CHAPTER 4

DNA functioning—changes in DNA structure

are reflected in phenotype
The structure of DNA can be changed and such changes
may be reflected in the phenotype of the affected
organism

The phenotype of an organism is its expression. The extent of phenotypic

total appearance determined during differences depends on how different
development by an interaction between the DNA sequences are in individuals,
its genetic make-up (genotype) and but may also be influenced by
the environment. A genome is all of the environment. To what extent
the genetic material (DNA) within a differences in genotype cause differing
cell and is specific to each organism. phenotypes has always been of interest
Genomes influence nearly all the traits to people.
or phenotypes, such as eye colour,
height and susceptibility to disease, and
most variations occur due to differing
genomes. The phenotypic appearance
is therefore directly affected by gene
 http://nobelprize.org/educational_
games/medicine/dna/navigation.
html
Interactive website that relates to several
topics in this chapter.

Beadle and Tatum: The ‘one gene—one polypeptide’

hypothesis
SECONDARY
S EC SOURCE
INVESTIGATION
INVE ■ analyse information from secondary sources to outline
the evidence that led to Beadle and Tatum’s ‘one gene—
BIOLOGY SKILLS
one protein’ hypothesis and to explain why this was
H12.4 altered to the ‘one gene—one polypeptide’ hypothesis
H13.1
Introduction They put forward the hypothesis that one
H14.1; H14.3 gene controls the production of one enzyme.
The proposal that a gene is responsible for This was based on observations made in
the production of a specific protein was first Beadle’s earlier experiments on fruit flies—he
put forward by Archibald Garrod in 1909. This found that if fruit flies with normal eye colour
idea, together with work on the inheritance were exposed to X-rays, their offspring would
of eye colour in Drosophila, led biologists to show a change in eye colour. He hypothesised
investigate the importance of genes in enzyme that this occurred as a result of a defective
production. George Beadle and Edward Tatum enzyme for the eye pigment. Since evidence was
(1941) worked on mutants of the fungus needed to support this hypothesis, Beadle and
Neurospora crassa (a mould), leading to their Tatum designed and carried out an experiment
groundbreaking discovery that genes provide to attempt to mutate genes of the mould
the instructions for making proteins. Neurospora crassa, the enzyme functioning of

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 DNA FUNCTIONING

Figure 4.1 George

Beadle and Edward
Tatum

which they could test fairly simply. Experimental this were later modified as the understanding
evidence led them to propose a hypothesis that of the relationship between genes and proteins
genes affect enzyme production—the details of advanced.

PFA
Prescribed focus area H2: Steps to tackle the question; for
Nature and practice of biology example, analyse the way in which
Beadle and Tatum’s hypothesis was
H2
What the PFA means
validated
■ Biological explanations are provisional and
■ Identify and describe any hypotheses that
biological views at any time depend on the
were tested and/or any supporting evidence TR
evidence available to support these views.
that was collected.
■ As technology advances and understanding
■ Assess these as is common in the nature
increases, new evidence is gathered and it
and practice of science—how have the
may further support a view or it may refute
researchers:
that view, leading to the development of a
—gathered valid data?
new theory or hypothesis. Scaffold PFA H2—
—used scientific thinking and problem-
■ To validate a hypothesis, it is experimentally nature and practice of
solving techniques to draw valid
tested—it makes predictions and is biology
conclusions?
accepted until it fails to make correct
—communicated their findings to the
predictions, at which stage it will be replaced
scientific community (e.g. papers or
by a new hypothesis which must in turn be
books that they published, including any
tested.
technical terms that they introduced)?
—modified their hypothesis as advances
in scientific understanding provided
more recent evidence to support the
hypothesis?

Background information: Beadle and Tatum’s experiment (see

Fig. 4.2):
Beadle and Tatum’s experiment TR
1. They irradiated the bread mould Neurospora
It is important to remember that at the time crassa with X-rays to induce mutations. The
that Beadle and Tatum began their research, resulting mould forms they called mutants.
biologists were still not sure of the chemical 2. Further experimentation showed that
nature of the heredity material—there was still some of the mutants could no longer
ongoing debate as to whether it would prove to produce an essential amino acid (implying Flow chart summary to
be protein or DNA. This is why their discovery that a particular enzyme was no longer introduce Beadle and
was such a major breakthrough. functioning). Tatum’s experiment

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 BLUEPRINT OF LIFE

3. To test that whether this loss of function had A changed hypothesis

a genetic basis, they then crossed these Beadle and Tatum’s ‘one gene—one enzyme’
mutant moulds with the normal moulds and hypothesis changed to the ‘one gene—one
found that some of their offspring shared protein’ hypothesis, once it was demonstrated
the mutant phenotype, proving that the that there are other proteins besides enzymes
inability to produce the amino acid could be that are encoded by genes. After the discovery
inherited—that is, it was due to a genetic by biologists that one gene is not necessarily
defect or mutation. responsible for the structure of an entire
4. With further analysis it was found that protein, but for each polypeptide chain making
different enzymes in different mutants had up that protein, the current one gene—one
been altered or were missing, proving that a polypeptide hypothesis was adopted. This is
gene determines the structure of a specific the currently accepted theory and has stood
enzyme. This led them to propose their first up to rigorous testing, holding true for all
hypothesis: the ‘one gene—one enzyme’ predictions so far.
hypothesis. George Beadle and Edward Tatum’s
discovery won them the Nobel Prize for
Figure 4.2 Diagrams
Physiology or Medicine in 1958.
illustrating Beadle and
Tatum’s experiments
on Neurospora

(a) mould grown in

(a) normal (b) x-rays or (c) grow on
test tubes on
Neurospora ultraviolet complete
minimal medium
(no amino acids light medium
added)
(b) spores irradiated
to induce
mutations
(c) mutated spores
grown on
complete medium
(containing all (d) select one
amino acids of the spores
necessary for
growth)
(d) individual spores
transferred to a i i l
minimal asexual
minimal medium medium spores
and complete
medium
(e) mutant spores
that could not test on
grow on the minimal (e) gro
grow on
minimal medium, medium to complete
compl
but which grew confirm mediu
medium
on the complete presence of
medium, were mutation
identified to
determine which
gene was mutated
(f) mutant spores
transferred to
test tubes that
each contained (f) minimal media
one amino acid supplemented
supplement. with:
Mutants that had
lost the ability to
make a particular
enzyme (e.g. for
the amino acid
arginine) could
grow on the
minimal medium pyridoxine choline nucleic arginine g riboflavin minimal
supplemented with acid control
p-amino inositol f li
folic niacin
i i thiamine
that amino acid
benzoic acid acid
(arginine).

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 DNA FUNCTIONING

Task gene—one polypeptide’ hypothesis. Follow the SR TR

instructions below to do this.
Analyse information from the secondary
sources provided in the investigation (text, Part A
diagrams and table) and use the websites
Complete the summary table provided below
recommended on the Student Resource CD
and on the Student Resource CD to explain Student activity—Beadle
to outline the evidence that led to Beadle and
how the experimental evidence of Beadle and and Tatum’s experiment
Tatum’s ‘one gene—one protein’ hypothesis
Tatum supported their hypotheses.
and to explain why this was altered to the ‘one

Evidence Hypotheses from this

Beadle and Tatum’s reasoning Normal Neurospora grows on a minimal

medium (sugars, salts, vitamins, but no
amino acids added).

Experiment Results/explanations

Beadle and Tatum’s experiment to test ■ Irradiate the spores of the mould with
their hypothesis X-rays or ultraviolet light to cause
mutations
■ Grow the irradiated mould on minimal
medium.

■ Beadle and Tatum proposed the ‘one gene—one enzyme hypothesis’

■ Later changed to: ‘one gene—one polypeptide hypothesis’ for two reasons:

PFA
Part B this reflect the nature and practice of
science?
■ Address the PFA H2 (scaffold table is
provided on the Teacher Resource CD) to 4. Outline how their work has changed H2
outline the work of Beadle and Tatum: scientific thinking.
1. Summarise, in the form of a flow chart, 5. Identify possible future directions of
their experimental work leading to their research based on these findings.
(Hint: In the HSC syllabus, under the Domain: TR
discovery of the one gene—one protein
hypothesis. Knowledge H6 you are required to be able to
2. Explain why their work was considered explain how biochemical processes that occur
a breakthrough and outline how it in cells are related to macroscopic changes in
contributed to the understanding of the the organism. Consider this in answering both
relationship between genes and proteins. questions 3 and 4.) Scaffold PFA H2
3. Explain why their one gene—one protein You may present your findings under and answers to
hypothesis changed to the one gene— headings in the form of a table or as a report. investigation task
one polypeptide hypothesis. How does

Part C ■ List the biologists in the chronological

Student summary—contributions to genetics order of their contribution (see the timeline
on page xiii–xiv) and summarise their SR TR
by biologists studied in the module ‘Blueprint of
life’. findings under headings (see the suggested
■ Create a table to summarise the headings below and the table provided
contributions made by the people you have on the Student Resource CD). Suggested
studied in the module ‘Blueprint of life’. headings: Date, Name(s), Contribution
(theory/law/hypothesis), Brief description of Table and answers for
research. ‘Blueprint of life’ activity

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 BLUEPRINT OF LIFE

4.1 TR
DNA functioning—replication and protein synthesis
The discovery of the biochemical detail
of the structure of DNA by Watson
and Crick in 1953 (12 years after
the phenotype of living organisms.
The active functioning of DNA in the
everyday activities of cells takes two
Beadle and Tatum’s work) brought forms:
about a better understanding of the 1. DNA replication: in its hereditary
biochemical functioning of DNA. role, DNA must be able to make an
Teaching analogy— Besides storing and transmitting all exact copy of itself so that when a
DNA and computer the heredity information in every cell divides, the resulting daughter
software cell of an individual, DNA plays an cells each have a full complement
active role in gene expression, central of DNA.
to cell functioning and determining 2. protein synthesis: genes are
expressed in terms of the protein
products that they produce. Many
of these proteins are enzymes,
unwinds chromosome which control chemical functioning
of cells. Other proteins produced
may form a structural part of
the cell (e.g. the protein in cell
codes for gene
membranes, pigment in skin and
eyes, and silk in insect cocoons)
and some proteins form essential
chemicals such as hormones (e.g.
insulin), defence proteins (e.g.
antibodies) and transport proteins
determines protein (e.g. haemoglobin); DNA directs the
production of these proteins.

trait

Figure 4.3 Flow

chart showing gene
expression DNA replication
■ describe the process of DNA replication and explain its
significance
DNA replication is the production exact copy of the coded instructions
of two identical double stranded that control the basic life functions of
molecules of DNA from one original the cell.
double helix molecule. The process of When Watson and Crick discovered
DNA replication in cells is termed semi- the structure of DNA, they noted
conservative, as the two strands of the immediately that their model suggested
original DNA molecule separate and a possible copying mechanism for
each gives rise to a new complementary the genetic material—if the strands
strand. This mechanism ensures that separated, each could act as a
the genetic material is copied exactly. template for the synthesis of a new,
DNA replicates before cell division so complementary strand and this is
that each cell can receive one full and indeed what happens.

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 DNA FUNCTIONING

The process of DNA replication single strand and goes towards the SR
The process of DNA replication occurs replication fork. (See Fig. 4.5)
in three steps: —The base pairing is checked
1. The DNA double helix unwinds. by another DNA polymerase
Each DNA molecule is a double- enzyme which ‘edits’ any Studentt worksheet
k h t on
stranded helix. An enzyme called incorrect additions, to ensure DNA replication
helicase causes the DNA helix to accuracy. Incorrect base pairing
progressively unwind (see Fig. 4.4a). will result in a change in the
2. DNA unzips—that is, the two strands DNA base sequence, known as
separate.
a mutation.
The weak hydrogen bonds break
between the complementary bases Result of DNA replication
of the nucleotides on opposite Each resulting DNA molecule contains
strands and the two DNA strands
one strand of the existing DNA
separate, exposing the nucleotide
molecule and a newly-synthesised
bases (see Fig. 4.4b). If you think
of DNA as a ‘ladder’, each ‘rung’ strand. The replicated DNA
splits down the middle, creating molecules rewind into the double
a replication fork—beyond this helix conformation, like the original
point, the DNA resembles a flat molecule. The end result is that there
‘ladder’ where the sides are made are two molecules of DNA, each a
up of a sugar–phosphate backbone double-stranded helix, and they are
and the ‘rungs’ are formed by identical to each other and to the
complementary base pairs. original molecule from which they
3. Nucleotides are added to each single formed (see Fig. 4.4c).
strand:
—Each separate strand of the
existing DNA molecule acts as a
template for the production of a
new strand of DNA. Nucleotides
 www.wiley.com/legacy/college/
boyer/0470003790/animations/
replication/replication.htm
Website with animations and multiple-choice
questions.
(units made of sugar—
phosphate—base) are picked up
by the enzyme DNA polymerase
and slotted in opposite their
complementary base partner on
each of the existing strands.
 www.nobelprize.org/educational_
games/medicine/dna_double_
helix/dnahelix.html
Website with a DNA replication game.
These nucleotides are picked up
from a pool of nucleotides in the The significance of DNA replication
nuclear sap.
DNA has two main functions:
—Nucleotide pairing is specific.
1. heredity—this relies on DNA
Adenine (A) always pairs with
thymine (T) nucleotides. replication
Guanine (G) always pairs with 2. gene expression—this relies on
cytosine (C) nucleotides. protein synthesis.
—The direction in which nucleotide
Heredity and the need for replication
insertion occurs is antiparallel on
the two opposite strands—on one The genetic material of a cell must be
strand it begins at the replication transmitted from:
fork and goes towards the end of ■ one cell to another during mitosis,
the strand, whereas on the other allowing for growth and repair and
strand it begins at the end of the maintenance of an organism

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 BLUEPRINT OF LIFE

Figure 4.4 DNA replication—simplified diagrammatic sequence

P P P P P P

S G C S S G C S S G C S
hydrogen weak
P P bond P P P P hydrogen
bonds break
S S C G S S C G S
catalysed catalysed
P C G P by the P P P P by the enzyme
enzyme S T A S S T A S DNA
S S
helicase polymerase
P T A P P P P P
(a) (b)
S S S C G S S C G S
C G P P P P
P P
S S T A S S T A S

P T A P P P P P

S S S G C S S G C S
P P P P S
P C G P G

P
S
free P

C
nucleotides

A S S

G
P A

S
P

P
(a) The DNA double helix unwinds (b) DNA unzips and the two strands separate

P P P P P P P P
S G C S S G C S G C G C
S S S S
hydrogen
P P P P bonds P P P P
S C G S S C G S reform S S
P P P P P P P P
G C G C
S T A S S T A S S S S S
P P P P A T A T
P P P P
(d)
S C G S S C G S S G C S S G C S
P P P P P P
P P
S T A S S T A S S S
P P P P P P P P
T A T A
S G C S S G C S S S S S
P P P P P G C
P P G C
P

original newly original

strand synthesised strand
strands

(c) Nucleotides are added alongside both strands, (d) The resulting DNA molecules each contain half
opposite their complementary bases, to create a of the original DNA molecule and a newly-
new strand along each original strand synthesised strand

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 DNA FUNCTIONING

■ one generation to another during Figure 4.5 DNA

complementary original replication showing
meiosis (e.g. when gametes are chains of DNA DNA helix replication fork
formed for sexual reproduction).
In each of these situations, it is
necessary for the DNA to make an
exact copy of itself—that is, DNA replication
replication occurs. (See the additional fork
information on the Student Resource pool of
CD.) Replication of DNA ensures that nucleotides

the genetic code of a cell is passed

on to each new daughter cell that building
units
arises from it. An exact replica or DNA
T A T A
G C G C
DNA SR
copy of the DNA must be produced polymerase polymerase
so that the new cells have the same,
distinctive message that the original
cell had.
If DNA replication goes wrong, this template
Additionall iinformation
f ti
has a direct effect on the phenotype on DNA replication and
of the individual (see the text on protein synthesis
new
mutations that follows). chain
TR

original
complementary
strands
Extension activities

Protein synthesis—making protein from a DNA

message
■ explain the relationship between proteins and
4.2
polypeptides
Proteins and polypeptides polypeptides can be twisted together
into a particular shape, resulting in
Proteins are large, complex
macromolecules made up of one or the overall structure of a protein. The
more long chains called polypeptides. sequence and arrangement of amino
Each polypeptide chain consists of acids determines the configuration of
a linear sequence of many amino the protein. Any change in the amino
acids joined by peptide bonds. (There acid sequence that results in a change
are about 20 different amino acids in the shape of the protein molecule
and these can be linked together in could affect the ability of the protein
chains of up to 300.) One or more to carry out its function in the cell.

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 BLUEPRINT OF LIFE

4.3 The signifi

■
sig cance of protein synthesis
outline, using a simple model, the process by which DNA
controls the production of polypeptides
Note: This dot point relates to Domain: carried by the mRNA into a cell product
Knowledg
Knowledge H6. such as protein.
Multicellular organisms are made The sequence of information
up of a variety of different cells; transfer necessary for DNA to direct the
e.g. humans have over 200 different production of proteins is summarised
types of cells, including skin cells, below, in a framework known in
muscle cells, blood cells and many genetics as the central dogma:
others. Despite differing in structure, DNA → RNA → protein
every cell that has a nucleus has a
full copy of the same coded genetic The chemicals involved in protein
information in its DNA. This encoded synthesis
information directs the production of DNA
cell products such as polypeptides DNA consists of long chains of
which form proteins, the key to cell nucleotides wound into a double
specialisation and differentiation. In helix. The sequence of nucleotide
specialised cells, coded instructions for bases determines the meaning of the
the production of a particular protein message—because it codes for the
(or group of proteins) are ‘switched sequence of RNA nucleotides and
on’. This ensures that the cell develops ultimately the sequence of amino acids
a particular structure, in keeping with that form the polypeptide chain.
the type of tissue to which it belongs.
For example in skin tissue, genes for RNA
the pigment protein melanin and for Like DNA, RNA is a nucleic acid made
the protein keratin will be switched from a chain of nucleotides, but it
on in each cell, ensuring that the cells differs from DNA in the following ways:
become skin cells. ■ Most RNA is single-stranded.
■ The sugar in RNA is ribose sugar
The process of protein (not deoxyribose sugar as in DNA).
synthesis ■ RNA has the nitrogenous base uracil
(U ) instead of thymine (T).
Outline
There are three types of RNA:
DNA never leaves the nucleus—it holds messenger RNA (mRNA), transfer RNA
the original copy of all instructions. (tRNA) and ribosomal RNA (rRNA):
In order for a cell to make proteins, ■ mRNA is single-stranded and is not
only the relevant instructions for those twisted into a helix. mRNA molecules
proteins are accessed in the DNA are a few thousand bases long, much
nucleotide sequence. Since the DNA shorter than DNA. They are found
instructions must remain in the nucleus, in both the nucleus and cytoplasm.
an intermediate molecule—messenger They function as an intermediate
RNA (mRNA)—is created; this carries molecule, carrying information from
a transcribed copy of the relevant DNA in the nucleus to the ribosomes
instructions from the nucleus to the in the cytoplasm.
ribosomes in the cytoplasm. The ■ tRNA molecules occur in the
ribosomes can be considered as the cytoplasm. Each one is 75
‘machinery’ that translates the message nucleotides long and twisted into

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 DNA FUNCTIONING

the shape of a clover leaf (see amino acid will be carried by that TR
Fig. 4.7). On one end of the tRNA tRNA.
there are three unpaired bases called ■ rRNA forms a structural part of the
an anticodon, which attach the ribosomes.
tRNA to its complementary bases (Using a ‘computer’ analogy, the DNA
Teaching strategy—
on the mRNA strand. The other end could be considered as equivalent to the
examples of modelling
of the tRNA is able to bind with an software, the mRNA is an intermediate protein synthesis
amino acid temporarily. Each tRNA made using a software program (e.g. a
molecule will only attach to one graph or Word document or diagram)
particular amino acid. The specific and the protein would be the hard copy,
sequence of three bases at the printed out. (See Teacher’s Resource CD Figure 4.6 The
anticodon end determines which teaching strategy.) central dogma of
genetics

DNA
replication

DNA duplicates

DNA polymerase

DNA

RNA polymerase

transcription

RNA synthesis

RNA
mRNA

nucleus

information
cytoplasm
nuclear
envelope

translation

protein synthesis
protein
ribosome

protein

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 BLUEPRINT OF LIFE

Detail: The steps involved in protein molecules by temporarily pairing the

synthesis bases of the tRNA anticodons with
(See Fig. 4.7: the numbers of the steps their complementary triplets of bases
in the description below match the (codons) on the mRNA.
sequence of steps numbered in the 5. The amino acids are linked together
diagram.) by another enzyme to form a
1. An enzyme, RNA polymerase, polypeptide chain. The amino
binds to a part of the DNA called the acids are then spliced off their tRNA
promoter and the DNA ‘unzips’— carriers.
that is, the DNA unspirals, hydrogen 6. The tRNAs move away from the
bonds between the two strands mRNA, leaving the growing chain of
break, and the strands separate over amino acids and move back into the
a short length, just in that part of the cytoplasm where they can pick up
DNA that holds the gene to be used. another amino acid and be reused.
Only one strand of DNA contains 7. The polypeptide chain may be
the genetic information to make a joined by one or more other
protein; rather confusingly, it is called polypeptides; they are further
the non-coding strand or sense processed and folded into their
strand; the other strand is called the correct shape, forming a protein.
coding strand or anti-sense strand.
8. The mRNA is broken down into its
2. Transcription of the gene occurs,
individual nucleotides which can be
controlled by the enzyme RNA
reused.
polymerase: the sense strand of
the DNA acts as a template and Defining a gene
RNA nucleotides are assembled,
A gene was at first defined as a
forming a complementary single-
sequence of nucleotides that codes
stranded mRNA molecule (that is,
for one protein. Advances in
DNA is transcribed into mRNA). The
understanding of the biochemical
sequence of nucleotide bases on the
functioning of cells led to the definition
mRNA molecule is the same as the
DNA coding strand, except that it changing to a sequence of nucleotides
has U instead of T. that codes for one polypeptide chain.
3. The mRNA moves out of the More recent research has shown that
nucleus and into the cytoplasm, some genes code mRNA and tRNA,
where it encounters some of the which are not proteins at all, and that in
millions of ribosomes in the cell. (In other instances one gene may code for
eucaryotes, ‘editing’ of the mRNA more than one polypeptide sequence
may take place at this point. See the (due to the splicing and rearrangement
further information on the Student of blocks of mRNA before translation).
Resource CD.) Therefore the definition of a gene may
4. Translation: the ribosomes move need to change to a more functional
along the mRNA molecule and, concept: a sequence of nucleotides that
as they do so, they attach tRNA codes for any molecular cell product.

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 DNA FUNCTIONING

cell nucleus

#
'
'
#
4
! 2 transcription

antisense strand
(coding strand)
C

' of DNA
'

#
4

‘sense’ strand ! !
or ‘non-coding’ 4 mRNA being
ˆ 4 ! transcribed from DNA
strand of DNA 5
! ˆ # (the nucleotide U is
!
4 ˆ 4 used in mRNA in the
#
ˆ ! place of T)
' 5
1 RNA ˆ #
polymerase ! !
ˆ !
4 #
ˆ 4
' !
4 ˆ ' nuclear membrane
G 5
A ˆ !
C ! '
# ˆ
U !
RNA 4 ˆ
5
nucleotide #ˆ 4 translation
pool
mRNA leaves through
3 nuclear pore
ˆ
ˆ
ˆ
ˆ
ˆ
ˆ

U C
ˆ
ˆ

ˆ
ˆ

ˆ
ˆ

U A C U A C A U G A 5

UA G

7 mRNA
6 UA C enters the
peptide
bond A U G U C ribosome
U A C U A C A U G A
amino acid
tRNA

tRNA moves into ribosome

cytoplasm to ‘start’ triplet 8
pick up a new AUG or codon
amino acid A A G
# anticodon
pool of amino acids !
5
# 5
'

RNA nucleotides

Key DNA RNA amino acids tRNA

Figure 4.7 The biochemical process of protein synthesis in a cell

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 BLUEPRINT OF LIFE

Developing a model of protein synthesis

FIRST-HAND
F IRS AND
SECONDARY
S EC SOURCE ■ perform a first-hand investigation or process
IINVESTIGATION
NVE information from secondary sources to develop a simple
PFA
model for polypeptide synthesis
H2 There are a number of ways in which a model ■ what materials you will use to depict
of protein synthesis can be developed: which structures in the process
BIOLOGY SKILLS
1. class activity: video and group model ■ how you will make the necessary
H11.1 creation structures out of the materials provided
2. role play: a model where students can role ■ how the parts will be assembled on the
H12.1; H12.2; H12.3;
play the processes of transcription and butcher’s paper to create your working
H12.4
translation also see the YouTube video clips model
H13.1 on protein synthesis and other relevant ■ who will make which structures
websites ■ any colour coding that may make the
H14.1; H14.2; H14.3
3. assessment task: model and oral model easier to understand
presentation ■ the minimum number of nucleotide
4. computer-generated model (see the Teacher’s sequences that you need to use so that
SR Resource CD PowerPoint of student model). the polypeptide chain that your model
makes contains at least four amino
Task acids.
Students gather and process information from 2. Remember to include the following in your
several sources to gain an understanding of the model:
Investigation
ti ti process of protein synthesis, following which ■ both the nucleus (or part of a nucleus)
information and they develop their own simple model to explain where transcription occurs and the
recommended the sequence of steps involved in the process. cytoplasm where translation occurs
websites ■ the four different nucleotide bases
Part A: Secondary-source present in your DNA and RNA strands
information/stimulus material ■ ribsosomes, tRNA and amino acids.
3. Labels, arrows and/or numbers are useful to
1. Watch the video Cell biology or another
indicate the sequence of events.
suitable video showing an animated version
of protein synthesis (see weblink below).
Part C: Presenting the model
2. Review the link: http://highered.mcgraw-
SR TR hill.com/olc/dl/120077/micro06.swf which Use the model to give a short oral explanation
features a very good step-by-step outline (as a group) of the process of protein synthesis
of the process. to your classmates. Be aware of the limitations
3. Refer to websites (see Student Resource of your model—these will be assessed by the
CD) to view graphics. class at the end of each presentation.
Student worksheet and You may be asked to explain any of the
answers—the process Part B: Producing a model following concepts, using your model:
of protein synthesis Working in pairs or groups of four, use the 1. Outline how a change in DNA sequence can
materials provided to build a working model result in changes in proteins produced and
Figure 4.8 Presenting
demonstrating protein synthesis. therefore changes in cellular activity.
a model of protein 2. Explain how mutations in DNA may lead to
1. Decide as a group:
synthesis the production of a non-functional protein.
3. Explain why the ‘one gene—one protein’
hypothesis was altered to the ‘one gene—
one polypeptide’ hypothesis.

Part D: Report
Write up a report on the model you and your
group presented:
1. Outline the purpose of developing this
model.
2. List the materials.
3. Justify the validity of your model.
4. Discuss any limitations of your model.
5. Provide a bibliography of all references.

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 DNA FUNCTIONING

DNA functioning gone wrong—mutations

Types of mutations
A mutation is a change in the genetic
give rise to gametes (germ-line cells)
and these mutations are heritable—
4.4
that is, they can be transmitted to
material of a cell—that is, a change
future generations, e.g. diseases such
in the sequence of nucleotides of
as cystic fibrosis (gene mutation)
DNA. All mutations do not arise in
or Down Syndrome (chromosome
the same manner—some mutations
mutation).
arise spontaneously whereas others
3. the origin of the mutation:
are induced. Mutations differ in their
spontaneous mutations arise
effect—some mutations may produce
randomly as a result of an error
no phenotypic change, whereas others
in a natural process such as DNA
produce little phenotypic effect or
replication in cells, whereas
significant effect. Mutations that are
induced mutations arise as a result
heritable (can be passed on to future
of an environmental agent such as a
generations) are the direct source of
chemical or radiation that increases
all new alleles.
the chances of changes to nucleotide
Mutation is a collective term for
sequences.
change in the DNA, but the different
types of mutation can be distinguished Mutagens
according to three things:
1. the amount of genetic material Environmental agents that cause
changed: while most mutations mutations are termed mutagens and
affect only a single gene (gene research has shown that exposure to
mutations), there are some these substances over a long period
mutations that move whole of time increases their harmful effects
blocks of genes to other parts (more so than simply giving a larger
of a chromosome or to another dose). The process of inducing a
chromosome entirely. These are mutation is termed mutagenesis. There
called chromosome mutations. are many mutagens known, including:
2. the effect of mutation on phenotype: ■ chemical mutagens:
mutations that do change the —ingested chemicals: alcohol; tar
phenotype of an individual may be in tobacco smoke; chemicals in
harmful, beneficial or neutral in diet—especially charred and fatty
their effect on the individual and its foods and food additives and
survival. The phenotypic difference preservatives (e.g. nitrites)
that a mutation produces may —irritants and poisons: organic
be present in the individual only solvents such as benzene, cleaning
(somatic), or may be transmitted products; asbestos, coal tars;
to future generations (gametic). pesticides; hair dyes, certain
Changes in DNA sequences that may medications
occur in somatic body cells are called ■ biological mutagens: some viruses
somatic mutations and can only be and micro-organisms (e.g. hepatitis
passed on to daughter cells within an B virus, HIV, Epstein-Barr virus)
individual, when the cells carrying directly influence the genetic material
the mutation divide by mitosis, e.g. in cells, changing the functioning of
mutations leading to skin cancer in genes and triggering cancers
a person. Gametic mutations are ■ mutagenic radiation:
those where the mutation occurs in —ionising radiation: radioactive
the sexual reproductive cells which materials from nuclear reactions

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 BLUEPRINT OF LIFE

such as radiation from atomic present in products or to which people

bombs, toxic spills (e.g. that at may be exposed. Some chemicals
Chernobyl), radiation used in are totally banned and others may be
medicine (e.g. X-rays, gamma added in very small amounts. Radiation
radiation) doses are also regulated. (The old-
—ultraviolet (UV) radiation: sunlight fashioned idea of consuming things ‘in
(and also the UV lights in tanning moderation, not in excess’ may have
salons). its merits, since it is the frequency and
Today there are strict regulations on length of exposure, rather than the
the amounts of mutagens that may be amount in each dose, that is harmful.)

4.5 The mutagenic

■
m
discuss
discu
nature of radiation
uss evidence for the mutagenic nature of radiation
Note: The discussion below is of infertility and genetic mutations,
supplemen
supplemented by evidence on the as well as non-cancerous side effects
Student Resource
Re CD. such as cardiovascular and respiratory
conditions.
During the late 1800s and early The link between exposure to
1900s, many scientists were involved ionising radiation and an increase in
in studying radiation. Since the harmful the occurrence of certain illnesses such
effects of radiation were unknown as leukaemia and other cancers was
then, scientists, such as Marie Curie, identified in the early 1900s, but further
who were exposed to large amounts evidence was needed to accept that
of radiation over prolonged periods of radiation was directly causing these
time developed various illnesses. Marie cancers.
Curie worked with ionising radiation Between 1925 and 1940,
for most of her career and died from experimental research provided
SR leukaemia due to overexposure to evidence of the mutagenic nature of
radioactive emissions. Many years radiation. Advances in cell studies
later survivors of the 1945 bombing of provided further support.
Hiroshima suffered physical mutations More information outlining the story
as a result of radioactive output from of the discovery of the mutagenic nature
Evidence
d ffor th
the
mutagenic nature of the nuclear explosion. More recently, of radiation, as well as the evidence that
radiation and student victims of the nuclear meltdown in was gathered in support, is provided on
activity Chernobyl have suffered high levels the Student Resource CD.

4.6 Mutations may lead to new alleles

Mutat
■ explain how mutations in DNA may lead to the
generation of new alleles
(Note: the text below relates to more genes may be affected. If a gene
Domain: Knowledge H6.) Mutations is altered from its original form the two
alter genes by changing the nucleotide variations of the gene are termed alleles
sequence in DNA. As a result one or of that gene.

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 DNA FUNCTIONING

These changes to the genes may ■ a sequence within a gene may be

result in the production of new duplicated or translocated (moved).
proteins. Most new proteins have little
Chromosomal mutations
effect on the organism, but a few will
lead to genetic disorders and inherited On a molecular level, if whole
diseases (e.g. a changed allele for chromosomes become rearranged
the haemoglobin gene, results in the (deleted, duplicated or translocated
disease sickle cell anaemia; the allele and attached to another), a change
in chromosome number may arise.
for cystic fibrosis affects a protein
This usually occurs as a result of
that regulates ion flow across cell
chromosomes not separating out
membranes, resulting in increased
correctly during meiosis (that is,
water absorption by cells and a build-
non-disjunction). The resulting cells
up of abnormally thick mucus outside may have one chromosome less than
the cells). normal or one extra chromosome.
The effect of a chromosomal
Inheritable mutations pass to mutation could result in disorders such
future generations as Down syndrome, where individuals
Changes to genetic material in somatic have three copies of chromosome
cells are not passed on to offspring— 21. This has numerous phenotypic
the new allele may cause a defect in effects (e.g. slanting eyes; flat back of
an individual, but will not affect future the head; short, broad hands; widely
generations. However, mutations in spaced toes; growth failure; and
germ-line cells (gametic mutations) mental retardation). See the Student
produce alleles that can be inherited Resource CD for syndromes resulting
and may therefore have significant from a change in the number of
effects on populations and so are sex chromosomes. (A syndrome is
a collection of several recognisable
important in evolution.
clinical features that arise together in an
Effects of mutations at the individual as a result of a disorder.)
gene and chromosome level Most gene mutations produce
recessive alleles because they prevent
Changes to genetic material arise during the gene from producing a functional Figure 4.9 A child
replication and they may result in a protein. Because of this, we could with Down syndrome
and her family—her
change to a single gene—termed gene all be carrying large numbers of karyotype would
mutations. Other mutations involve mutations in our genome and be show an extra
the rearrangement of a block of genes completely unaware of them. If the chromosome 21

or whole chromosomes—chromosome
mutations.

Gene mutations
On a molecular level, mutations may
involve:
■ base substitution (point mutation):
one pair of nucleotides (e.g. A-T)
is substituted for another pair
(e.g. G-C).
■ frame shift (macromutation): extra
bases are added to or deleted from a
strand of DNA, changing the whole
sequence of nucleotides

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 BLUEPRINT OF LIFE

changed recessive alleles occur in the phenotypic changes that do not

homozygous form in individuals (or affect the individual adversely or in a
a dominant allele is present in even positive way may accumulate. They
one copy) the mutation can affect may become beneficial or harmful to
the phenotype of the individual. the organism (and affect the overall
This phenotypic change may be survival of a population) if selective
of advantage to the organism (e.g. pressure arises as a result of sudden
pesticide resistance in an insect), or it environmental change (e.g. colouration
may be harmful (e.g. it may cause a in the peppered moth).
disease such as haemophilia). Some

Flow chart to show that changes in DNA activity

result in changes in cell activity
FIRST-HAND
FIRS AND
SECONDARY
S EC SOURCE ■ process information to construct a flow chart that shows
INVESTIGATION that changes in DNA sequences can result in changes in
PFA cell activity
H5
What is a flow chart? pages 204–212) to identify each of the
BIOLOGY SKILLS separate stages that you think are relevant
A flow chart is a simple representation of a and should be represented in your flow
H12.3; H12.4
process that shows a flow of information. It chart. Jot these down as a rough draft.
H13.1 therefore involves presenting information as ■ Consider the order in which these occur
discrete units in a sequence of text boxes or (e.g. start with changes in DNA and end
H14.1; H14.3
diagrams, where each is linked to the next by with the eventual change in cell activity).
an arrow to indicate the direction of flow of Number the rough draft to indicate the
steps in the process. sequence of steps.
Flow charts are useful to demonstrate ■ Present the information as a series of
how various steps in a process work together. text boxes and/or diagrams, connected by
How to construct a flow arrows, to show the sequence and flow of
steps in the process. This may be done
chart by hand or using a computer software
■ Analyse the information from the text (e.g. program (such as Inspiration or ‘flow
on protein synthesis and mutation on charts’ in Microsoft Word).

Task 3. Optional extra: Pairs of students can swap

flow charts. To validate each others’ flow
TR 1. Construct a flow chart as outlined in the dot charts, check to see if the sequence of
point above. steps in your partner’s flow chart can
2. Name and briefly outline, in a paragraph be applied to the example that you have
on a separate sheet of paper, a specific outlined in paragraph form. Any necessary
example of a change in DNA that has led to modifications should be made to the flow
Sample flow chart a change in cell activity. charts.

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 DNA FUNCTIONING

PFA
Change in phenotype reflects changes in DNA structure

Importance of advances in scientific bonding capabilities and therefore

H1
understanding on the direction of the physical shape of the resulting
scientific thinking protein.
Understanding the one gene—one ■ The shape and chemical nature of
polypeptide hypothesis and the more the protein influences the phenotype
recently discovered structure of DNA of the organism.
and its role in protein synthesis brings ■ Mutations alter the specific sequence
us to an understanding of the basics of of nucleotides in the DNA, which
gene expression—that the instructions may affect the phenotype, often in
encoded in DNA are converted into an adverse manner. Therefore it is
the characteristics of an organism (its important to conserve the integrity
phenotype). This can be explained of the nucleotide sequence of DNA.
genetically as follows: ■ Mutations are important to
■ The specific sequence of nucleotide geneticists researching biochemical
pairs in a DNA molecule is pathways in organisms and functions
responsible for the sequence of amino of genes—mutants lacking the ability
acids in the polypeptide chain. to perform a process reveal the
■ The sequence of amino acids in a nucleotide sequence essential to that
polypeptide determines the chemical process.

Darwin revisited
■ explain how an understanding of the source of variation
in organisms has provided support for Darwin’s theory
4.7
of evolution by natural selection
Mutation is the basic source of all results in variation in phenotype. SR TR
variation. Understanding mutagenesis If mutations can be inherited, they
allows us to explain how variations provide the variation on which natural
arise. The understanding that mutations selection acts, for evolution to occur.
affect the base sequence of DNA allows For evolutionary purposes, a mutation
Understanding Conclusion
us to understand how they can be can be redefined as a heritable change
the source and answers
passed from one generation to the next. in the genetic material. of variation to student
It supports Darwin’s theory of evolution Write a concluding paragraph supports activity
because it provides a mechanism to explaining how our understanding of: Darwin-
explain how heritable variation arises. ■ the cause of mutation Wallace’s
■ the biochemical nature of mutation theory
New alleles lead to change in as a source of variation, and
phenotype ■ mitosis, meiosis and sexual
A mutation will result in a change reproduction
in phenotype that may be negligible all provide evidence to support
in its effect, or it may confer some Darwin’s theory of evolution by natural
advantage or disadvantage to the selection.
organism. Mutations therefore provide (See also page 149.)
the diversity of genetic material that

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 BLUEPRINT OF LIFE

REVISION QUESTIONS

1. Explain how the biochemical process of protein synthesis that occurs in cells is related to
macroscopic changes in the organism.
2. Distinguish between DNA and mRNA.
3. Match the phrase in the first column with the correct term in the second column in the table
below.

1 DNA makes an identical copy of itself. (a) translation

2 DNA acts as a template for mRNA. (b) replication
3 mRNA triplet of bases that determines which amino acid will be brought in. (c) transcription
4 Carries DNA code from cytoplasm to nucleus. (d) mutation
5 Where transcription takes place. (e) mitochondrion
6 Triplet of bases on one end of tRNA. (f) ribosome
7 Material of which genes are made. (g) codon
8 Contains non-nuclear DNA. (h) anticodon
9 Change in nucleotide sequence in a gene. (i) DNA
10 mRNA is decoded and directs the sequencing of amino acids to make a (j) mRNA
polypeptide chain.

4. Draw
Draw a flflo
4. Dra ow chart
artt to outline
char
ch outline the
tline the process
p
pro
roce ss by
cess b which
whic
hichh DNA
DNA controls
cont
contro ls the
rols the production
pro
prodduct
ctio n of polypeptides.
ion pol
p olypep
peptitide
dess.
Indicate at which points enzymes are involved and name these enzymes.
5. In the form of a table, compare the processes of DNA replication and protein synthesis.
6. (a) Define a mutagen and give examples.
(b) Distinguish between spontaneous and induced mutations and give an example of each.
7. Compare gene mutations with chromosome mutations, giving an example of each.
8. The following scientists all made major scientific breakthroughs that are accepted in the fields of
genetics and evolution today:
SR TR (a) Darwin and Wallace
(b) Mendel
(c) Beadle and Tatum.
(i) For each scientist or pair of scientists listed above, identify the scientific hypothesis,
theory or law that they proposed.
Answers to revision (ii) For each scientist or pair of scientists, analyse and outline the way in which they tested
questions and validated their hypothesis, theory or law.

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