organism. The DNA blueprint
carries its instructions in the form of genes. In most cases, genes direct the production of a polypeptide, from which other
more complex proteins, such as enzymes or hormones, may be constructed. These and other molecules run the organism’s
metabolism and, in multicellular organisms, dictate what each cell’s job is. So, what is the language of these instructions and
how are they read and decoded by the cellular organelles? This activity will focus on the decoding of genes in eukaryotes.
Model 1 – Transcription

Coding strand

1. Consider the eukaryotic cell in Model 1.

a. Where in the cell is the DNA found?
b. Where in the cell does transcription take place?
c. What polymer is synthesized during transcription?
d. What monomers are used to construct this polymer and where are they found?

2. According to Model 1:
a. What enzyme is required for transcription? (recall how enzymes are named, and their endings)

b. What is the base-pair rule for a DNA strand matching an RNA strand?

3. Which strand of the DNA (the template or coding strand?) contains the “blueprint” for the pre-mRNA? (this
terminology can be confusing, so try to think of a trick to remember which strand is which…)

4. The DNA strand and pre-mRNA strand are anti-parallel.

With this in mind, label the 3ʹ and 5ʹ ends of the pre-mRNA strand in Model 1.
5. In which direction is the pre-mRNA molecule constructed?
Read This!
In eukaryotes the enzyme RNA polymerase joins with several transcription factor proteins at the promoter, which is a special
sequence of base pairs on the DNA template strand that signals the beginning of a gene. The transcription factor proteins,
along with the RNA polymerase, is called the transcription initiation complex. This moves along the DNA template strand at
about 40 base pairs per second producing pre-mRNA. When the RNA polymerase reaches the terminator sequence of base
pairs on the DNA template strand, it completes the production of pre-mRNA and releases it into the nucleoplasm.
6. What parts make up the transcription initiation complex?

7. Where on the DNA strand does the transcription initiation complex form?

8. Nearly all cells in an organism contain identical DNA, and each DNA strand may contain hundreds or thousands of
individual genes. Is it likely that a cell would transcribe all the genes within its nucleus simultaneously? Justify your
answer.

9. Considering the many types of cells in a multicellular organism, and their different functions, is it likely that all cells
transcribe all their genes at some point in their lifetime? Justify your answer.

Model 2 – mRNA Processing

10. Compare the pre-mRNA to the
mRNA (messenger RNA) leaving
the nucleus in Model 1.
a. What has been removed
from the pre-mRNA to
make it into mRNA?

b. What has been added to

the mRNA that was not
present in the pre-mRNA,
and where on the mRNA
strand are the additional
items located?

11. Identify the structure through

which the mRNA leaves the
nucleus.

12. The nucleotides on the mRNA will be “read” in the next step to producing a polypeptide. What sequence of bases (what
codon) indicates the starting point for the polypeptide “blueprint”?

Read This!
Introns are sections of pre-mRNA that are noncoding. That is, they don’t provide useful information for the production of the
polypeptide being synthesized. There is evidence that suggests these introns allow certain sections of DNA to code for
different polypeptides when different sections are removed. The removal of specific sections is triggered by a signal response
in the cell. The portions of the pre-mRNA that remain are called exons. The methyl cap (sometimes called the GTP cap or 5ʹ
cap) helps the mRNA molecule move through the nuclear pore and attach to a ribosome, its final destination. mRNA is a
short-lived molecule. Once in the cytoplasm the mRNA will be subject to exonucleases that immediately start removing
individual nucleotides from the 3ʹ end of a nucleic acid. The individual mRNA nucleotides will then be free to be used again
during the process of transcription.
 13. The human genome contains about 25,000 genes and yet produces about 100,000 different polypeptides. Propose
an explanation of how this is possible.

14. Using the information in the Read This! box, develop a hypothesis to explain the advantage of the poly-A tail added
to the 3ʹ end of the mRNA.

Ø Translation
Why?
The message in your DNA of who you are and how your body works is carried out by cells through gene expression. In most
cases this means synthesizing a specific protein to do a specific job. First, mRNA is transcribed from the DNA code. Then, the
mRNA sequence is translated into a polypeptide sequence.
Model 3 – Codons

15. If an mRNA molecule had 300 nucleotides in the coding region of the strand, how many amino acids would be in the
polypeptide that was synthesized? Show mathematical work to support your answer.

16. Consider the information in Model 3.

a. How many different codons (triplets) code for the amino acid Proline (Pro)?

b. Compare all of the codons for Proline. What are the similarities and differences?

c. Considering that mistakes can occur during transcription and DNA replication, what advantage is there for
an organism to have multiple mRNA sequences code for the same amino acid?

17. Using the mRNA codon chart in Model 3, complete the following:
 18. What amino acid is at the beginning of every polypeptide?

19. The codons shown in Model 3 are used in all species on Earth with very little variation. What might scientists conclude
from this?

Model 4 – Translation

20. List and define (in simple words) each of the terms used describe the 3 stages of translation.

21. According to Model 4, when the mRNA leaves the nucleus, to which cellular organelle does it attach?

22. The mRNA attaches to the organelle at the sequence AUG. What is the name of this codon?

23. Describe the movement (in terms of directionality) of the ribosome as translation occurs.

Read This!
The ribosome is a large complex of ribosomal RNA (rRNA) and proteins. It consists of two subunits. The smaller subunit binds
to the mRNA strand and the larger subunit holds the tRNA molecules in place while the covalent peptide bond is formed
between the amino acids. Several ribosomes can attach to an mRNA molecule simultaneously. This allows for many
polypeptide chains to be synthesized at once.

24. The tRNA molecules in a cell are short sequences of nucleotides (about 80 bases) that contain an anticodon and carry
a specific amino acid.
a. Find the tRNA in Model 4 that is carrying the Histidine (His). What sequence of nucleotides makes the
anticodon on this tRNA molecule?

b. What codon on mRNA would match this anticodon?

c. Verify that the codon you wrote in part b codes to Histidine by looking at the table in Model 3.
d. What anticodon would be found on a tRNA molecule carrying Glycine (Gly)? (Note: There are several correct
answers here.)

25. During elongation, how many tRNA molecules are held in the ribosome at the same time?

26. What will happen to the unattached tRNA once it has delivered its amino acid?

27. Describe two things that occur during termination as illustrated in Model 4.
 Name: ____________________________ Period: _____
DNA & RNA Video Notes​: Part I
1. What two things did he want to show you with the peanut plant?
a. No matter what you are…

b. Humans can…

2. History of DNA:
a. Griffith’s experiment:
i. Used “what” in his experiment?

ii. Big thing he learned: there was a…

b. Avery, McCarty, MacLeod:

i. Looked at Griffith’s experiment and tried to find out…

ii. Used _____________________ that broke down DNA, protein, and DNA

iii. What did they figure out?

c. Hershey and Chase:

i. What did most people think the transforming agent was?

ii. What did they work with?

iii. What did they show?

d. Watson, Crick, Wilkins, Franklin & Chargaff:

i. Wilkins and Franklins were doing experiments with:

ii. Chargaff: found out that the amount of ….

iii. Watson and Crick

1. Watson sat in one of _____________________ secret meetings
2. Used the information from _______________________ to help build models to
figure out the structure of DNA
3. Structure of DNA:
a. DNA is wrapped around ….
b. Prokaryotic chromosome:
i. They have a ___________________ not a linear shape like eukaryotic chromosome
ii. They have extra DNA called:
iii. Prokaryotic cells do not have ________________ DNA
 Name: ____________________________ Period: _____
DNA & RNA Video Notes​: Part II
1. Structure of DNA and RNA
a. RNA is a ___________________ whereas DNA is…
b. What three parts do they have in common?

c. What sugar is in place of deoxyribose in RNA?

d. What base is in place of thymine in RNA?

2. DNA replication:
a. First step: ______________zip it
b. Can only add new bases on the _______ prime end.
c. Lagging strand has to ________________ stitch
3. Central Dogma:
a. Who coined the term?

b. It explains how DNA → RNA →

c. First step:

d. The copy of DNA is called:

e. DNA stays within the

f. mRNA will feed through a (big green structure):

g. tRNA brings in

h. amino acids are the building blocks of

i. Translation: mRNA →
j. Phenotypes: what you physically ….

k. Changes to the DNA will ultimately cause changes in the

l. The extended phenotype: an ___________________ of genes and selected for. The behavior is
selected for

4. Genetic Engineering:
a. Since DNA is ____________________________ you can insert genes from humans into:

b. You can even insert human genes into:

 Name: ____________________________ Per: _____
Control of Gene Expression in Prokaryotes Inquiry Packet
Why?
Houses usually have a light source in every room, but it would be a waste of energy to leave every light on all the time, so
there are switches to turn off the lights in rooms that are not in use. Sometimes one switch controls several lights in the same
room. Likewise, cells can turn genes on and off based on environmental factors. Sometimes related genes are grouped
together with one switch. This group of genes, along with the sections of DNA that regulate them, is called an operon.

Model 1 – An Inducible Operon

1. What type of operon is illustrated in
Model 1?

2. Consider the operon in Model 1.

Other than the gene that regulates
the operon, how many genes are
contained within the operon?

3. In Model 1, where on the DNA

strand does RNA polymerase bind to
start transcription: the promoter, the
operator, or the terminator?

4. Which direction is the RNA

polymerase moving in Model 1?

5. In which diagram of Model 1 is

transcription/translation occurring
successfully: diagram A or diagram B?
Justify your answer.

6. Consider the non-science meaning of the following terms. Match the purpose with each of these sections in the
operon in terms of gene transcription. Promoter Spot where transcription ends
Operator Spot where transcription begins
Terminator On/Off switch
7. Refer to diagram A in Model 1.
a. What protein does the regulatory gene in Model 1 produce?
b. To what section of the operon does this protein bind?
c. Propose an explanation for why transcription is not occurring in diagram A.

8. Refer to Diagram B in Model 1.

a. When an inducer molecule attaches to the repressor protein, what happens to the repressor protein?

b. How does the change identified in part a allow transcription of the genes in the operon to occur?

Read This!
The lac operon in E. coli is an example of an inducible operon. It codes for several genes that are necessary to metabolize
lactose when it is present in the cell’s environment. Allolactose, a naturally occurring isomer of lactose, acts as the inducer.
When lactose is present in large quantities (and some allolactose is present), the lac operon is switched “on” and several
proteins are produced that help move lactose into the cell and break the lactose into its monomers, glucose and galactose.
9. Explain what would happen within the lac operon in each of the following scenarios:
a. Low lactose

b. High lactose

Model 2 – A Repressible Operon

10. In Model 2, where on the
DNA strand does RNA
polymerase bind to start
transcription?

11. In which diagram of Model

2 is transcription / translation
occurring successfully:
diagram A or diagram B?
Justify your answer.

12. Does the regulatory gene in

Model 2 produce a protein
that is an active or inactive
repressor naturally?

13. Describe the role of the

corepressor molecule in the
repressible operon system
shown in Model 2.

Read This!
The trp operon in E. coli is an example of a repressible operon. The group of genes contained in this operon helps the organism
produce the amino acid tryptophan from other compounds when tryptophan is not present in the cell’s environment. When
tryptophan is present in adequate quantities, the operon is turned “off.”
14. What compound could serve as the corepressor of the trp operon in E. coli based on the description above?

15. Compare and contrast an inducible operon and a repressible operon.

 16. Which type of operon, an inducible one or a repressible one, would an organism likely use to produce enzymes and
other proteins required to metabolize a nutrient in its environment? Justify your answer with specific details from
Model 1 or Model 2.

17. Which type of operon, an inducible one or a repressible one, would an organism likely use to produce enzymes and
other proteins required for the cell to manufacture a molecule needed from smaller molecules in the environment?
Justify your answer with specific details from Model 1 or Model 2.

18. Propose an explanation for why operons evolved in prokaryotes. What advantage do organisms have when they
group genes together with a regulatory system?

Read This!
The regulatory mechanisms in the operons in Model 1 and Model 2 of this activity are both considered negative control of
the genes because they both involve a repressor protein that turns the operon “off.” Operons are said to have positive control
when a protein or enzyme can turn them “on” or enhance their function by making it easier for RNA polymerase to bind to
the promoter.

Model 3 – Positive Control of a Gene

19. In which diagram of Model 3 is
transcription occurring test
successfully: diagram A or
diagram B? Justify your answer.

20. In Model 3, where on the DNA

strand does RNA polymerase
bind to start transcription?

21. Propose an explanation for why

RNA polymerase is not bound
to the promoter in diagram A of
Model 3.

22. Refer to diagram A in Model 3.

a. What protein does the regulatory
gene in Model 3 produce?

b. To what section of the operon

does this protein bind?
 c. Can the protein produced by the regulatory gene in Model 3 bind to the operon itself? If no, describe what
must occur in order for it to bind.

d. Propose an explanation for why transcription is not occurring in diagram A but is occurring in diagram B.

23. Propose an explanation for why the regulatory protein in Model 3 is called an “activator” protein.

24. Compare and contrast the positive control mechanism of Model 3 with the negative control mechanisms in Models
1 and 2.

25. Choose one of the Models in this activity. What conditions would need to be present in the cell in order to reverse
the regulatory conditions in the model (i.e., turn the gene “off” once it has been turned “on”).

26. Some mutations can disable genes. What might be the result of such a mutation within the lac I regulatory region of
the lac operon?
 Name: ____________________________ Per: _____
Genetic Mutations Inquiry Packet
Why?
The genes encoded in your DNA result in the production of proteins that perform specific functions within your cells. Various
environmental factors and spontaneous events can lead to changes in genes. These changes, called mutations, can lead to
alterations in the structure and activity of the proteins your cells use in their daily activities. In other words, changes to your
genotype can result in changes to your phenotype. We all have mutations in most of our body cells—yet we are, for the most
part, normal and functional human beings. How can that be?

Model 1 – Gene Mutations

1. How many nucleotides are present in the “normal” DNA sequence in Model 1?

2. How many codons are contained in the mRNA that is produced by the “normal” DNA in Model 1?

3. How many amino acids will be in the polypeptide produced by the normal DNA/mRNA sequence?

4. What is the amino acid sequence of the polypeptide produced by the “normal” DNA sequence in Model 1?

5. Consider DNA sequence 2 in Model 1. The mutation in that sequence is a substitution mutation.
a. Compare sequence 2 with sequence 1 and describe the mutation that has occurred.

b. What is the effect of this substitution mutation on the amino acid sequence?

6. Consider DNA sequence 3 in Model 1. The mutation in that sequence is an insertion mutation.
a. Compare sequence 3 with sequence 1 and describe the mutation that has occurred.

b. What is the effect of the insertion mutation on the amino acid sequence as compared to the “normal” amino
acid sequence in Model 1?

7. Consider DNA sequence 4 in Model 1. The mutation in that sequence is a deletion mutation.
a. Compare sequence 4 with sequence 1 and describe the mutation that has occurred.

b. What is the effect of the deletion mutation on the amino acid sequence as it is compared to the “normal”
amino acid sequence in Model 1?
 8. With your partner, use grammatically correct sentences to define each of the following mutations.
a. Substitution mutation—
b. Insertion mutation—
c. Deletion mutation—
9. Considering your knowledge of codons and how they code for an amino acid, would all substitution mutations lead
to a change in the amino acid sequence? Explain your reasoning.

10. Would all insertion or deletion mutations lead to a change in the amino acid sequence? Explain your reasoning.

11. What could potentially cause more damage (or a greater benefit) to an organism, a substitution mutation or an
insertion mutation? Explain your reasoning.

12. What could potentially cause more damage (or a greater benefit) to an organism, a deletion mutation at the
beginning of a DNA sequence or at the end of a DNA sequence?

13. All of the DNA and mRNA sequences in Model 1 have ellipses (...) on one or both ends of the sequences shown.
Propose an explanation for this use of this symbol in that context.

14. The amino acids produced from sequence 1 and sequence 2 in Model 1 do not have ellipses on the end of them,
however the amino acids produced from sequence 3 and sequence 4 do have ellipses. Propose an explanation for
the use or absence of the ellipses on these sequences.

15. Insertion and deletion mutations are said to cause shifts in the “reading frame” (the sets of three nucleotides) of the
mRNA. Substitution mutations do not cause these so-called frameshifts. Explain why insertions and deletions are
called frameshift mutations, using the terms reading frame, codons, and amino acids in your answer.

Model 2 – Comparing Substitution Mutations

16. For each of the mutations A – D above, circle the substitution by comparing the mutated DNA with the original DNA.
 17. As a pair, describe the range of changes in the amino acid sequence that can result from this type of mutation.

18. Gene mutations can be positive, negative or neutral. Suppose that the normal gene in Model 2 produced a
polypeptide that was necessary for cellular respiration.
a. Choose a mutation from those in Model 2 that would be neutral for a cell. Explain your reasoning by relating
the mutation to the cellular respiration process.

b. Choose a mutation from those in Model 2 that might be positive for a cell. Explain your reasoning by relating
the mutation to the cellular respiration process.

c. Choose a mutation from those in Model 2 that might be negative for a cell. Explain your reasoning by relating
the mutation to the cellular respiration process.

Read This!
Mutations are the source of all new alleles in nature. Variations in alleles lead to variations in organisms within a population.
Positive mutations lead to the organism having a better chance of survival, which means the mutation may be passed on to
the offspring. Negative mutations may lead to an early death— probably before the organism can produce offspring.
Therefore, changes in alleles from one generation to another form the basis of evolution.

19. Which types of mutations, positive, negative or neutral, are most likely to be seen in offspring several generations
after the mutation occurred? Explain your reasoning.
20. Consider the following scenarios. State whether the mutation is likely to be passed on to the offspring of the
organism, and explain your reasoning.
a. A single bacteria cell contains a positive mutation in its DNA.

b. A skin cell on a cat contains a positive mutation in its DNA.

c. A sperm cell in a whale contains a positive mutation in its DNA.

21. All cells have DNA errors due to the mistakes that occur each time DNA is replicated prior to cell division. There are
proofreading enzymes in cells that correct many of these mistakes, but on average, 3 – 5 errors are found in DNA
after each replication.
a. If each cell has multiple mutations, why do most of us have normally-functioning tissues and organs?

b. Why is only a tiny subset of these mutations passed on to our children?

22. A gene mutation is a change in the sequence of nucleotides that occurs during cell replication (mitosis and meiosis)
within a single coding section of DNA. Mistakes can also occur in the transcription of mRNA or the translation of a
polypeptide. However, these changes are not considered to be mutations, because they are not permanent changes
to the cell. Explain why “mistakes” in transcription or translation are not as serious as mutations in a gene.
 Name: _____________________________ Per: _____
The Impact of Mutations
The Belgian Blue Mound of Beef
The Belgian Blue Beef Cattle is a breed of cattle that is extremely muscular. At two years of age, males can weigh
over 1700 pounds, and females over 1100 pounds! This breed originated in the 1850’s in Belgium as a result of
breeding two different types of cattle. One question biologists have obviously asked is, what causes these cattle
to develop such large muscles? Is it their diet, the exercise they get, or something in their DNA? We are going
to look at some evidence today that suggests that the secret lies in their DNA.

Myostatin:
Myostatin (which is also called growth and differentiation factor-8) is a protein found in the skeletal muscle of
mammals. It is a growth factor - a molecule that plays a part in controlling cell division, cell growth, and cell
development. Experimenters at Johns Hopkins University discovered the role of the gene first in mice. Mice
were engineered that had the myostatin gene “knocked out” (which means it didn’t work). The resulting mice
developed two to three times more muscle than mice with a normal version of the gene. The mice were
described as looking “like Schwarzenegger mice” by the experimenters. Analysis of the muscle tissue of the mice
showed that the number of muscle cells and size of muscle cells was two to three times greater in the muscle
tissue of the knockout mice than in normal mice.

Mutations – There are 3 possible results from a point mutation, deletion, or insertion occurring:
1. Silent mutation: The mutation does not result in a change the amino acid sequence.
2. Missense mutation: One amino acid in the protein sequence to be changed to a different one.
3. Nonsense mutation: A mutation that results in a stop codon where there used to be a codon for an
amino acid. This results in translation being stopped before the primary structure of the protein is
complete.

1. Where is myostatin found? _________________________________________________________

2. What is a growth factor?
________________________________________________________________________________
3. What is meant by the term “knockout mice”?
________________________________________________________________________________
4. Which type of mutation will have no effect on an individual?
________________________________________________________________________________
5. Which type of mutation will probably have the most serious effect on an individual? Why?
________________________________________________________________________________
 • Using the DNA sequence for normal myostatin below, determine the amino acid sequence for normal
myostatin. *NOTE* YOU ARE ONLY TRANSCRIBING AND TRANSLATING A SMALL PORTION OF THE DNA
SEQUENCE FOR THIS PROTEIN. YOU HAVE THE DNA SEQUENCE FOR AMINO ACIDS 273 – 288 OUT OF
A TOTAL OF 376 AMINO ACIDS IN THE PROTEIN.
• Using the DNA sequence for Belgian Blue myostatin below, determine the amino acid sequence for
Belgian Blue myostatin. Again, you have only a small portion of the DNA sequence for the Belgian Blue
myostatin as well, beginning with the triplet for amino acid number 273.
• Using an arrow, point out where the mutation in the DNA sequence for Belgian Blue myostatin is located.

NORMAL MYOSTATIN:

BELGIAN BLUE MYOSTATIN:

1. Based on the appearance of the organisms that have a mutated version of the myostatin gene, what
does the function of myostatin seem to be in mammals?
____________________________________________________________________________________
____________________________________________________________________________________
2. Which type of mutation occurred in the Belgian Blue myostatin?
___________________________________________________________________________________
3. How many bases were changed, inserted, or deleted in the Belgian Blue myostatin?
___________________________________________________________________________________
4. What was the result of the mutation that occurred? (was this a silent, missense, or nonsense mutation?)
____________________________________________________________________________________
5. What level of structure of the Belgian Blue myostatin protein is the most directly affected by this
mutation?
___________________________________________________________________________________
6. A breed of cattle called the Piedmontese cattle has the same type of extra muscle as the Belgian Blue
cattle; however, the mutation to the myostatin gene is different. It is caused by a point mutation that
changes a guanine to an adenine at DNA nucleotide number 941. This causes cysteine to be replaced
with Tyrosine in the amino acid sequence. Is this a silent mutation, missense mutation, or nonsense
mutation?
___________________________________________________________________________________
7. With both the Belgian Blue cattle and the Piedmontese cattle which level of protein structure, that is so
important in determining how the protein will function, is probably disrupted? Why is it disrupted?
___________________________________________________________________________________
___________________________________________________________________________________
PART 2:

Hemoglobin:
Hemoglobin is a protein found in the erythrocytes (red blood cells) of mammals.
Its function is to carry oxygen from the lungs to all of the cells of the body, and
carbon dioxide from all of the cells of the body to the lungs. The protein consists of
574 amino acids that are arranged into 4 subunits. 2 of the subunits are identical
to each other and called alpha-globin subunits. The other 2 subunits are also
identical to one another, but are called beta-globin subunits.

Sickle Cell Anemia:

In an individual with sickle cell anemia, the red blood cells,
which are responsible for carrying oxygen and carbon dioxide
throughout the body, are shaped like the letter “C”. Normal red
blood cells, on the other hand, are shaped like a doughnut
without a hole in the middle. The reason for the misshapen cell
in individuals with sickle cell anemia is the hemoglobin protein
in the red blood cells is abnormal. The sickle-shaped red blood
cells don’t pass through blood vessels easily, and tend to clump
and stick together. This can lead to severe pain, serious
infections, and organ damage.

Anemia is having less than the normal number of red blood

cells. The red blood cells in individuals with sickle cell anemia
only live 10-20 days, whereas a normal red blood cell lives for
120 days.

1. Where is hemoglobin found?

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2. What is the role of hemoglobin in the body?
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3. What is the name of the 2 different types of subunits that
make up a hemoglobin molecule, and how many of each
subunit are found in one hemoglobin molecule?
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4. Compare the shape of a normal red blood cell to a red blood cell in someone with sickle cell anemia.
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5. What is anemia, and why do people with sickle cell anemia have anemia?
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• Using the DNA sequence for normal hemoglobin on the below, determine the amino acid sequence
for normal hemoglobin. **NOTE** YOU ARE ONLY TRANSCRIBING AND TRANSLATING A SMALL
PORTION OF THE DNA SEQUENCE FOR THE BETA-GLOBIN SUBUNIT OF THE PROTEIN. YOU HAVE THE
DNA SEQUENCE FOR AMINO ACIDS 1-7 OUT OF A TOTAL OF 146 AMINO ACIDS IN THE BETA-GLOBIN
SUBUNIT.
• Using the DNA sequence for sickle cell hemoglobin on the below, determine the amino acid
sequence for sickle cell hemoglobin. Again, you have only a small portion of the DNA sequence for the
sickle-cell beta-globin subunit as well, beginning with the triplet for amino acid number 1.
• Either circle or highlight where the mutation for sickle-cell hemoglobin is located.
1. Which type of mutation occurred in the gene for sickle-cell hemoglobin?
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2. How many bases were changed, inserted, or deleted in the gene for sickle-cell hemoglobin?
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3. What was the result of the mutation that occurred? (was this a silent, missense, or nonsense mutation?)
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4. Only people who have inherited 2 affected genes (one affected gene from each parent) for hemoglobin
actually have sickle cell anemia. The average life expectancy of someone with sickle cell anemia is around
45 years. If someone inherits one affected gene for hemoglobin and one normal gene, they are said to
have sickle cell trait. Individuals with sickle cell trait are less susceptible to malaria than individuals who
inherit two normal versions of the hemoglobin gene. Given this information, why do you suppose that
sickle cell trait and sickle-cell anemia are much more prevalent in the African-American population than
in any other race of individuals in America?
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5. Sickle cell anemia is more common in our modern population than in the past, and individuals with sickle
cell anemia are living much longer lives than they used to. Why do you suppose this is the case?
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6. In the spaces provided below write a 3 nucleotide DNA sequence, then transcribe and translate it. Then
change one letter in the DNA sequence so that the amino acid does not change.

What type of mutation is this? _________________________________________________________

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