Genes and Gene Action

20
After you have finished reading this chapter, you should be able to:
Explain how DNA is copied into RNA by the process of transcription.
Describe how mRNA builds a protein by the process of translation.
Discuss the importance of codons, anticodons, and peptide bonds to
the process of translation and protein synthesis.

All evolution is nothing but a struggle among genes.

Stephen Jay Gould,
Hen’s Teeth and Horses’s Toes

Introduction
Genes are one thing we all get from our parents. We say that we hope we
get “good genes.” Now that DNA has been shown to be what makes up the
genetic material, it is time to look more closely at genes. What is a gene?
In 1908, an English doctor, Sir Archibald Garrod, was explaining his
new ideas about diseases to other doctors. As an example, Garrod told
about a man who had a disease that made his urine black instead of yel-
low. All his life he had produced black urine. Most people have an enzyme
that destroys the black substance in urine. Garrod believed that people
who produce black urine lack the gene that makes the needed enzyme. His
idea suggested that each gene is responsible for producing a single enzyme.
Garrod was the first person to suggest what a gene is and how it works.

■■ GENES AND PROTEINS

Every cell can be thought of as a “chemical factory.” In every cell, many

different chemical reactions are taking place at the same time to keep the
cell alive. All the chemical reactions that occur in a cell make up its

423
424 Genetics and Molecular Biology

Figure 20-1 The genes of the didinium, a one-celled organism, contain the
instructions for making the enzymes that will digest the paramecium it has caught.

metabolism. Scientists have learned that a specific enzyme controls each

metabolic step, and that cells make their own enzymes. Where do the
cells get the directions for making these enzymes? Garrod and other
researchers have shown that the directions for making each enzyme are
located in each cell’s genes. (See Figure 20-1.)
Enzymes are proteins. Genes, which instruct cells to make enzymes,
are therefore really packages of information that tell a cell how to make
proteins. Proteins are polymers, or long chains, of amino acids. As you
learned already, there are 20 different types of amino acids. Valine, phenyl-
alanine, glycine, tryptophan, and serine are some of these amino acids.
The order in which amino acids are joined determines which protein is
made. Every different protein molecule has a unique sequence of amino
acids. (See Figure 20-2.)
Genes are specific sections of DNA molecules that are made up of lin-
ear sequences of nucleotides. Proteins are linear sequences of amino acids.
The big question is: How do cells use a linear sequence of nucleotides in
DNA to build a linear sequence of amino acids for a protein? This ques-
tion was answered by investigations carried out during the 1950s and

G
Enzyme
6
F
Figure 20-2 Genes instruct cells
Enzyme
to make various enzymes. A specific Enzyme Enzyme Enzyme Enzyme 5
1 2 3 4
enzyme controls each metabolic
step. A B C D E
 Chapter 20 / Genes and Gene Action 425

1960s. This effort has been called “breaking the genetic code.” In a real
sense, the secret of life was no longer a mystery.
In eukaryotic cells, DNA is stored in the nucleus. The construction of
cell proteins occurs outside the nuclear membrane. Protein synthesis
occurs at the ribosomes. These small organelles are distributed through-
out the cytoplasm in all eukaryotic cells. How does the genetic informa-
tion in the DNA within the nucleus get to the ribosomes? A third type of
molecule, ribonucleic acid, or RNA, works as a helper to transfer the
information. A flow of information can be described. Information flows
from DNA to RNA to protein. We can now examine in more detail how
this process works. (See Figure 20-3.)

Protein
synthesis
RNA
DNA
in
Nucleus Ribosomes

Cytoplasm Figure 20-3 The flow of genetic

information in a eukaryotic cell.

■■ FROM DNA TO RNA

LIVING ENVIRONMENT BIOLOGY, 2e/fig. 20-3 s/s
Each gene is a portion of a chromosome, in effect a portion of the
nucleotide chain. To be able to move the information in the nucleotide
sequence out to the ribosomes, a messenger is needed. An RNA molecule
called messenger RNA does this job.
The structure of RNA differs from that of DNA. RNA contains the sugar
ribose instead of deoxyribose. Because of this difference, the enzymes that
work with RNA are able to distinguish it from DNA. RNA has four
nucleotides, just like DNA, but not the same four. Like DNA, RNA contains
adenine, cytosine, and guanine; but RNA substitutes uracil for thymine.
Thus, the RNA nitrogenous base uracil pairs with adenine, as thymine
does in DNA. Finally, RNA molecules usually consist of only a single
strand. The single-stranded RNA can more easily interact with other mol-
ecules than can the double-stranded DNA molecule. (See Figure 20-4, and
the table below it, on page 426.)
DNA is copied into RNA by a process called transcription. Transcrip-
tion is similar to DNA replication. The DNA double helix opens up where
426 Genetics and Molecular Biology

H H
HO O H C OH HO O H C OH
C H H C C H H C
H H H H
C C C C
H OH OH OH
a. Sugar in DNA-deoxyribose b. Sugar in RNA-ribose
P P
D A A
R

P P
D T R U

P P
D G R G

P P
D C R C

c. Bases in DNA d. Bases in RNA

Figure 20-4 The bases in DNA are adenine, cytosine, guanine,

and thymine. RNA substitutes uracil for thymine.
LIVING ENVIRONMENT BIOLOGY, 2e/fig. 20-4 s/s
DIFFERENCES BETWEEN DNA AND RNA

Deoxyribonucleic Acid (DNA) Ribonucleic Acid (RNA)

Is stored in the nucleus (of eukaryotic cells)
Contains the sugar deoxyribose
Has four nucleotides: adenine, cytosine,
guanine, and thymine
Consists of a double-stranded molecule
Moves out of nucleus to ribosomes in the
cytoplasm
Contains the sugar ribose
Has four nucleotides: adenine, cytosine,
guanine, and uracil (substitutes for thymine)
Consists of a single-stranded molecule

a particular gene is located. Special enzymes begin to match up ribose-

containing nucleotides (RNA) with the correct nucleotides in the DNA.
(See Figure 20-5a.) The base-pairing rules are followed: A-U, T-A, G-C, and
C-G. A messenger RNA, or mRNA, molecule is built. It has a nucleotide
sequence that is complementary to the DNA strand it copied. This means
that the mRNA molecule has the same nucleotide sequence as one strand
of the original DNA, except where uracil is substituted for thymine. (See
Figure 20-5b.) The newly formed mRNA separates from the DNA, and the
double helix closes. The mRNA then moves out of the nucleus through
pores in the nuclear membrane to the ribosomes in the cytoplasm.
 Chapter 20 / Genes and Gene Action 427

RNA polymerase
RNA nucleotides

T C C A A T
A T U
C

G
T U
A

G
CA U C C A
T
T A G G T T A

Direction of DNA strand

transcription

Newly made mRNA

Figure 20-5a By a process called transcription, DNA is copied

into RNA.

T C A T C C A A T T G G DNA in
LIVING ENVIRONMENT BIOLOGY, 2e/fig. 20-5a s/s
A G T A G G T T A A C C nucleus
Same
nucleotide
sequence
mRNA in
U C A U C C A A U U G G cytoplasm

Figure 20-5b DNA and RNA nucleotide sequences.

■■ FROM RNA
LIVING TO PROTEIN
ENVIRONMENT BIOLOGY, 2e/fig. 20-5b s/s

So far we have solved one problem. We have moved the genetic infor-
mation, stored as a nucleotide sequence, from the nucleus to the cyto-
plasm by using mRNA. However, another problem still remains: how to
use the nucleotide sequence in the mRNA molecule to build a protein
with the correct sequence of amino acids. This problem involves a change
of “language.” Going from one spoken language to another is called trans-
lation. The genetic process that now occurs—using the mRNA molecule
to build a protein—is also called translation. The nucleotide language of
RNA must be translated into the amino acid language of proteins. This
translation occurs at the ribosome. It is necessary to figure out how the
four different nucleotides present in mRNA—A, C, G, and U—can be used
to assemble 20 different types of amino acids in the correct order to form
a particular protein. Clearly, one nucleotide cannot represent one amino
acid. If the nucleotides were taken in pairs, there would be only 16 dif-
ferent pairs possible (42). Try it yourself: AA, AT, AC, AG, TA, TT, TC, TG,
and so on. This still does not provide enough codes for the 20 amino
428 Genetics and Molecular Biology

acids. The information of the mRNA nucleotide sequence must make at

least 20 different “words,” one for each amino acid. If we take a sequence
of three nucleotides at a time, we get 43 or 64 different combinations—
plenty of combinations to code for 20 amino acids! Indeed, through sev-
eral years of ingenious research in the early 1960s, this is exactly what
scientists discovered.
Built into every living cell in the world is a genetic code. It is called
the triplet code. Each different combination of three nucleotides makes up
a word, called a codon. Each codon represents a specific amino acid. Each
of the 20 amino acids has at least one codon, and most have more than
one. (See Figure 20-6.) This genetic code is universal. For example, the
codon CCU stands for proline in bacteria, worms, sharks, polar bears,
trees, and humans. GCA stands for alanine. AGA means arginine in all
organisms, and so on. All organisms on Earth use the same genetic code.
This important similarity in living things is convincing evidence that all
organisms evolved from a common ancestral cell life-form in Earth’s far
distant past.

■■ CRACKING THE GENETIC CODE

The cracking of the genetic code was one of the most fascinating accom-
plishments in recent scientific research. It occurred about 10 years after
Watson and Crick first revealed the structure of DNA. At that time, sci-
entists were faced with the same kind of puzzle as government specialists
who crack secret enemy military codes. However, the scientists needed
more than pencils and paper to solve the genetic code. The tools they
used to crack the genetic code turned out to be test tubes of chemicals
and the inner contents of bacteria.
Marshall Nirenberg, at the National Institutes of Health, was the
researcher who cracked the code. Nirenberg began by collecting the con-
tents of bacterial cells in test tubes. By adding RNA to the test tubes,
Nirenberg found that proteins were synthesized. It did not matter what
organism the RNA came from. The test tubes contained ribosomes from
bacterial cells plus everything else needed for protein synthesis. The ribo-
somes accepted and used the instructions for making proteins from the
RNA, even if the RNA was from another organism.
Nirenberg decided to use these artificial protein factories in his test
tubes. However, now he added a very special RNA. Another scientist,
Severo Ochoa at New York University, had learned how to assemble
nucleotides into a long strand of RNA. Ochoa had been able to make a
 Chapter 20 / Genes and Gene Action 429

Second Position
U C A G
UUU UCU UAU UGU U
Phe Tyr Cys
UUC UCC UAC UGC C
U Ser
UU A UC A UA A Stop UGA Stop A
Leu
UUG UCG U AG Stop UGG Trp G

CUU CCU CAU CGU U

His
CUC CCC CAC CGC C
C Leu Pro Arg

Third Position
First Position

CU A CC A CA A CGA A
Gln
C UG CCG C AG CGG G

A UU A CU A AU A GU U
Asn Ser
A UC Ile A CC A AC A GC C
A Thr
AUA ACA AAA AGA A
Lys Arg
A UG Met A CG A AG AGG G

GU U GC U GA U GGU U
Asp
GU C GC C GA C GGC C
G Val Ala Gly
GU A GC A GA A GGA A
Glu
GUG GCG GAG GGG G

Figure 20-6 Amino acid triplet codes.

LIVING ENVIRONMENT BIOLOGY, 2e/fig. 20-6 s/s (rev. 10/22/03)

long RNA molecule that contained only uracil. The molecule was called
“poly-U.”
Nirenberg placed the poly-U into his test tube protein factories. After
allowing time for protein synthesis to occur, he analyzed the results. What
had been made? A polypeptide that contained a single amino acid, pheny-
lalanine, repeated over and over again. Nirenberg and his colleague, Hein-
rich Matthaei, had sent the test tubes the following message: “uracil . . .
uracil . . . uracil . . . uracil . . . uracil . . . uracil . . . ”
The ribosomes in the test tube translated this message into: “pheny-
lalanine . . . phenylalanine . . . ” and so on. In effect, UUU-UUU = Phe-Phe.
The first triplet code word had been discovered: UUU is the codon for
phenylalanine. In addition, a method had been established to decipher
the rest of the genetic code. By adding different RNA molecules to the
test tubes, each of the codons was discovered. By 1965, all 64 possible
nucleotide triplets had been decoded. A 3.5-billion-year-old secret, the
genetic code, had been deciphered.

Check Your Understanding

Where does protein synthesis take place in a cell? How did these
organelles help scientists decipher the genetic code?
430 Genetics and Molecular Biology

■■ TRANSLATION

All that remained to be discovered was what are the translators. What
identifies the nucleotide triplets, that is, the codons that are lined up
along the mRNA molecule? What matches these codons with the corre-
sponding amino acids? That is, what translates the RNA code into a pro-
tein? A large group of hardworking molecules known as transfer RNA, or
tRNA, does this job. A tRNA molecule has a “split personality.” Located at
one end of the molecule is a triplet of nucleotides called the anticodon.
At the other end of the molecule, an amino acid is attached. (See Figure
20-7.) What would the “correct” amino acid be? The genetic code is
needed to explain this. The table of triplet codes shows that the codon
CCU stands for proline. If we use the base-pairing rules, we can deter-
mine that the anticodon—a triplet of nucleotides that will pair up with
the codon—for CCU is GGA. Therefore, the tRNA molecule with proline
at one end will have an anticodon of GGA at the other end. Similarly, for
the codon GCA, there will be a tRNA molecule with an anticodon CGU
on one end, and alanine as the amino acid on the other end.
The ribosomes are the organelles where the codes are read and the pro-
teins are assembled. The mRNA molecule passes through a large groove in
the middle of the ribosome. The ribosome’s structure allows only one
codon in the mRNA to be exposed at a time. The cell’s cytoplasm is full
of countless free-floating tRNA molecules. As the first codon in the mRNA
molecule is exposed at the ribosome, the correct tRNA—that is, one with

Amino acid

Point of Tail
amino acid
attachment

A
U C

Figure 20-7 A tRNA anticodon. Anticodon

LIVING ENVIRONMENT BIOLOGY, 2e/fig. 20-7 s/s

 Chapter 20 / Genes and Gene Action 431

a matching anticodon—lines up. It brings the amino acid it carries into

place. This amino acid remains at the ribosome. The empty tRNA leaves
the ribosome. The ribosome moves to the next codon on the mRNA
chain. A tRNA with the matching anticodon delivers its amino acid to
the ribosome. This second amino acid joins the first one. They are
attached by a strong covalent bond known as a peptide bond. The sec-
ond tRNA leaves without its amino acid. The cycle continues as the ribo-
some moves down the chain of mRNA. (See Figure 20-8.)

Amino acid Forming

polypeptide
Transfer
RNA

Anticodon
Messenger
RNA

Codon Ribosome

Figure 20-8 Model of translation at a ribosome.

Try to picture all of this in motion. A succession of tRNA molecules

LIVING ENVIRONMENT BIOLOGY, 2e/fig. 20-8 s/s
arrives at the mRNA in the ribosome. The correct tRNAs pair their anti-
codons with the exposed codons, bringing the correct amino acids into
position. All this happens as the ribosome moves down the mRNA mol-
ecule, “reading” its message. The tRNA molecules leave, now empty. Also,
the amino acids are being joined to each other, one at a time, in the cor-
rect order. A chain of amino acids is being formed, each amino acid linked
by a peptide bond to the others. This chain of amino acids forms a
polypeptide. When all the amino acids are finally linked, the polypeptide
—by itself or in combination with other polypeptide chains and mole-
cules—forms a protein. It is a specific protein, such as insulin or hemo-
globin, with its own unique amino acid sequence based on the nucleotide
sequence of mRNA. And that sequence was originally determined by the
nucleotide sequence of the DNA in the cell’s nucleus.
432 Genetics and Molecular Biology

■■ MUTATIONS: A CLOSER LOOK

In Chapter 19, we defined a mutation as a change in the nucleotide

sequence in a DNA molecule. The possible effects of a mutation can now
be explained in terms of what we know about protein synthesis.
The order of nucleotides in DNA determines the order of amino acids
in proteins. In certain cases, a change, or mutation, in one nucleotide will
change the triplet code, which in turn may make a change in an amino
acid. If this change occurs in a body cell, then all other cells in an organ-
ism’s body that reproduced through mitosis from that cell with the muta-
tion will have the change. More important, however, if the mutation
occurs in the DNA of a gamete, and if that gamete fuses with another
gamete in sexual reproduction, then the mutation will be inherited. The
change in the DNA will be passed on to succeeding generations. The new
organism will have the mutation, as will all offspring of that organism.
This will be an inherited condition. On rare occasions, the mutation gives
the organism a better chance of survival. Most of the time, the mutation
makes no difference in the life of an organism. Sometimes, however, the
mutation is bad. In these cases, the individual and its offspring have a
genetic disease.
A well-known example of a genetic disease will make it easier to under-
stand the effects of a mutation. Each of our red blood cells contains mil-
lions of hemoglobin molecules. Molecules of oxygen attach themselves to
hemoglobin and are carried in the blood throughout the body. Hemo-
globin is made up of polypeptide chains. Each of these polypeptide chains
contains 150 amino acids in a row. In order for the hemoglobin molecule
to work properly, it must have a certain shape. The shape of the hemo-
globin molecules depends on having the correct amino acids in the right
order. Therefore, 450 nucleotides in the DNA—one triplet for each amino
acid—must make up a gene for each polypeptide chain in hemoglobin.
Sometimes, one of those 450 nucleotides is not correct. For example,
instead of CTT at one location in his DNA, a person may have CAT. Then,
instead of GAA on his mRNA, he has GUA. The genetic code has been
changed. Instead of putting glutamic acid in place on an amino acid
chain, this mutation inserts valine. (See Figure 20-9.)
One incorrect amino acid out of 150 seems like a very small change.
But it is an important change, and it can be deadly. The disease caused by
the single nucleotide change described here is sickle-cell anemia. With
an incorrect amino acid in place in the polypeptide chain, the shape of a
hemoglobin molecule changes. The red blood cells become long, curved,
 Chapter 20 / Genes and Gene Action 433

Normal hemoglobin DNA Mutant hemoglobin DNA

C T T C A T Figure 20-9 Just one

mRNA mRNA
incorrect nucleotide
out of the 450 that
G A A G U A
make up the gene for
hemoglobin is enough
Normal hemoglobin Sickle-cell hemoglobin to cause sickle-cell
Glu Val anemia.

and twisted—like the grass-cutting tool, the sickle—instead of plump and

LIVING ENVIRONMENT BIOLOGY, 2e/fig. 20-9 s/s
round. These deformed cells get stuck in capillaries and cannot transport
sufficient oxygen throughout the body. As a result, people with sickle-cell
anemia tire easily. Other serious consequences may also occur. This dis-
ease can be passed onto succeeding generations. So a single change in the
order of nucleotides in a DNA strand may have profound effects on a per-
son and on that person’s descendants.
The exact order of amino acids in proteins is essential for life. The fact
that life goes on, with the synthesis of proteins occurring all the time,
shows how precise the molecular machinery in cells usually is.

■■ GENE EXPRESSION AND CELL DIFFERENTIATION

Chromosomes contain extremely long DNA molecules. Many genes are

stretched out along these molecules. For example, it is estimated that
there are 30,000 to 50,000 different genes on the 46 chromosomes in
human cells. We know that following fertilization, every cell of the grow-
ing organism arises from the mitotic cell division of other cells. Through
mitosis, every cell in our body has 46 chromosomes with the same DNA
as the original fertilized egg cell.
But there are different types of cells in our bodies. We have skin cells,
muscle cells, bone cells, nerve cells, blood cells, and so on. All of these
cells have the same DNA in them. So why are these cells so different from
each other? The answer is that only certain genes are used in certain cells.
The use of the information from a gene is called gene expression. Pro-
teins are synthesized only from genes that are expressed; these genes are
turned on. All other genes in a cell are kept silent; they are turned off.
This gives the cell its own structure, enzymes, functions, and physical
characteristics. A muscle cell is able to contract, a nerve cell to transmit
an impulse, and a skin cell to help form a flat protective layer. Creating
434 Genetics and Molecular Biology

Human Genome’s Riddle:

Few Genes, Much Complexity
The first big surprise to arise from the decoding of the human genome was
a matter of numbers. Where were all the genes? Rather than 100,000 or
more genes, as scientists had predicted for years, the Human Genome
Project has revealed that humans have perhaps only 30,000 genes. This can
be compared to the fruit fly’s 12,371 genes or the 19,098 genes of the tiny
roundworm Caenorhabditis elegans. But it is not just a matter of human
pride for people to consider themselves more complex. We are more
complex. The little worm C. elegans, with over 19,000 genes, has a body of
only 959 cells, of which 302 are neurons—the worm’s “brain.” The human
body, built by perhaps only 50 percent more genes than the worm, has
100 trillion cells, with the brain alone containing 100 billion cells. So where
does the complexity come from?
There are two main ways that scientists think human complexity has arisen.
The first way concerns proteins. Proteins are the working parts of every cell,
and it turns out that proteins themselves have different sections or domains
in them. Ninety-three percent of the protein domains in humans are also in
the worm and the fly. However, it seems that a lot of mixing and matching
of these domains has occurred. Dr. Francis S. Collins, director of the
genome institute at the National Institutes of Health said, “Maybe evolution
designed most of the basic folds that proteins could use a long time ago,
and the major advances in the last 400 million years have been to figure
out how to shuffle those in interesting ways.” The second ingenious way
that evolution seems to have increased complexity is by dividing the genes
themselves into several different segments, and using these segments in
different arrangements to make different proteins.
There are many different ways of thinking about human complexity. One
scientist has compared people to the machines created by them. Dr. Jean-
Michel Claverie of the French National Research Center writes, “In fact,
with 30,000 genes, each directly interacting with four or five others on
average, the human genome is not significantly more complex than a
modern jet airplane, which contains more than 200,000 unique parts, each
of them interacting with three or four others on average.”

the special types of cells through controlled gene expression is called cell
differentiation. This is an essential process of life. Without cell differen-
tiation, our bodies would be made up of only one type of cell. Your body
might be simply 100 kilograms of red blood cells. That would mean life
in a jar, which would not be much of a life at all! (See Figure 20-10.)
You may wonder what controls gene expression. So far, the best that
 Chapter 20 / Genes and Gene Action 435

Blood cells

Top view Cross section

Red blood cells White blood cell Platelets

Cilia Foreign particle

One nerve cell
Mucous
secretion
Nucleus Nucleus
Cytoplasm Cytoplasm
Cell Branches
membrane
Epithelium Neurons

Hard
matter between
bone cells Canal Connective
in bone tissue cell
Bone
cell Fibers in
substance
between cells

Bone tissue Fibrous connective tissue

Cytoplasm Cell membrane Nucleus

Striped muscle

Cytoplasm Cell membrane Nucleus Cytoplasm Cell membrane Nucleus

Smooth muscle Heart muscle
Figure 20-10 The types of cells that make up the human body.
LIVING ENVIRONMENT BIOLOGY, 2e/fig. 20-10 s/s (rev. 10/22/03)
436 Genetics and Molecular Biology

scientists can say is that environmental factors influence gene expression.

By environment, they mean conditions both outside and inside the cell.
One of the most exciting areas of research today is the study of what these
conditions are. Almost every day, new substances are being discovered
that have some influence on which of the many genes in each cell are
expressed.
In addition to this research, and just as fascinating, is the study of mas-
ter control genes that regulate the activity of other genes responsible for
building an organism’s body. These master control genes are needed to
put together each part of an organism in the correct place and order, that
is, from “head to tail.” Amazingly, the control genes are almost identical
whether the animal is a fruit fly, a frog, a mouse, or a human.

■■ RETROVIRUSES: EXCEPTIONS TO THE RULE

In 1956, Francis Crick was so certain of the idea that genetic information
flows in only one direction, from DNA to RNA to proteins, that he named
it the “central dogma.” A dogma is an idea or set of ideas that is consid-
ered absolutely true. However, having read this far in the book, you might
expect that there are exceptions to this rule, as we have seen elsewhere in
biology. It turns out that Crick’s central dogma is almost always true. Sci-
entists have discovered a few rare exceptions, which are very important.
Viruses are essentially pieces of genetic material, usually contained
within a protective protein coat. Viruses must enter a living cell in order
to reproduce. When they enter a cell, viruses usually cause problems.
Viruses are the cause of the common cold, influenza (flu), and diseases
such as AIDS and herpes. Most viruses contain a DNA molecule. As would
be expected, this is their genetic material. Surprisingly, however, some
viruses contain RNA as their genetic material. (See Figure 20-11.)

Glycoprotein

Capsid

Viral envelope
Figure 20-11
Some viruses RNA (two identical strands)
contain RNA as their
genetic material. Reverse transcriptase
However, most have
DNA as their
genetic material.
 Chapter 20 / Genes and Gene Action 437

HIV

RNA

Reverse
transcriptase

DNA

Transcription

mRNA

Translation

Proteins for
viruses
HIV
Figure 20-12 HIV, a
HIV
retrovirus, changes its RNA
HIV
code into a DNA code.

One of today’s best-known viruses, HIV (human immunodeficiency

LIVING ENVIRONMENT BIOLOGY, 2e/fig. 20-12 s/s
virus), is an RNA virus. Therefore, HIV is called a retrovirus. (The prefix
retro- means “backward.”) In a retrovirus, the flow of genetic information
at first goes in the reverse direction. That is, a retrovirus first changes its
RNA code into a DNA code. It does this after infecting a cell, because the
cell knows how to work only with DNA as the starting genetic material.
Retroviruses carry with them the enzyme to make the process go in this
opposite direction. It is called reverse transcriptase. As soon as HIV infects
a cell, reverse transcriptase transcribes DNA from the virus’s RNA. Then
the viral DNA in the cell is used to build more copies of the virus. (See Fig-
ure 20-12.) One of the first medicines used to limit the effects of HIV in
infected people was AZT. AZT interferes with the action of the enzyme
reverse transcriptase. It is, however, not a cure for this disease. A person
remains infected with HIV even while taking AZT.
You will study more about reverse transcriptase in Chapter 23. It is
one of the most useful tools for molecular biologists who work with DNA.
 LABORATORY INVESTIGATION 20
How Does DNA Direct the
Construction of Proteins?

INTRODUCTION
Scientists consider DNA to be the most important molecule in biology
because it contains the instructions that organisms use to build proteins.
One protein molecule that performs important functions in the body is
insulin. The protein insulin is a hormone that is produced in the pan-
creas. It lowers the level of blood sugar. Insulin also increases the storage
of glycogen in muscles and in the liver. Insulin consists of three chains of
amino acids. The gene for insulin was one of the first genes to be identi-
fied. In this investigation, you will study how the protein insulin is made
from DNA. The codes for the first six amino acids in one of insulin’s two
chains are: Thr Lys Pro Thr Tyr Phe.

MATERIALS
Paper clips: 10 black, 10 white, 10 red, 10 green, and 10 yellow

PROCEDURE
1. In pairs or small groups, write down the DNA code for the six amino
acids listed above. Find the codes for each amino acid in Figure 20-6.
2. Use the paper clips as DNA letters for each nucleotide. Make a model
of a strand of DNA for the part of the insulin molecule listed above.
Use the following key:
black = adenine (A)
white = thymine (T)
red = cytosine (C)
green = guanine (G)
yellow = uracil (U)
3. Write your group’s DNA code for the six amino acids of insulin on the
chalkboard. Why might some of the codes be different from the
others?

438 Genetics and Molecular Biology

4. The gene for insulin may be found within a much longer DNA mole-
cule. How does a cell know where the molecule says to start and stop
reading the code for insulin? Study Figure 20-6 for help.
5. Add paper-clip letters to your insulin “gene” at the beginning and end
to show the cell where to start and stop reading it.
6. Remember that in order to make a molecule of insulin, DNA must first
be transcribed to RNA. Then the RNA must be moved out of the
nucleus and translated into a protein at the ribosome. Use your model
of insulin DNA to transcribe another paper-clip chain of messenger
RNA. Use the key in step 2 and the base-pairing rule—with one excep-
tion. What is the exception?

INTERPRETIVE QUESTIONS
1. Why do you think that DNA is kept in the nucleus of the cell even
though the information it contains must be transmitted to other parts
of the cell?
2. Assume that the DNA codon for GGG mutates to GGT. Would this
mutation have an effect on the synthesis of an insulin molecule?
3. Assume that the last DNA codon, AAG, mutates to AAT. Would this
mutation have any effect on the synthesis of an insulin molecule?

Chapter 20 / Genes and Gene Action 439

440 Genetics and Molecular Biology

■■ CHAPTER 20 REVIEW

Answer these questions on a separate sheet of paper.

VOCABULARY
The following list contains all of the boldfaced terms in this chapter. Define
each of these terms in your own words.
anticodon, cell differentiation, codon, gene, gene expression, genetic
code, peptide bond, polypeptide, retrovirus, ribonucleic acid (RNA),
ribosomes, transcription, translation, viruses

PART A—MULTIPLE CHOICE

Choose the response that best completes the sentence or answers the question.
1. The genetic material in retroviruses is a. polypeptides b. DNA
c. RNA d. reverse transcriptase.
2. Proteins are made up of units called a. nucleic acids
b. amino acids c. codons d. monosaccharides.
3. DNA is copied into RNA by a process called a. translation
b. replication c. decoding d. transcription.
4. How many nucleotides make up a codon? a. 1 b. 2 c. 3 d. 4
5. Protein synthesis occurs in the a. ribosomes b. nucleus
c. chromosomes d. anticodons.
6. A mutation a. is always harmful b. involves a change in the
nucleotide sequence c. is never passed on to an organism’s
offspring d. results solely from the action of viruses.
7. One way RNA differs from DNA is that a. RNA is double
stranded, while DNA is single stranded b. DNA contains uracil,
while RNA contains thymine c. RNA is found only in the nucleus
d. RNA contains ribose, while DNA contains deoxyribose.
8. Cell differentiation is the result of a. varying gene expression
b. mutations c. external environmental factors d. different
DNA in different cells.
9. Adenine in DNA pairs with a. adenine in RNA b. uracil in RNA
c. thymine in RNA d. cytosine in DNA.
10. Viruses consist of a. eukaryotic cells b. prokaryotic cells
c. an RNA coat surrounding a polypeptide core d. a protein coat
surrounding a nucleic acid core.
11. Each amino acid is represented by a. one codon only b. one to
six codons c. two codons d. two or more codons.
12. The scientist who figured out the first “word” in the genetic code
was a. Marshall Nirenberg b. Severo Ochoa c. Francis Crick
d. Archibald Garrod.
 Chapter 20 / Genes and Gene Action 441

13. The sequence of nucleotides in mRNA is the same as that of the

DNA strand that was a. transcribed b. not transcribed
c. not transcribed, with the substitution of uracil for thymine
d. not transcribed, with the substitution of cytosine for guanine.
14. The molecule that carries amino acids to the forming polypeptide
is a. ribosomal RNA b. messenger RNA c. transfer RNA
d. DNA.
15. If the codon is AUG, its anticodon is a. AUG b. ATG c. CGA
d. UAC.

PART B—CONSTRUCTED RESPONSE

Use the information in the chapter to respond to these items.

16. Based on the information given in Figure 20-6 on page 429, what is
the sequence of nucleotides in the gene (DNA) shown in the figure
below? What amino acids do these nucleotides code for?

1 2

mRNA
A UGGU U A U A U U U U A C UGC A G A G A UG A A U UGC C C UGG

17. What happens to this mRNA after it leaves the nucleus? Name the
anticodons on the tRNA molecules that interact with it.
18. What would happen
LIVING if the nucleotide
ENVIRONMENT BIOLOGY, at arrow
2e/fig. 1 mutated
20-Q16 s/s into
adenine? What if the same thing happened to the nucleotide at
arrow 2?
19. How is protein synthesis similar to constructing a building?
20. How did scientists “crack” the genetic code?

PART C—READING COMPREHENSION

Base your answers to questions 21 through 23 on the information below and
on your knowledge of biology. Source: Science News (January 25, 2003): vol.
163, p. 54.

Transplanted Male Bone Marrow Makes

Nerve Cells in Women and Girls
An unusual study of the brains of women and girls who had received
transplants of bone marrow from men indicates that marrow cells can
transform into nerve cells. Researchers found that each female brain had
nerve cells containing a Y chromosome, presumably derived from the
transplanted bone marrow.
442 Genetics and Molecular Biology

Over the past several years, numerous research groups have reported
that bone marrow, the source of a person’s blood cells, can transform
into cells of the skin, muscle, heart, liver, and even brain. These lab and
animal studies have raised hopes that bone marrow or cells derived from
it could repair hearts, cure neurological disorders, and treat many other
medical conditions.
Some investigators, however, have challenged the bone-marrow
results. The stakes are high because of the politicized debate over
whether adult stem cells, such as those in bone marrow, are as promis-
ing a therapeutic tool as stem cells derived from embryos are.
In an upcoming Proceedings of the National Academy of Sciences, Eva
Mezey of the National Institute of Neurological Disorders and Stroke in
Bethesda, Md., and her colleagues report their analysis of the brain tis-
sue of two girls and two women. Each had received a bone-marrow
transplant from a male donor in a futile attempt to treat her illness.
Mezey’s group exposed brain-tissue samples from the four females to a
marker that attaches to a DNA sequence unique to a male’s Y chromo-
some. The investigators also applied antibodies specific to nerve cells.
In each case, Mezey and her colleagues identified a small number of
nerve cells with Y chromosomes. For example, one girl studied had
received a bone-marrow transplant when she was 9 months old and
died less than a year later. When researchers examined 182,000 of her
brain cells, they found Y chromosomes in 519—and 19 of those males
cells also displayed nerve cell markers.
Another research team’s unpublished findings mirror Mezey’s study.
Last year, Martin Körbling of the University of Texas M.D. Anderson Can-
cer Center in Houston and his colleagues employed the same Y
chromosome-based strategy to discover bone-marrow-derived skin, gut,
and liver cells in a half-dozen women who had received marrow trans-
plants before dying. Now, Körbling tells Science News, “we have data
showing similar results in midbrain and cortex tissue.”
Diane Krause of Yale University notes that her research team and many
others are vigorously studying the mechanisms by which bone-marrow
cells may transform into cells other than blood cells. Unless researchers
can enhance the pace of this natural cellular makeover, the phenome-
non is unlikely to be of much medical use, both she and Mezey caution.

21. State the basic research question about transplanted bone-marrow

cells that was being discussed in this report.
22. Explain why brain tissue from two girls and two women was being
analyzed by the researchers in Bethesda, Maryland.
23. State the conclusions made by the researchers about the
transplanted bone-marrow cells in these four individuals.