Protein Synthesis and

Inheritance Booklet
UNIT 9 REPRODUCTION LEARNING OUTCOMES

Learning Outcomes
3.14 understand that the genome is the entire DNA of an organism and that a gene is
☺ 😐☹
a section of a molecule of DNA that codes for a specific protein
3.15 understand that the nucleus of a cell contains chromosomes on which genes are
located
3.16B describe a DNA molecule as two strands coiled to form a double helix, the
strands being linked by a series of paired bases: adenine (A) with thymine
(T), and cytosine (C) with guanine (G)
3.17B understand that an RNA molecule is single stranded and contains uracil (U)
instead of thymine (T)
3.18B describe the stages of protein synthesis including transcription and
translation, including the role of mRNA, ribosomes, tRNA, codons and anticodons
3.19 understand how genes exist in alternative forms called alleles which give rise to
differences in inherited characteristics
3.20 understand the meaning of the terms: dominant, recessive, homozygous,
heterozygous, phenotype, and genotype
3.21B understand the meaning of the term codominance
3.22 understand that most phenotypic features are the result of polygenic inheritance
rather than single genes
3.23 describe patterns of monohybrid inheritance using a genetic diagram
3.24 understand how to interpret family pedigrees
3.25 predict probabilities of outcomes from monohybrid crosses
3.26 understand how the sex of a person is controlled by one pair of chromosomes, XX
in a female and XY in a male
3.27 describe the determination of the sex of offspring at fertilisation, using a genetic
diagram
3.28 understand how division of a diploid cell by mitosis produces two cells that
contain identical sets of chromosomes
3.29 understand that mitosis occurs during growth, repair, cloning and asexual
reproduction
3.30 understand how division of a cell by meiosis produces four cells, each with half
the number of chromosomes, and that this results in the formation of genetically
different haploid gametes
3.31 understand how random fertilisation produces genetic variation of offspring
3.32 know that in human cells the diploid number of chromosomes is 46 and the
haploid number is 23
3.33 understand that variation within a species can be genetic, environmental, or a
combination of both
3.34 understand that mutation is a rare, random change in genetic material that can
be inherited
 3.35B understand how a change in DNA can affect the phenotype by altering the
sequence of amino acids in a protein
3.36B understand how most genetic mutations have no effect on the phenotype,
some have a small effect and rarely do they have a significant effect
3.37B understand that the incidence of mutations can be increased by exposure to
ionising radiation (for example, gamma rays, x-rays and ultraviolet rays)
and some chemical mutagens (for example, chemicals in tobacco)
3.38 explain Darwin’s theory of evolution by natural selection
3.39 understand how resistance to antibiotics can increase in bacterial populations,
and appreciate how such an increase can lead to infections being difficult to control

STORING GENETIC INFORMATION

3.14 understand that the genome is the entire DNA of an organism and that a gene is a section of a
molecule of DNA that codes for a specific protein

3.15 understand that the nucleus of a cell contains chromosomes on which genes are located

3.16B describe a DNA molecule as two strands coiled to form a double helix, the strands being
linked by a series of paired bases: adenine (A) with thymine (T), and cytosine (C) with guanine (G)

Chromosome: A long length of DNA

made up of multiple genes.

Gene: A shorter length of DNA that

carries information about how to make
one specifically shaped protein.

DNA: Deoxyribonucleic acid. This is a

molecule that makes up genes and
chromosomes. It carries information
about how to make specifically shaped
proteins.

Structure of DNA: DNA is made of two

strands of polynucleotides (see below). It
is twisted into a double helix shape. If it
was unwound, it would look like a ladder.
 DNA close up: In this diagram, you can
see two polynucleotide strands, each
containing 3 nucleotides.
The sides of the DNA ladder are made
from sugar groups and phosphate
groups. The rungs of the ladder are
made from 2 complementary bases.
A always links to T
G always links to C
The strands run opposite/antiparallel to
one another (which is what the 5’ and 3’
are trying to show!).
If we know the sequence of the bases
along one strand (eg. GAG on this
diagram), we can work out the order of
bases along the other strand (ie. CTC)

Nucleotide: This is the basic unit of DNA.

Each nucleotide contains a phosphate
group, a deoxyribose sugar group and a
base (either A, T, C or G).

(note: in RNA, the sugar group is a ribose

sugar, there is no T base, but there is a U
base instead. RNA is a single
polynucleotide strand)

USING GENES TO MAKE PROTEINS

REMINDER: WHAT ARE PROTEINS?

The basic unit of a protein is called an amino acid.

There are 20 different types of amino acids, however there are several thousand different types of
protein.
All proteins have a unique shape (and function). This is determined by the exact sequence of the
amino acids in the protein and how they are arranged. The sequence of the amino acids is vital. This
information is carried on the DNA molecule.
HOW DOES DNA CARRY INFORMATION ON HOW PROTEINS ARE MADE

3.17B understand that an RNA molecule is single stranded and contains uracil (U)
instead of thymine (T)

3.18B describe the stages of protein synthesis including transcription and

translation, including the role of mRNA, ribosomes, tRNA, codons and anticodons

As mentioned above, the DNA molecule consists of ‘rungs’ made from bases. Only one side of the
DNA molecule is ‘read’ by the cell. It is the order of the bases that carries the information about
what amino acids should be sequenced in a protein. This allows for very specific proteins to be
made.
Every 3 bases on a DNA molecule carries information about one amino acid in the chain. We refer to
the DNA sequence as a triplet code.

There are two important processes involved in making proteins: Transcription and Translation.

Analogy of protein synthesis: I have a recipe book which carries information on how to make
thousands of different cakes. A particular one makes chocolate cake. I cannot tear out the recipe and
give it to another person, as I need to keep all my recipes together. I would need to make a copy of
the one recipe and give it to another person. This person then gathers the ingredients and uses the
recipe to make the chocolate cake.

Apply the analogy: The recipe book is the chromosomes made from DNA in the nucleus. The
chocolate cake recipe is the gene. The copy of the recipe is called mRNA (messenger RNA). The
process of copying the recipe is called transcription. The process of another person making the cake
is called translation. The ingredients to make the cake are the amino acids. The chocolate cake is the
protein.
TRANSCRIPTION

This is the process that creates a copy of the DNA molecule, the copy is called mRNA. Only a single
gene, coding for a single protein, is copied.
An enzyme (called helicase)
separates out the two
strands of the DNA
molecule

Another enzyme called RNA

polymerase binds to where
transcription must start (the
promotor region). It only
makes a copy of one strand
of the DNA molecule.

Inside the nucleus there are

free-floating RNA
nucleotides. As RNA
polymerase moves along
the strand, it forms a
complementary mRNA
strand.

Once formed, the mRNA

strand detaches from the
DNA strand so the DNA
strand can re-coil.

RNA polymerase recognises

where to stop due to the
terminator region. The DNA
is no longer copied and the
mRNA strand completely
detaches.
Remember, mRNA strands are single stranded, they have no T (thymine) base but instead have U
(uracil), their nucleotides have a ribose sugar.

mRNA means messenger RNA. The 3 base sequence on an mRNA strand is called a codon.

Transcription occurs in the nucleus (where the DNA is located). Once the mRNA copy has been made
it leaves the nucleus and finds a ribosome, found in the cytoplasm. This is where translation takes
place.

TRANSLATION

This is the process by which an mRNA strand enters a ribosome and tRNA transfers the correct amino
acid to form a chain, which makes a protein.

tRNA means transfer RNA

tRNA Structure

tRNA molecules are cross shaped molecules. At one end there is a binding site for an amino acid. At
the other end there is a 3 base sequence called an anticodon.
The anticodon sequence will determine what amino acid attaches at the other end.
In the cytoplasm of the cell there are many tRNA molecules, each with different anticodons. There
are also many amino acids. The tRNA molecules will attach to their corresponding amino acid. They
can then be used in translation.

An ‘empty’ tRNA molecule A tRNA molecule with an amino

acid attached
Translation

The mRNA strand finds a

ribosome, within the
cytoplasm of the cell, and
enters it.

On the mRNA strand, 3 bases

together are called a codon. A
tRNA molecule enters the
ribosome containing 3
complementary bases on their
anticodon. They connect
together within the ribosome.

As the ribosome moves along

the mRNA strand, a second
tRNA that has an anticodon
complementary to the second
codon on the mRNA strand.
Both tRNA molecules carry an
amino acid, which come into
close contact and bond
together.

As the ribosome moves along

the mRNA strand, the amino
acids start forming a chain.
‘Empty’ tRNA molecules
detach.

The process continues until a

stop codon is reached on the
mRNA strand. There is no
corresponding tRNA for the
stop codon. The amino acid
chain (now called a
polypeptide) is released

The polypeptide change will

then be modified and folded
to form a specifically shaped
protein.
THREE BASE CODE

On a DNA molecule, the 3 base code is called a triplet base sequence. On an mRNA molecule, the 3
base code is called a codon. On a tRNA molecule the 3 base code is called an anticodon.

The diagram shows us how the

triplet base sequence code can
be used to determine the amino
acid order.

Start in the middle of the wheel

and work outwards to find the
amino acid code. For example,
TCA codes for amino acid S,
serine.

Note: You do not need to know

specific amino acid names.

3.35B understand how a change in DNA can affect the phenotype by altering the sequence of
amino acids in a protein

3.36B understand how most genetic mutations have no effect on the phenotype, some have a
small effect and rarely do they have a significant effect

A mutation is a change in the base sequence of a DNA molecule (there is a section about mutation
later in this booklet).

If a triplet base sequence is changed, sometimes this may affect the amino acid sequence, for
example AGG codes for R, arginine. If the last base changes to AGC, this changes the amino acid to
S, serine. Mutations slightly change the structure of a protein. This may have no effect on the
protein’s function, a small effect on it’s function or a significant effect. It depends on the mutation.

Since there are 64 three base sequence combinations and only 20 amino acids, you can see from
the diagram that often there is more than one sequence for a single amino acid. For example, GCG
codes for A, Alanine. So does GCA, GCC and GCT. Therefore, a mutation in the last base here would
make no difference to the amino acid being coded for and does not affect protein structure at all.
CELL DIVISION

3.28 understand how division of a diploid cell by mitosis produces two cells that contain identical
sets of chromosomes

3.29 understand that mitosis occurs during growth, repair, cloning and asexual reproduction

3.30 understand how division of a cell by meiosis produces four cells, each with half the number of
chromosomes, and that this results in the formation of genetically different haploid gametes

3.32 know that in human cells the diploid number of chromosomes is 46 and the haploid
number is 23

In humans, normal body cells have 23 pairs of chromosomes in the nucleus of their cells, one is
inherited from the mother and the other one the father. 22 pairs are homologous (which means they
carry the same genetic information, therefore are the same size and shape). The 23rd pair are the
sex chromosomes, they are not homologous. They are the X and Y chromosomes. Because normal
body cells have chromosomes in pairs, we refer to the cells as having a diploid number of
chromosomes (2n).

Before any type of cell division can occur, the chromosomes have to replicate themselves, so the
new cell has its own genetic information.
Chromosomes carry genes, which are shown
as dark bands.

You can see that after replication the bands

are in the same location, showing an exact
copy of the chromosome has been made.
Each strand in the chromosome is called a
chromatid.

Once the chromosomes have replicated, the

Before the chromosome has After the chromosome has cell is ready to divide.
replicated replicated
MITOSIS

Mitosis is normal cell division, it occurs in all normal cells of the body for growth and repair. One cell
divides into two new daughter cells, both are genetically identical to the parent cell.

The parent cell is a normal diploid cell and divides into two daughter cells, also diploid.

Note: There is one cell division after the chromosomes line up in a line along the equator, one on
top of the other
MEIOSIS

This type of cell division ONLY takes place in the testes or ovaries. It occurs when a normal, diploid
cell divides to make 4 daughter sex cells (or gametes) that are haploid. The daughter cells are
genetically varied.

There are two cell divisions in meiosis.

Cell Division One

The chromosome pairs line up side by side.

This means …
1. The pairs of chromosomes line up
together randomly, eg. sometimes the
maternal one is on the left, but
sometimes it’s on the right. This is
called independent assortment.
2. Because the chromosomes are side by
side, the ‘arms’ of the chromosomes
may sometimes cross over and
exchange genetic information.

These two processes cause genetic variation

At the end of this cell division the daughter

cells are haploid (chromosomes no longer in
pairs), although there are still two chromatid in
each chromosome
 Cell Division Two

This cell division begins with the two daughter

cells from the previous division.

The chromosomes line up in a line along the

equator (similar to mitosis) and the chromatids
then separate into 4 grand-daughter sex cells.

The chromatids are now referred to as

chromosomes. Each sex cell is haploid as the
chromosomes are not in pairs (n).

INHERITING CHARACTERISTICS

3.19 understand how genes exist in alternative forms called alleles which give rise to differences in
inherited characteristics

3.20 understand the meaning of the terms: dominant, recessive, homozygous, heterozygous,
phenotype, and genotype

3.21B understand the meaning of the term codominance

3.22 understand that most phenotypic features are the result of polygenic inheritance rather than
single genes

3.23 describe patterns of monohybrid inheritance using a genetic diagram

GENETIC TERMS

chromosome: A long length of DNA containing multiple genes

gene: A section on a chromosome that carries information on how to code for one characteristic,
determined by one specific protein
allele: A different form of the same gene. For example, an eye colour gene may have two alleles:
blue and brown.
dominant allele: an allele that is ALWAYS expressed, whether in homozygous or heterozygous form,
this is symbolised as an uppercase letter (eg. B)
recessive allele: an allele that is ONLY expressed in homozygous form, this is symbolised as a
lowercase letter (eg. b)
genotype: the genetic makeup of an individual that is described using symbols (eg. BB or bb or Bb)
phenotype: the appearance of the individual (eg. brown eyes)
homozygous: When the two alleles present in an individual are both the same (eg. bb or BB)
heterozygous: When the two alleles present in an individual are different (eg. Bb)
codominance: When neither allele is more dominant or recessive. Both alleles are EQUALLY
dominant, this is symbolised as two different uppercase letters (eg RW)

GENETIC DIAGRAMS - A MONOHYBRID CROSS

A monohybrid cross means a genetic cross involving a single gene. Only one characteristic is being
determined in this cross.

Often our characteristics are controlled by many genes interacting together, for example nose shape
is not controlled by one gene, but by many genes (polygenic inheritance).

However, there are some characteristics that are controlled by single genes. For example, tongue
rolling, earlobe attachment, eye colour and blood type.

A letter in the alphabet represents a gene. A capital letter represents a dominant allele, a lower case
letter represents a recessive allele.
Example Question: Tongue rolling is caused by a dominant allele (T). To be a non tongue roller an
individual must be homozygous recessive. What are the expected offspring genotypes and
phenotypes of two heterozygous tongue rollers? Draw a genetic diagram.

Phenotype Mother Father

(appearance) Tongue roller Tongue roller

Genotype
(what genes are present
in the individual)

Meiosis occurs (half the number of chromosomes in each sex cell)

Sex cells (or gametes)

Punnett Square:
T t

T TT Tt

t Tt tt

Offspring (ratio of genotype and phenotype):

Note: ALL genetic diagrams must be drawn with the above headings to the size - parents phenotype
and genotype, gametes, punnett square, offspring phenotypes and genotypes
CODOMINANCE

Some pairs of alleles are neither dominant or recessive. They are equally dominant to one another.
In this case, they are both expressed in the phenotype. They are symbolised by using two different
capital letters.

Example Question: Flower colour in snapdragons is a codominant trait. Perform a genetic cross on a
homozygous red flowered plant and a homozygous white coloured plant. Predict the phenotype and
genotype of the offspring.

Phenotype Mother Father

(appearance) Red flowers White flowers

Genotype
(what genes are present
in the individual)

Meiosis occurs (half the number of chromosomes in each sex cell)

Sex cells (or gametes)

Punnett Square:
R R

W RW RW

W RW RW

Offspring (ratio of genotype and phenotype):

CODOMINANCE IN BLOOD TYPE

Example Question: A mother is heterozygous for blood type A, IAIO. A father is heterozygous for
blood type AB, IAIB. Perform a genetic cross to predict the possible blood types of the offspring.

Phenotype Mother Father

(appearance) Blood type A Blood type AB

Genotype
(what genes are present
in the individual)

Meiosis occurs (half the number of chromosomes in each sex cell)

Sex cells (or gametes)

Punnett Square:
IA IB

IA IAIA IAIB

IO IAIO IBIO

Offspring (ratio of genotype and phenotype):

SEX DETERMINATION IN HUMANS

3.26 understand how the sex of a person is controlled by one pair of chromosomes, XX in a female
and XY in a male

3.27 describe the determination of the sex of offspring at fertilisation, using a genetic diagram

As mentioned before, in humans normal body cells have 23 pairs of chromosomes in the nucleus of
their cells, one is inherited from the mother and the other one the father. 22 pairs are homologous
(which means they carry the same genetic information, therefore are the same size and shape). The
23rd pair are the sex chromosomes, they are not homologous. They are the X and Y chromosomes.

Females have two X chromosomes, XX. Males have an X and a Y chromosome, XY.

To determine the gender of any offspring created by a male and female, we can do a genetic cross
diagram. In this case, rather than the presence of alleles, we are determining the presence of whole
chromosomes.

Phenotype Mother Father

(appearance) Female Male

Chromosomes present

Meiosis occurs (half the number of chromosomes in each sex cell)

Sex cells (or gametes)

Punnett Square:
X Y

X XX XY

X XX XY

Offspring (ratio of genotype and phenotype):

For each fertilisation event, there is a 50/50 chance of having a boy or a girl.
CAUSES OF VARIATION

Variation: Any change in structure, form or function of an organism.

Variation in organisms is caused by two things: genetics and the environment.

Variation can come as two distinct types: continuous and discontinuous.

GENETIC VARIATION

3.30 understand how division of a cell by meiosis produces four cells, each with half the number of
chromosomes, and that this results in the formation of genetically different haploid gametes

3.31 understand how random fertilisation produces genetic variation of offspring

The causes of genetic variation are listed below. Independent assortment and crossing over are both
described in more detail in the meiosis section of this booklet, above. Mutation is further described
in a following section.
ENVIRONMENTAL VARIATION

3.33 understand that variation within a species can be genetic, environmental, or a combination of
both

The environment in which an individual grows up affects their characteristics (phenotype).

In humans, environmental factors such as diet, exercise, injury or illness all affect phenotype. We
also purposefully acquire characteristics, such as tattoos, piercings, the dyeing of hair.

In plants, environmental factors play a key role in developing phenotype. Sunlight, temperature,
mineral ions in the soil and disease are just some examples that affect phenotype.

TYPES OF VARIATION

DISCONTINUOUS VARIATION

CONTINUOUS VARIATION
MUTATION LEADS TO VARIATION

3.34 understand that mutation is a rare, random change in genetic material that can be inherited
3.35B understand how a change in DNA can affect the phenotype by altering the
sequence of amino acids in a protein
3.36B understand how most genetic mutations have no effect on the phenotype,
some have a small effect and rarely do they have a significant effect

Definition?

A random change in the base sequence of

DNA

Before cell division the DNA inside them is

replicated. Sometimes a mistake is made
causing a change in the DNA’s sequence of
bases (see diagram)

What happens if a mutation occurs?

A different protein might be made causing a

characteristic to change.

This can be an advantage or a disadvantage

to the organism. It depends if it occurs
before mitosis or meiosis as to the
consequence.

When does it occur?

Before cell division. Cells divide in two

ways.

Mitosis (normal cell division for growth and

repair) – A Somatic Mutation occurs

Meiosis (to make sex cells in the

ovaries/testis) – A Germline Mutation
occurs
If mitosis

Normal cell division for growth and repair

If mutation occurs, normal cells are affected

Disadvantage: Tumours/cancer

Advantage: Normal cells may be able to

perform their job better but this will not be
passed on to the next generation

If meiosis

Cell division in the testes/ovaries to make

sex cells

If mutation occurs, sex cells are affected

Disadvantage: Offspring get genetic disease

Advantage: Probably just a minor change

but will contribute to natural selection as
this change will be passed on to the next
generation
CAUSES OF MUTATION

3.37B understand that the incidence of mutations can be increased by exposure to ionising
radiation (for example, gamma rays, x-rays and ultraviolet rays) and some chemical mutagens (for
example, chemicals in tobacco)

Mutation is a random change to the base sequence of DNA.

The chances of a mutation occurring can increase by:

1. Exposure to chemicals called mutagens. Mutagens that specifically cause cancer are called
carcinogens (eg. tar in cigarettes)
2. Exposure to ionising radiation:
○ UV light
○ X rays
○ Gamma rays

NATURAL SELECTION

3.38 explain Darwin’s theory of evolution by natural selection

Evolution is the way that living things change over time.

The first person who explained how evolution happens was Charles Darwin with his scientific theory
of natural selection.

The process of natural selection is as follows:

● Within a population there is variation between individuals

● This variation is caused by random mutation
● When there is a change in the environment, individuals with a particular characteristic may
survive better than others
● Individuals without the characteristics may die.
● Those that survive will be able to reproduce and pass on their genes to their offspring.
● Over many generations, the entire population has the gene which codes for the desired
characteristic

note: often examination questions will describe an environmental change or the useful
characteristic, sometimes you may have to identify what it might be.

Example 1; if there is a disease, some members of a population might be resistant to it,

whilst others may die

Example 2; if there is a change to plant foliage colour, some individuals might be a better
colour to camouflage than others
ANTIBIOTIC RESISTANCE

3.39 understand how resistance to antibiotics can increase in bacterial populations, and appreciate
how such an increase can lead to infections being difficult to control

Wherever antibiotics are present, they encourage bacterial resistance due to natural selection. This
means that in places such as hospitals, where many people are being treated with antibiotics,
bacterial resistance occurs. There is a strain of bacteria called MRSA (Methicillin-resistant
Staphylococcus aureus) that is commonly found in hospitals and causes infection in postoperative
patients. This bacteria is difficult to control.