Head to savemyexams.co.

uk for more awesome resources

YOUR NOTES
AS Biology CIE 

6. Nucleic Acids & Protein Synthesis

CONTENTS
6.1 Structure of Nucleic Acids & Replication of DNA
6.1.1 Nucleotides
6.1.2 The Structure of DNA
6.1.3 Semi-Conservative DNA Replication
6.1.4 The Structure of RNA
6.2 Protein Synthesis
6.2.1 From Gene to Polypeptide
6.2.2 The Universal Genetic Code
6.2.3 Constructing Polypeptides
6.2.4 Transcription
6.2.5 Gene Mutations

Page 1 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

6.1 Structure of Nucleic Acids & Replication of DNA YOUR NOTES


6.1.1 Nucleotides

Nucleotide Structure
Nucleic acids such as DNA (deoxyribonucleic acid) and RNA (ribonucleic acid) are
macromolecules (giant molecules)
Like proteins (polypeptides) and carbohydrates (polysaccharides), these nucleic acids are
polymers (‘poly’ meaning ‘many’)
This means they are made up of many similar, smaller molecules (known as subunits or
monomers) joined into a long chain
The subunits that make up DNA and RNA are known as nucleotides
Therefore DNA and RNA can also be known as polynucleotides
Nucleotides
Nucleotides are made up of three components:
A nitrogen-containing base (also known as a nitrogenous base)
A pentose sugar (containing 5 carbon atoms)
A phosphate group

The basic structure of a nucleotide

Nucleotide structure table

Page 2 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


The nucleotides found in DNA and RNA

ATP
Page 3 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

Adenosine triphosphate (ATP) is the energy-carrying molecule that provides the energy to YOUR NOTES
drive many processes inside living cells 
ATP is another type of nucleic acid and hence it is structurally very similar to the
nucleotides that make up DNA and RNA
It is a phosphorylated nucleotide
Adenosine (a nucleoside) can be combined with one, two or three phosphate groups
One phosphate group = adenosine monophosphate (AMP)
Two phosphate groups = adenosine diphosphate (ADP)
Three phosphate groups = adenosine triphosphate (ATP)

The structure of AMP, ADP and ATP

 Exam Tip
Don’t worry – you are not expected to know the structural formulae for the
nucleotides that make up DNA and RNA or AMP, ADP and ATP (as in the diagram
above)! You just need to learn the different groups that they are made up of
(phosphate groups, pentose sugars and nitrogenous bases).Remember that
adenine is a nitrogenous base whereas adenosine is a nucleoside (a base –
adenine, attached to a pentose sugar).

Page 4 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

Purines & Pyrimidines YOUR NOTES

The nitrogenous base molecules that are found in the nucleotides of DNA (A, T, C, G) and 
RNA (A, U, C, G) occur in two structural forms: purines and pyrimidines
The bases adenine and guanine are purines – they have a double ring structure
The bases cytosine, thymine and uracil are pyrimidines – they have a single ring structure

Page 5 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


Page 6 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


The molecular structures of purines and pyrimidines are slightly different

 Exam Tip
You don’t need to know the structural formulae of these bases, just which are
purines and which are pyrimidines.

Page 7 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

6.1.2 The Structure of DNA YOUR NOTES


DNA Structure
The nucleic acid DNA is a polynucleotide – it is made up of many nucleotides bonded
together in a long chain

A DNA nucleotide
DNA molecules are made up of two polynucleotide strands lying side by side, running in
opposite directions – the strands are said to be antiparallel
Each DNA polynucleotide strand is made up of alternating deoxyribose sugars and
phosphate groups bonded together to form the sugar-phosphate backbone. These
bonds are covalent bonds known as phosphodiester bonds
The phosphodiester bonds link the 5-carbon of one deoxyribose sugar molecule to
the phosphate group from the same nucleotide, which is itself linked by another
phosphodiester bond to the 3-carbon of the deoxyribose sugar molecule of the
next nucleotide in the strand
Each DNA polynucleotide strand is said to have a 3’ end and a 5’ end (these numbers
relate to which carbon on the pentose sugar could be bonded with another
nucleotide)
As the strands run in opposite directions (they are antiparallel), one is known as the 5’
to 3’ strand and the other is known as the 3’ to 5’ strand
The nitrogenous bases of each nucleotide project out from the backbone towards the
interior of the double-stranded DNA molecule

Page 8 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


A single DNA polynucleotide strand showing the positioning of the ester bonds
Hydrogen bonding
The two antiparallel DNA polynucleotide strands that make up the DNA molecule are held
together by hydrogen bonds between the nitrogenous bases
These hydrogen bonds always occur between the same pairs of bases:
The purine adenine (A) always pairs with the pyrimidine thymine (T) – two hydrogen
bonds are formed between these bases
The purine guanine (G) always pairs with the pyrimidine cytosine (C) – three hydrogen
bonds are formed between these bases
This is known as complementary base pairing
These pairs are known as DNA base pairs

Page 9 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


A section of DNA – two antiparallel DNA polynucleotide strands held together by hydrogen
bonds
Double helix
DNA is not two-dimensional as seen in the diagram above
DNA is described as a double helix
This refers to the three-dimensional shape that DNA molecules form

Page 10 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


DNA molecules form a three-dimensional structure known as a DNA double helix

 Exam Tip
Make sure you can name the different components of a DNA molecule (sugar-
phosphate backbone, nucleotide, complementary base pairs, phosphodiester
bonds, hydrogen bonds) and make sure you are able to locate these on a
diagram.You must know how many hydrogen bonds occur between the different
base pairs.Remember that the bases are complementary so the number of A = T and
C = G, as you could be asked to determine how many bases are present in a DNA
molecule if given the number of one of the bases.

Page 11 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

6.1.3 Semi-Conservative DNA Replication YOUR NOTES


Semi-Conservative DNA Replication
DNA replication occurs in preparation for mitosis, when a parent cell divides to produce
two genetically identical daughter cells – as each daughter cell contains the same number
of chromosomes as the parent cell, the number of DNA molecules in the parent cell must be
doubled before mitosis takes place
DNA replication occurs during the S phase of the cell cycle (which occurs during
interphase, when a cell is not dividing)
The hydrogen bonds between the base pairs on the two antiparallel polynucleotide DNA
strands are broken
This ‘unzips’ or unwinds the DNA double helix to form two single polynucleotide DNA
strands
Each of these single polynucleotide DNA strands acts as a template for the formation of a
new strand – the original strand and the new strand then join together to form a new DNA
molecule
This method of replicating DNA is known as semi-conservative replication because half
of the original DNA molecule is kept (conserved) in each of the two new DNA molecules
Semi-conservative replication was shown to be the method of replication by Meselson
and Stahl in 1958. They used E.coli (a bacteria) and two nitrogen isotopes, a heavy form 15N
and the ‘normal’ form 14N, to demonstrate how the density of DNA changes over
generations as the 15N isotope was replaced with the 14N isotope

Page 12 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


Semi-conservative replication of DNA

DNA Polymerase
In the nucleus, there are free nucleotides to which two extra phosphates have been
added (these free nucleotides with three phosphate groups are known as nucleoside
triphosphates or ‘activated nucleotides’)
The extra phosphates activate the nucleotides, enabling them to take part in DNA
replication
The bases of the free nucleoside triphosphates align with their complementary bases on
each of the template DNA strands

Page 13 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

The enzyme DNA polymerase synthesises new DNA strands from the two template YOUR NOTES
strands 
It does this by catalysing condensation reactions between the deoxyribose sugar and
phosphate groups of adjacent nucleotides within the new strands, creating the sugar-
phosphate backbone of the new DNA strands
DNA polymerase cleaves (breaks off) the two extra phosphates and uses the energy
released to create the phosphodiester bonds (between adjacent nucleotides)
Hydrogen bonds then form between the complementary base pairs of the template and
new DNA strands

Page 14 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


Page 15 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


Nucleotides are bonded together by DNA polymerase to create the new complementary
DNA strands
Leading & lagging strands
DNA polymerase can only build the new strand in one direction (5’ to 3’ direction)
As DNA is ‘unzipped’ from the 3’ towards the 5’ end, DNA polymerase will attach to the 3’
end of the original strand and move towards the replication fork (the point at which the
DNA molecule is splitting into two template strands)
This means the DNA polymerase enzyme can synthesise the leading strand continuously
This template strand that the DNA polymerase attaches to is known as the leading strand
The other template strand created during DNA replication is known as the lagging strand
On this strand, DNA polymerase moves away from the replication fork (from the 5’ end to
the 3’ end)
This means the DNA polymerase enzyme can only synthesise the lagging DNA strand in
short segments (called Okazaki fragments)
A second enzyme known as DNA ligase is needed to join these lagging strand segments
together to form a continuous complementary DNA strand
DNA ligase does this by catalysing the formation of phosphodiester bonds between the
segments to create a continuous sugar-phosphate backbone

Page 16 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


The synthesis of the complementary strands occurs slightly differently on the leading and
lagging template strands of the original DNA molecule that is being replicated

Page 17 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

6.1.4 The Structure of RNA YOUR NOTES


RNA Structure
Like DNA, the nucleic acid RNA (ribonucleic acid) is a polynucleotide – it is made up of
many nucleotides linked together in a long chain
Like DNA, RNA nucleotides contain the nitrogenous bases adenine (A), guanine (G) and
cytosine (C)
Unlike DNA, RNA nucleotides never contain the nitrogenous base thymine (T) – in place of
this they contain the nitrogenous base uracil (U)
Unlike DNA, RNA nucleotides contain the pentose sugar ribose (instead of deoxyribose)

An RNA nucleotide compared with a DNA nucleotide

Page 18 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

Unlike DNA, RNA molecules are only made up of one polynucleotide strand (they are YOUR NOTES
single-stranded) 
Each RNA polynucleotide strand is made up of alternating ribose sugars and phosphate
groups linked together, with the nitrogenous bases of each nucleotide projecting out
sideways from the single-stranded RNA molecule
The sugar-phosphate bonds (between different nucleotides in the same strand) are
covalent bonds known as phosphodiester bonds
These bonds form what is known as the sugar-phosphate backbone of the RNA
polynucleotide strand
The phosphodiester bonds link the 5-carbon of one ribose sugar molecule to the
phosphate group from the same nucleotide, which is itself linked by another
phosphodiester bond to the 3-carbon of the ribose sugar molecule of the next
nucleotide in the strand
An example of an RNA molecule is messenger RNA (mRNA), which is the transcript copy of a
gene that encodes a specific polypeptide. Two other examples are transfer RNA (tRNA)
and ribosomal RNA (rRNA)

Messenger RNA (mRNA) provides a good example of the structure of RNA

Page 19 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

Exam Tip YOUR NOTES

 You need to know the difference between DNA and RNA molecules (bases, number

of strands, pentose sugar present).

Page 20 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

6.2 Protein Synthesis YOUR NOTES


6.2.1 From Gene to Polypeptide

From Gene to Polypeptide

A gene is a sequence of nucleotides that forms part of a DNA molecule (one DNA molecule
contains many genes)
This sequence of nucleotide bases (the gene) codes for the production of a specific
polypeptide (protein)
Protein molecules are made up of a series of amino acids bonded together
The shape and behaviour of a protein molecule depends on the exact sequence of these
amino acids (the initial sequence of amino acids is known as the primary structure of the
protein molecule)
The genes in DNA molecules, therefore, control protein structure (and as a result, protein
function) as they determine the exact sequence in which the amino acids join together
when proteins are synthesised in a cell

A gene is a sequence of nucleotides that codes for the production of a specific protein
molecule (polypeptide)

Page 21 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

Exam Tip YOUR NOTES

 One gene codes for one mRNA molecule, which codes for one polypeptide. This is

known as the central dogma of molecular biology.Remember – each chromosome
in a human cell nucleus contains one very long DNA molecule. This DNA molecule is
made up of thousands of specific nucleotide sequences called genes that code for
specific proteins. Even though these genes are all found within the same DNA
molecule and are therefore all linked up, the cell knows where individual genes start
and stop. This ensures the cell reads the DNA correctly and can produce the correct
protein molecules that it requires to function properly.

Page 22 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

6.2.2 The Universal Genetic Code YOUR NOTES


The Universal Genetic Code
A gene is a sequence of nucleotide bases in a DNA molecule that codes for the
production of a specific sequence of amino acids, that in turn make up a specific
polypeptide (protein)
The DNA nucleotide base code found within a gene is a three-letter, or triplet, code
Each sequence of three bases (in other words each triplet of bases) codes for one amino
acid
These triplets of bases are known as codons (each codon codes for a different amino acid
– there are 20 different amino acids that cells use to make up different proteins)
For example:
CAG codes for the amino acid valine
TTC codes for the amino acid lysine
GAC codes for the amino acid leucine
CCG codes for the amino acid glycine
Some of these triplets of bases code for start (TAC – methionine) and stop signals
These signals tell the cell where individual genes start and stop
This ensures the cell reads the DNA correctly (the code is non-overlapping) and can
produce the correct sequences of amino acids (and therefore the correct protein
molecules) that it requires to function properly
There are four bases so there are 64 different triplets possible (43), yet there are only 20
amino acids that commonly occur in biological proteins. This results in multiple codons
coding for the same amino acids thus the code is said to be degenerate (this can limit the
effect of mutations)
The genetic code is universal, meaning that almost every organism uses the same code
(there are a few rare and minor exceptions)
This means that the same codons code for the same amino acids in all living things
(meaning that genetic information is transferable between species)

Page 23 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


A DNA molecule with the triplet code for the codons of the start amino acid (methionine) and
valine

 Exam Tip
Be careful to determine whether you have been given DNA or mRNA codons.

Page 24 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

6.2.3 Constructing Polypeptides YOUR NOTES


Constructing Polypeptides: Transcription & Translation
A gene is a sequence of nucleotide bases in a DNA molecule that codes for the
production of a specific sequence of amino acids, that in turn make up a specific
polypeptide (protein)
This process of protein synthesis occurs in two stages:
Transcription – DNA is transcribed and an mRNA molecule is produced
Translation – mRNA (messenger RNA) is translated and an amino acid sequence is
produced
Transcription
This stage of protein synthesis occurs in the nucleus of the cell
Part of a DNA molecule unwinds (the hydrogen bonds between the complementary base
pairs break)
This exposes the gene to be transcribed (the gene from which a particular polypeptide will
be produced)
A complimentary copy of the code from the gene is made by building a single-stranded
nucleic acid molecule known as mRNA (messenger RNA)
Free activated RNA nucleotides pair up (via hydrogen bonds) with their complementary
(now exposed) bases on one strand (the template strand) of the ‘unzipped’ DNA molecule
The sugar-phosphate groups of these RNA nucleotides are then bonded together by the
enzyme RNA polymerase to form the sugar-phosphate backbone of the mRNA molecule
When the gene has been transcribed (when the mRNA molecule is complete), the hydrogen
bonds between the mRNA and DNA strands break and the double-stranded DNA
molecule re-forms
The mRNA molecule then leaves the nucleus via a pore in the nuclear envelope

Page 25 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


The transcription stage of protein synthesis – DNA is transcribed and an mRNA molecule is
produced
Translation
This stage of protein synthesis occurs in the cytoplasm of the cell
After leaving the nucleus, the mRNA molecule attaches to a ribosome
In the cytoplasm, there are free molecules of tRNA (transfer RNA)
These tRNA molecules have a triplet of unpaired bases at one end (known as the
anticodon) and a region where a specific amino acid can attach at the other
There are at least 20 different tRNA molecules, each with a specific anticodon and specific
amino acid binding site
The tRNA molecules bind with their specific amino acids (also in the cytoplasm) and bring
them to the mRNA molecule on the ribosome
The triplet of bases (anticodon) on each tRNA molecule pairs with a complementary triplet
(codon) on the mRNA molecule
Two tRNA molecules fit onto the ribosome at any one time, bringing the amino acid they
are each carrying side by side
A peptide bond is then formed between the two amino acids
This process continues until a ‘stop’ codon on the mRNA molecule is reached – this acts as
a signal for translation to stop and at this point the amino acid chain coded for by the mRNA
molecule is complete
This amino acid chain then forms the final polypeptide

Page 26 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


The translation stage of protein synthesis – tRNA molecules bind with their specific amino
acids

Page 27 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


Page 28 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


Page 29 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


The translation stage of protein synthesis – an amino acid chain is formed

 Exam Tip
Make sure you learn both stages of protein synthesis fully. Don’t forget –
transcription occurs in the nucleus but translation occurs in the cytoplasm! Be
careful – DNA polymerase is the enzyme involved in DNA replication; RNA
polymerase is the enzyme involved in transcription – don’t get these confused.

Page 30 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

6.2.4 Transcription YOUR NOTES


Template & Non-Template Strands
In the transcription stage of protein synthesis, the section of the DNA molecule where the
gene is located (the gene coding for a particular polypeptide) unwinds – the hydrogen
bonds between the complementary base pairs break, causing the two DNA strands to
‘unzip’
Free activated RNA nucleotides then pair up with the exposed bases on the DNA molecule
but only with those bases on one strand of the DNA molecule
This strand of the DNA molecule is called the template strand or the transcribed strand
This is the strand that is transcribed to form the mRNA molecule (RNA polymerase bonds
the RNA nucleotides together to create the sugar-phosphate backbone of the mRNA
molecule)
This mRNA molecule will then be translated into an amino acid chain
The strand of the DNA molecule that is not transcribed is called the non-template strand or
the non-transcribed strand

The template strand of the DNA molecule is the one that is transcribed

Page 31 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

Exam Tip YOUR NOTES

 Note the use of sense and anti-sense strands in transcription has been replaced

with non-transcribed and transcribed (or template) strands respectively.The mRNA
codons have the same base sequence as the non-transcribed strand, and the tRNA
anticodons have the same base sequence as the transcribed strand except RNA,
which has the base Uracil, replacing Thymine.

Page 32 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

Post-Transcriptional Modification YOUR NOTES

Within eukaryotic genes, there are both coding and non-coding sequences of DNA 
The coding sequences are called exons and these are the sequences that will
eventually be translated into the amino acids that will form the final polypeptide
The non-coding sequences are called introns and are not translated (they do not
code for any amino acids)
When transcription of a gene occurs, both the exons and introns are transcribed
This means the RNA molecule formed (known as the primary transcript) also contains
exons and introns
As the introns are not to be translated, they must be removed from the RNA molecule
The exons are then all fused together to form a continuous RNA molecule called mature
mRNA that is ready to be translated
This process is sometimes called ‘splicing’ and is part of the process of post-
transcriptional modification (referring to the modification of the RNA molecule after
transcription but before translation occurs)

Page 33 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

YOUR NOTES


The RNA molecule produced from transcription of a gene contains introns that must be
removed before translation can occur

Page 34 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

6.2.5 Gene Mutations YOUR NOTES


Gene Mutations & Their Effect on Polypeptides
A gene mutation is a change in the sequence of base pairs in a DNA molecule that may
result in an altered polypeptide
Mutations occur continuously
As the DNA base sequence determines the sequence of amino acids that make up a
protein, mutations in a gene can sometimes lead to a change in the polypeptide that the
gene codes for
Most mutations do not alter the polypeptide or only alter it slightly so that its structure or
function is not changed (as the genetic code is degenerate)
There are different ways that a mutation in the DNA base sequence can occur:
Insertion of nucleotides
A mutation that occurs when a nucleotide (with a new base) is randomly inserted into the
DNA sequence is known as an insertion mutation
An insertion mutation changes the amino acid that would have been coded for by the
original base triplet, as it creates a new, different triplet of bases
Remember – every group of three bases in a DNA sequence codes for an amino acid
An insertion mutation also has a knock-on effect by changing the triplets (groups of three
bases) further on in the DNA sequence
This is sometimes known as a frameshift mutation
This may dramatically change the amino acid sequence produced from this gene and
therefore the ability of the polypeptide to function

An example of an insertion mutation

Deletion of nucleotides
A mutation that occurs when a nucleotide (and therefore its base) is randomly deleted
from the DNA sequence

Page 35 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

Like an insertion mutation, a deletion mutation changes the amino acid that would have YOUR NOTES
been coded for 
Like an insertion mutation, a deletion mutation also has a knock-on effect by changing the
groups of three bases further on in the DNA sequence
This is sometimes known as a frameshift mutation
This may dramatically change the amino acid sequence produced from this gene and
therefore the ability of the polypeptide to function
Substitution of nucleotides
A mutation that occurs when a base in the DNA sequence is randomly swapped for a
different base
Unlike an insertion or deletion mutation, a substitution mutation will only change the amino
acid for the triplet (a group of three bases) in which the mutation occurs; it will not have a
knock-on effect
Substitution mutations can take three forms:
Silent mutations – the mutation does not alter the amino acid sequence of the
polypeptide (this is because certain codons may code for the same amino acid as the
genetic code is degenerate)
Missense mutations – the mutation alters a single amino acid in the polypeptide
chain (sickle cell anaemia is an example of a disease caused by a single substitution
mutation changing a single amino acid in the sequence)
Nonsense mutations – the mutation creates a premature stop codon (signal for the
cell to stop translation of the mRNA molecule into an amino acid sequence), causing
the polypeptide chain produced to be incomplete and therefore affecting the final
protein structure and function (cystic fibrosis is an example of a disease caused by a
nonsense mutation, although this is not always the only cause)

An example of a substitution mutation

The effect of gene mutations on polypeptides
Most mutations do not alter the polypeptide or only alter it slightly so that its appearance
or function is not changed

Page 36 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers
 Head to savemyexams.co.uk for more awesome resources

However, a small number of mutations code for a significantly altered polypeptide with YOUR NOTES
a different shape 
This may affect the ability of the protein to perform its function. For example:
If the shape of the active site on an enzyme changes, the substrate may no longer be
able to bind to the active site
A structural protein (like collagen) may lose its strength if its shape changes

 Exam Tip
A silent mutation is a change in the nucleotide sequence that results in the same
amino acid sequence.This is possible because some amino acids can be coded for
by up to four different triplet codon sequences.Silent mutations are often a change
in the 2nd or 3rd base in the codon, rather than the first.For example, valine is coded
for by four different triplet codon sequences (GUU, GUC, GUA and GUG) – therefore,
as long as the first two nucleotides in the codon are guanine and uracil valine will be
inserted into the polypeptide.

Page 37 of 37

© 2015-2023 Save My Exams, Ltd. · Revision Notes, Topic Questions, Past Papers