• S E L E C T S A N D P R O C E S S E S A P P R O P R I AT E

Q U A L I TAT I V E A N D Q U A N T I TAT I V E D ATA

A N D I N F O R M AT I O N U S I N G A RA N G E O F
A P P R O P R I AT E M E D I A B I O 1 1 / 1 2 - 4
• A N A LY S E S A N D E VA LU AT E S P R I M A RY
A N D S E C O N D A RY D ATA A N D
I N F O R M AT I O N B I O 1 1 / 1 2 - 5
• S O LV E S S C I E N T I F I C P R O B L E M S U S I N G
P R I M A RY A N D S E C O N D A RY D ATA ,
CRITICAL THINKING SKILLS AND
SCIENTIFIC PROCESSES BIO11/12-6
• EXPLAINS THE STRUCTURES OF DNA
A N D A N A LY S E S T H E M E C H A N I S M S O F
I N H E R I TA N C E A N D H O W P R O C E SS E S
OF REPRODUCTION ENSURE
CONTINUITY OF SPECIES BIO12-12

Module 5
– Heredity
 Outcomes for this module
 Explain the different mechanisms of reproduction
including internal and external fertilisation, asexual and
sexual reproduction, budding and fission
 Analyse the processes of fertilisation and manipulation
for agriculture
 Model and understand the processes of mitosis, meiosis
and DNA replication
 Compare DNA in eukaryotes and prokaryotes
 Model polypeptide synthesis including translation,
transcription, mRNA, tRNA and phenotypic expression
 Predicting variations through crossing over and mutations
 Outcomes for this module
 Predicting variations through crossing over and
mutations
 Interpreting examples of autosomal, sex-linkage, co-
dominance, incomplete dominance and multiple alleles
 Construct and interpret pedigrees and Punnett squares
 Collect, record and present data on frequencies of
characteristics
 Investigating DNA sequencing and profiling
 Population genetics for conservation, disease and
human evolution
Reproduction – the birds, One of the core properties
of living organisms is
bees and evolutionary reproduction, all living
things must be able to
fitness reproduce another version
of itself to continue the
species. Life originates
from reproduction; we
have all be reproduced
going back to the very
first organisms on earth.
Not only do organisms
need to reproduce, but
they must do it
successfully. Reproductive
success is directly related
with the biological fitness
of a species.
Reproduction – the birds, Reproduction is a bit like going
to the movies, you can do it on
bees and evolutionary your own but is usually more
enjoyable with a friend!
fitness All organisms one earth
reproduce through either
asexual or sexual reproduction.
Asexual reproduction involves
one parent giving rise to
offspring that are
genetically identical to each
other AND to their parents.
That sounds perfect right? Who
wouldn’t look in the mirror and
go ‘hey, 35 of those would be
pretty cool’, but it’s not so
great for evolution. We will look
at asexual reproduction in
more depth soon.
Reproduction – the birds, Reproduction is a bit like going
to the movies, you can do it
bees and evolutionary on your own but is usually
more enjoyable with a friend!
fitness All organisms one earth
reproduce through either
asexual or sexual
reproduction. Asexual
reproduction involves one
parent giving rise to offspring
that are genetically
identical to each other
AND to their parents.
That sounds pretty perfect
right? Who wouldn’t look in
the mirror and go ‘hey, 35 of
those would be pretty cool’,
but it’s not so great for
evolution. We will look at
asexual reproduction in more
depth soon.
Reproduction – the birds, Sexual reproduction is GREAT
for evolution and means we

bees and evolutionary get the variation that we see

amongst organisms across the
globe. Sexual reproduction
fitness involves two gametes – these
are the sex cells that organisms
produce that carry their DNA.
In humans, males produce
sperm and females produce
eggs.
During sexual reproduction,
each newly formed embryo
contains a mix of genetic
material from both parents
and is therefore not identical.
This process introduces
genetic variation into the
species; certain random
variations might be more
suitable for the individual and
they will out compete those in
the environment.
 Reproduction – the birds, bees and
evolutionary fitness
But dating ain't easy, and neither is the
process of sexual selection. It requires
much more expenditure of time and
energy (such as finding or competing for a
mate, gamete production fertilisation,
protection).
Each organism contains a specific number
of chromosomes. For humans, we contain
46 chromosomes (23 pairs) whilst chickens
have 78 (there is usually no relationship
between species complexity and
chromosome number). During sexual
selection in humans, we only take half of
our chromosomes from mum and half
from dad (excluding chromosomal
disorders). This process is called meiosis
and we will once again look at this more
later.
 Reproduction – the
birds, bees and
evolutionary fitness
Every cell in the human body (except
reproductive cells) has 46 chromosomes
and this is referred to as diploid – two sets
of chromosomes.
Diploid (2n – n = set of chromosomes,
humans n = 23) – a cell containing two sets
of chromosomes (one from each parent,
maternal and paternal)
Two gametes (an egg and sperm) combine
and fertilise to create a zygote (a fusion of
haploid gametes).
Haploid (1n) – one set of chromosomes.
These two haploid cells combine to form a
diploid zygote – that goes on to divide and
form an embryo then foetus.
 Sexual reproduction
in animals
Nearly all animals procreate through sexual
reproduction, mostly due to the associated
benefits of genetic variation. Most species
have a separate Male and Female, but some
species hold both sexual organs in one
organism – hermaphrodite (such as the sea
slug shown here).
Certain species can also do the old
switcheroo, changing between male and
female mostly based on the environment.
Cichlid fish will change their sex based on the
temperature and pH of the environment.
They may also change sex in response to the
ratios of males to females.
Sexual reproduction summary
Two organisms produce offspring are genetically different
from parents
Advantages of Sexual Disadvantages of Sexual
Reproduction reproduction

Offspring are mix of both parent's Fewer offspring produced (due to

genetic material lengthy process)

Larger chances of genetic variation Species have to spend more of their

time/resources in finding and
fertilising a mate
Adaptation more likely to changing Few genes passed onto offspring
environments
Asexual reproduction summary
One organism that produces offspring that are genetically
identical to the parents
Advantages of Asexual Disadvantages of Asexual
Reproduction reproduction

More efficient process (less time No genetic variation

and resources)

No variation (good for non-changing Only suited to one habitat

environment)

Doesn’t require a mate to occur More susceptible to disease /

environmental change
Kids in or kids out?
Internal vs External fertilisation
For species that do sexual
reproduction, once they have met
and go to know each other, they
need to work out a location to ‘do
the deed’. Organisms fertilise either
internally – within one of the
organisms, or externally – the
gametes are combined (fertilisation)
outside of the organisms.
The key to fertilisation is a meeting
between the gametes in an
environment where the cell does
not dehydrate. Marine species
typically externally fertilise due to
the moist environment. For land
creatures, internal fertilisation is
preferred due to the mostly dry
environment.
 External fertilisation requires
External fertilisation – lets synchronisation – reproductive
cycle, mating behaviour and

hope the kids are mine the release of gametes. The

fertilised eggs are usually left
alone within minimal parental
care (which means less energy
use by the parents). This also
means that the eggs are more
susceptible to the elements
and to potential predators.
To alleviate this, external
fertilisers regularly produce a
massive amount of eggs –
increasing the chance of
survival and that the DNA will
be passed on. Some eggs will
also be placed in another
location or in a place where
the eggs can be moved to
another location (through
wind/river) in order to increase
dispersal.
 Examples of external
fertilisation
Coral: coral are invertebrates that fertilise by
sending millions of gametes into the sea.
These gametes float around and are taken
through to different locations. Pheromones
stimulate the gamete release in other coral.
All the gametes float around until they fall in a
location and spawn the coral, only a very
small amount ever grow into a colony.
Most fish will release their eggs and sperm in
large quantities at the same time, fertilising
just outside of the organisms. They are usually
killed off by predators or infections.
Amphibians release their gametes into ponds
and streams, usually on the outside of their
bodies (as seen in the image). The tadpoles
don’t receive parent care, but the parents
make an enormous number.
 Terrestrial organisms tend to
Internal fertilisation – internally fertilise. This involves
the two gametes meeting

Keep your kids close

within one of the parents
(usually the female) and then
sometimes growing within. The
internal environment protects
the embryo and also provides
growth stimulants and nutrition.
Internal fertilisers typically
produce a small amount of
young (sometimes even just
one like humans) and spend a
long gestation period in
growing and caring for the
young (viviparous).
Although these organisms
fertilise internally, the egg may
develop a shell (oviparous)
and be placed in the external
environment e.g. turtles and
other reptiles.
 Terrestrial organisms tend to
Internal fertilisation – internally fertilise. This involves
the two gametes meeting

Keep your kids close

within one of the parents
(usually the female) and then
sometimes growing within. The
internal environment protects
the embryo and also provides
growth stimulants and nutrition.
Internal fertilisers typically
produce a small amount of
young (sometimes even just
one like humans) and spend a
long gestation period in
growing and caring for the
young (viviparous).
Although these organisms
fertilise internally, the egg may
develop a shell (oviparous)
and be placed in the external
environment e.g. turtles and
other reptiles.
 Ex-ample-ternal fertilisation
(get it! Examples of
external fertilisation)

Reptiles commonly internally fertilise and then deposit the

shelled egg after a certain period. Shelled eggs contain enough
nutrients for development – birds do a similar process. Birds will
also incubate their eggs to provide them with heat (penguins).
Mammals fertilise inside and then will usually keep their
embryos internally (except for monotremes like the platypus).
The eggs are incubated in a nest. Marsupials develop internally
and then continue development within the pouch. This allows
species like Kangaroos to control development. Placental
mammals complete all of their development within the amniotic
sac where it is connected to a placenta. The placenta provides
all of the nutrients that are needed for the young. The organism
is much more likely to survive but requires much more energy
input and less quantity of offspring.
 Internal External
Fertilisation fertilisation

Advantages (at
least 3)

Disadvantages
(at least 3)
The advantages of sex – The Red
Queen Model
Bell (1982), parasites and
pathogens are everywhere
so sex increases chance of
producing novel genotypes
keeping one step ahead of
parasites – evolutionary
arms race.
Evidence: freshwater snail
has higher frequency of
males in high parasite areas.
But what about those who
aren’t good at the dating game?
– Asexual reproduction.

Asexual reproduction means an organism can

produce its own offspring without the need for
another organism.
These species benefit in having offspring that is
identical, which is great when you’re a perfect
species, but not when it comes to evolving in
response to changes in your environment.
Sexual reproduction also results in genome
dilution, where fewer copies of its genes are
passed on. Asexual reproduction requires no
courtship, little energy and is a quick process when
compared to sexual reproduction, but the lack of
genetic diversity means it is fairly uncommon.
Fill in the table below,
advantages and disadvantages
of asexual reproduction
Asexual reproduction

Advantages Disadvantages

Identical offspring Less chance of evolving

Quick and simple Disease will have a

higher effect on
population
Can be used when under
stressful conditions
 Parthenoge
nesis – don’t
need no man
Parthenogenesis involves an
egg developing without needing
fertilisation. Bees wasps and
ants can be involved in this
process.
The offspring can be both
diploid or haploid. Komodo
dragons can also perform this
under stressful conditions, like
not finding a suitable mate (they
perform both sexual and
asexual). Haploid is straight
forward by diploid requires the
female to perform mitosis on
the sex cell to get two sets of
chromosomes.
 Parthenoge
nesis – don’t
need no man
Sexual reproduction – egg
and sperm cell combine to
create diploid zygote (normal)
Haploid parthenogenesis –
the organism creates a haploid
zygote/individual through no
fertilisation (some species of
ant)
Automixis – the mother creates
their egg and either replicates it
or fuses with a second egg to
create a diploid zygote
Apomixis – the female egg cell
is made already as diploid
Different species of ants can use
pathogenesis. If they fertilise
normally, they can make a diploid
female queen or diploid female
workers.

But if the female’s eggs are

unfertilised, they can still develop into
a haploid male! Meaning that the
male has half the DNA of the female
(bringing down the patriarchy).
Bees, who work similarly to ants, also use
haploid parthenogenesis.
 Plant
reproduction
– a bit of both
Plants also need to
reproduce and they are
already in a difficult spot in
that they cannot move! So
plants have evolved over
millions of years to be able to
reproduce both sexually and
asexually.
They need to be able to fuse
gametes in order to produce
offspring, just like animals.
Let’s first look at the parts of
a plant and their sexual
organs.
Plants contain both male and female sexual organs, this is how they are able to
complete both sexual and asexual reproduction. The stamen is the male part,
containing the anther where pollen is created. Pollen flies off the male part and then
attaches on to the female stigma.
Once pollen (either it’s own or another's) attaches onto the stigma (part of the carpel),
the plant is pollinated. The pollen traves down the style towards the ovary where the
pollen will fertilise the ovules (haploid eggs) that are awaiting at the bottom.
 Pollination –
gamete airways
Pollination refers to the male gametes that
need to be taken to another plant of the same
species. Plants cannot move, so they rely on a
number of sources (agents) to take their
pollen for them.
 Wind dispersal – wind picks up pollen and
takes it to other locations, eventually
settling with a very small amount hitting the
stigma of other plants. Plants that use this
method produce large amounts o pollen.
 Water dispersal – rivers and streams
carrying pollen towards other locations
 Animal dispersal – insects like bees pick
up pollen when feeding on nectar and carry
these to other plants where they stick on
the stigma. Pollen adaptations like hooks are
key for this method.
 Plants are a tad bit weird, they do enjoy sexual reproduction
To date or not to with other plants of the same species, but in tough times they
can ‘get the job done themselves’.
date – cross and These two process are called cross and self pollination.
self pollination During cross pollination, the pollen is carried to another plants
stigma, while self fertilisation is where the pollen makes the
small jump to the stigma on the SAME plant.
Cross vs self pollination – what’s
best?
Self-pollination is easy, it means no need to attract
pollinators or adaptations to assist pollen movement.
Self-pollinators are also able to pass on the same genes.
But, as we learnt with asexual reproduction, this means that
self-pollinating species have less genetic diversity and are
more susceptible to changes.
Cross pollination is seen as the better option, but it does
require more time and energy in order to get the process
happening, the outcome is worth it. But what stops a plant
self pollinating?
Cross vs self pollination – what’s
best?
Self-pollination is easy, it means no need to attract pollinators
or adaptations to assist pollen movement. Self-pollinators are
also able to pass on the same genes.
But, as we learnt with asexual reproduction, this means that self-
pollinating species have less genetic diversity and are more
susceptible to changes.
Cross pollination is seen as the better option, but it does require
more time and energy in order to get the process happening, the
outcome is worth it. But what stops a plant self pollinating?
 Maturing of gametes at different times (pollen cant fertilise
ovules when they are dispersed)
 Lengths of stamen and stigma are different
 Chemical barriers to prevent self pollination – same gametes just
won’t work
 Seeds are the fusion of two plant
gametes – pollen and ovules.
Seeds – its ‘yeet’ Once seeds form, they need to be
dispersed from the plant. To do

time! this, plants once again rely on the

elements from around them. Each
species uses a particular method.
A wide dispersal means less
competition for resources and
more chance of offspring survival.
For dispersal by animals, plants
produce large fleshy fruits that
contain the seeds within. Animals
will take the fruit, each it and then
either dump or poop the seed in a
different location.
Wind dispersal is assisted by
‘wings’ and features that can be
picked up but the wind.
Self-dispersed species rely on a
capsule that can be used to
quickly disperse the seeds like an
explosion!
Summary
1) Plants produce both male
and female gametes
2) These are taken by different
methods to either a different
or the same plant
3) Once the pollen is obtained
on the stigma, it fertilises
the ovules
4) Seeds are created from the
fertilised egg and are
disperse through different
methods
5) These seeds germinate
(open and grow) when under
the right conditions (light,
pH, water content)
 Asexual plants –
vegetative propagation
Many plants are able to regrow just using
the root. Carrots, beetroot and strawberries
can all do this.
The use the roots, stems, leaves or buds
of an adult to create a clone – vegetative
propagation.
The roots/stems/leave/buds contain all the
material to create a new organism and
therefore can create new ones once the top
part has been removed, for example
potatoes. This process is used in agriculture
to grow many fruits like watermelon and
mangos.
 Forms of Asexual
reproduction – Budding
As we have discussed, there are many
benefits to asexual reproduction, and
many microscopic species use the
process to reproduce. One of these
methods is budding. Budding is where
an adult gives rise to a small ‘bud’ (an
outgrowth) which then grows into a new
individual.
Corals use budding, the new individual
stays attach to the parent – hence why
coral grows together but are still
colonies (many individuals packed
together).
 Forms of Asexual
reproduction – Budding
Yeast (not yeet!) – unicellular fungi
perform budding. They form a new bud
when conditions are right. The parent
replicates its DNA and places on copy
into the nucleus. This process if quick
and efficient, creating identical
offspring. Some jellyfish can also do
this process, they divide the parent cells
and grow into an identical outgrowth.
This process is great for a non-
changing environment (genetically
identical offspring don’t need to mutate
and change)
 Spores –
Fungi be
gone!
You ever pick up mouldy bread and
notice the green and blue mould
growing on it? Well those are
spores!
Spores are a form of asexual AND
sexual reproduction in which is
mostly done by the large family of
Fungi! Spores are unicellular
reproductive cells that can be
mass produced e.g. mushrooms
and mosses. Sporangia hold these
and allow them to be dispersed and
travel long distances. They expand
the distribution of the species.
The spores do not need to fuse like
gametes but aren’t like seeds
because they are not an embryo.
 Spores –
Fungi be
gone!
Spores can also be done
sexually. This process involves
two hyphae haploid cells (two
separate fungi) combining
(fusing) to form a diploid
nuclei cell. This is a cell that
contains two sets of DNA.

This diploid cell will then go on

to create haploid spores that
contain a mix of DNA from the
two original fungi. This process
is beneficial for some species of
fungi in that it allows for
genetic variation.
 Spores –
Fungi be
gone!
Spores can also be done
sexually. This process involves
two hyphae haploid cells (two
separate fungi) combining
(fusing) to form a diploid
nuclei cell. This is a cell that
contains two sets of DNA.

This diploid cell will then go on

to create haploid spores that
contain a mix of DNA from the
two original fungi. This process
is beneficial for some species of
fungi in that it allows for
genetic variation.
 Fungi Unicellular Budding

Sexual
Multicellular reproduction

Asexual
reproduction
Spores

Unicellular fungi (yeasts) reproduce via budding that is asexual (offspring

are the same).

Multicellular fungi reproduce via spores that is both sexual and asexual.
 Binary fission is an asexual process that many
protists and bacteria utilise. It refers to the
simple process of a single organisms splitting
(fission) into two (binary). This can be done by
both prokaryotes and eukaryotes.

Binary 1. The organism grows to twice its size

fission – 1 2. The organisms DNA is replicated (we will
>2>4> learn this)
3. Organism splits into two identical organisms
8 > 16 (same genetic material)
 Whilst great for growing many organisms
in a short space of time. BF does not
Binary provide any room for genetic variation!
fission – 1
>2>4>
8 > 16
Binary fission –
Bacteria
Binary fission is great for a organism such as
bacteria. Under the right conditions they can
grow exponentially (very quickly) and
create a huge colony (double every approx.
20 minutes).
The DNA replicates and goes to each of the
cell, proteins are then involved in the
‘pinching off’ process. Cells have to mature
and become an adult before completing the
same process – they just grow, split, repeat.
This image shows the process happening
under a microscope
 Binary fission
– Protists
Protists are unicellular
but also eukaryotes.
They use a different
array of methods to
replicate by binary fission
(as shown in the image).
They use the process of
mitosis and divide their
chromosomes equally.
They can use budding
and binary fission.
 Fragmentation

Fragmentation is a special
case in which whole
organisms can grow from just
a fragment.
This includes many basic
organisms that do not have
complex systems (e.g. no
respiratory or reproductive
systems).
This is asexual, all the
offspring are identical.
 Fragmentation

Fragmentation is a special
case in which whole
organisms can grow from just
a fragment.
This includes many basic
organisms that do not have
complex systems (e.g. no
respiratory or reproductive
systems).
This is asexual, all the
offspring are identical.
Answer the following question
as dot points.

What are some similarities?

What are some differences?

Similarities:

- Both processes use meiosis and

mitosis.
- Humans use two haploid gametes
(Egg, n and Sperm, n) to create a
diploid zygote (2n)
- Humans use sexual reproduction
and fungi can also use sexual
reproduction

Differences:
- Fungi can produce asexual spores
that germinate into a haploid
hyphae
- Humans don’t have a form of
asexual reproduction
- Sexual reproduction in fungi
 Internal
Reproducti Sexual Fertilisation
on reproduction
External
fertilisation

Asexual
reproduction Spores Pollination

Pathogenesis Cross-
fertilisation
Budding
Fragmentati Binary Self-
on Fission fertilisation
By understanding how reproduction works scientists have been able to
manipulate plant and animal reproduction.
For plants, humans can choose which individual plants we breed by taking
the pollen and offspring.
inserting onto the
stigma. The same can
be done with
agricultural animals
e.g. artificial
insemination by
obtaining sperm and
using it to inseminate a
female.
This process allows
humans
Mammal Sexual Reproduction
The next section of our module will require us
to go in depth into how the following three
process affect mammal reproduction

1. Fertilisation
2. Implantation
3. Hormonal control of pregnancy and
birth
Zygote to Foetus
The process of creating offspring is fundamental to the continuation of a
species. Mammals have a variety of ways in managing this process and
protecting future offspring.
 Mammals internally fertilise meaning there is a higher chance of the
gametes meeting.
 Implantation of the zygote on the uterine wall assists to increase the
embryos' chance of survival.
 Pregnancy protects the young during development and receives a
constant nutrient supply.

To coordinate these process, mammals rely on sex hormone signals.

Mammals also have a low number offspring but spend more time/energy
on the care for them.
Nearly all males
and females
contain gonads
(sex organs)
when they are
born.

At around 10-14
in girls and 12 –
18 in men, a
hormone is
released that
allows the
organs to
‘mature’ and
become ready to
 Breeding
time
Organisms may not always be
ready to breed. Many
organisms like cattle and sheep
require a ‘mating period’ or
be in ‘oestrus’ to produce
gametes. This is done to
ensure that offspring are born
during periods they will
survive (spring with good
conditions and plenty of food).
Primates and other mammals
are continuous and can
reproduce throughout the year.
They can choose when to
have young but require a
longer gestation period.
 Hormones in Mammalian
Reproduction
There are three main hormones in mammalian
reproduction (they also have biotech uses in
Hormone contraception and medication)
Function
Androgens Male, they control function and development of sex
*(don’t spend much organs as well as muscles, body hair etc. Cells in the
time on this one)
testes release testosterone with produces sperm
Oestrogens Female, they control development and function of sex
organs and enlarged breasts, wide hips etc. They occur in
both but much higher in women. They onset the oestrus
in seasonal breeders. They allow the ovaries to produce
eggs. Secreted from ovaries
Progesterone Pregnancy, include progesterone that stimulates milk
production. Secreted from ovaries as well
 The Ovulation and Menstrual Cycle
Humans have a very
short window in order
to allow for
fertilisation to occur.
The ovulation period
is when the female
will release a viable
egg that can be
fertilised by a viable
sperm. In order for
this to happen, a
cycle of hormones
must occur – as
 The Ovulation and Menstrual Cycle
Ovulation usually
occurs on the 14th day
of every 28 day cycle.
This follows the
production of
estrogen and LH
(luteinizing hormone).
LH and FSH both have
a strong role in
preparing the
uterus in case of an
egg becoming
fertilized.
 The Ovulation and Menstrual Cycle
Following ovulation, there
are two outcomes.
1) If the egg is not
fertilised, progesterone is
released and the other
hormones don’t continue
production (see image). The
progesterone causes the
menstrual cycle to begin
again and eventually leading
to the next period. This is
where the uterine lining, that
was prepared before, breaks
down and is released from
the body.
 The Ovulation and Menstrual Cycle
Following ovulation, there
are two outcomes.
2) If the egg is fertilized.
Then the body stops the
usual hormone cycle in
order to support
pregnancy. A hormone
called HCG is released
following implantation.
This supports the growth
of the new zygote
(fertilised egg).
It is
essential
that you
remember
this graph,
in particular
when
ovulation is
and the 4
hormones
shown in the
graph.
Ovarian phases timeline

1) The menses lasts about four

days (menstrual period).
The lining of the uterus
breaks away (bleeding)
2) A new endometrial lining
forms in the uterus for about
5-12 days (pre-ovulation)
3) Ovulation takes place in an
ovary for 13-15 days after
menstruation (varies)
4) Following ovulation, the
corpus lutein enlarges
and secretes progesterone &
oestrogen. This prepares the
uterus for implantation
(fertilised egg)
5) Pregnancy is activated when
a fertilised ovum arrives on
the uterine wall. Placenta
forms as well and these
Ovarian phases timeline

1) The menses lasts about four

days (menstrual period).
The lining of the uterus
breaks away (bleeding)
2) A new endometrial lining
forms in the uterus for about
5-12 days (pre-ovulation)
3) Ovulation takes place in an
ovary for 13-15 days after
menstruation (varies)
4) Following ovulation, the
corpus lutein enlarges
and secretes progesterone &
oestrogen. This prepares the
uterus for implantation
(fertilised egg)
5) Pregnancy is activated when
a fertilised ovum arrives on
the uterine wall. Placenta
forms as well and these
Ovarian phases timeline

1) The menses lasts about four days (menstrual period). The lining of the uterus breaks away
(bleeding)
2) A new endometrial lining forms in the uterus for about 5-12 days (pre-ovulation)
3) Ovulation takes place in an ovary for 13-15 days after menstruation (varies)
4) Following ovulation, the corpus lutein enlarges and secretes progesterone & oestrogen.
This prepares the uterus for implantation (fertilised egg)
5) Pregnancy is activated when a fertilised ovum arrives on the uterine wall. Placenta forms
as well and these secrete addition hormones.
1) A hormone (GnRH) released in the pituitary
gland causes the release of FSH and LH.

2) FSH/LH prepare the uterus for fertilisation

and pregnancy, stimulating oestrogen
production.

3) Oestrogen stimulates the release of LH

secretion (positive feedback)

4) LH triggers ovulation (release of eggs and

formation of corpus luteum (releases
progesterone)

5) Progesterone in the uterus maintain the

endometrium if pregnancy occurs.

6) Positive feedback – release of more FSH

and LH
GnRH Causes pituitary glad
Gonadotropin-
releasing hormone
to release FSH and LH
FSH Controls the menstrual
Follicle stimulating
hormone
cycle and production
of eggs, follicle
growth, maturing and
preparing the
endometrium
LH Controls the menstrual
Luteinizing hormone
cycle and triggers
ovulation (release of
egg). LH levels rise
just before ovulation.
hCG Hormone produced by
Human chorionic
gonadotropin
the placenta following
implantation
Cycles and hormones
Oestrogen and progesterone are the key two hormones
that control the following:
The ovarian cycle, controls the production and
maturation of gametes (ova) in the ovaries.
The menstrual cycle, prepares the uterus for implantation
of a fertilised egg each cycle and if none occurs the
lining of the uterus tears away.
FSH – follicle stimulating hormone and LH – luteinising
hormone.
Preparation of lactating and pregnancy maintenance.
 Ovarian
Cycle
Ova, eggs, are present when
organisms are born. Once an
individual hits puberty, they
begin to produce eggs in a
cycle (approx. 28 days).
Hormones trigger the ova to
become mature as they
develop primary follicles in the
ovary. The follicle of the mature
ova move to the surface of the
ovary and creates a bulge – a
Graafian follicle. A hormone is
released that stimulates the LH
hormone and the Graafian
follicle burst, releasing an egg –
OVULATION. The cilia in the
uterus draw the egg in and it
moves down. Fertilisation can
then occur.
 Male production
of Sperm –
Spermatogenesis
Hormones also control males
production of sperm. The
hypothalamus, pituitary
gland and testes release
hormones as shown in the
image. They also help to
control testosterone levels.
Sperm are produced in the
testes until they mature and
are haploid. Sperm tails
assist movement towards
the ovum and then they can
penetrate the egg –
fertilisation.
 Fertilisation –
sperm ‘pleased
to meet you egg’
 Sperm are automatically
attracted to the egg.
 Progesterone assists in
maturing the egg to allow it to
penetrate.
 Sperm then penetrate through 3
layers and enzymes play a
critical role in the latter stages.
 Once a sperm has penetrated the
cell membrane, enzymes are
released that destroy the other
sperm.
 The haploid nucleus of the egg
fuses with the haploid nucleus of
the sperm.
 Fertilised egg travels along the
oviduct and begins to develop.
Hormonal control of Pregnancy

Once the fertilised egg is implanted on the

uterine wall, pregnancy begins!
The ovaries continue to release hormones for
three months and then the placenta takes
over. If the egg is not fertilised, the egg
degenerates and so does the lining of the uterus.
The placenta (at 3 months) releases the
hormones that control the pregnancy. The main
two continue to be progesterone and
oestrogen. They are needed to maintain the
ideal conditions (homeostasis). Oestrogen
promotes the growth of the endometrium (lining)
and progesterone stimulates blood vessel growth.
Progesterone then prevents uterine activity to
stop the foetus being affected.
Other hormones stop over development and
overgrowth. The placenta connects to the
foetus through the umbilical chord and provides a
constant supply of nutrients and oxygen through
arteries and veins.
 Birth – the
biology of life
Following approximately 9 months
of development, the foetus is
ready to slide on out! Not really, it’s
a tight squeeze.
Firstly, the muscles in the uterus
must contract to expel the baby.
Tissue in the cervix must soften
so it can be pushed apart to allow
passage. Prostaglandins are the
main hormone that initiates labour.
Tissue is softened by the hormone
oxytocin. This hormone softens all
of the muscle and targets the
cervix.
Adrenaline is also involved in the
process and other hormones reduce
pain. Prolactin stimulates milk
production following birth, allowing
for the mother to feed the newborn
with milk.
There is few differences
between the internal and
external fertilisers in terms of
the mean number of young
born/eggs laid in a repro cycle
(43 vs 40)
 There is few similarities
between the internal and
external fertilisers in terms of
the mean number of young
born/eggs laid in a repro cycle
(43 vs 40)

Using a higher range of species

rather than just six for each type
of fertiliser will increases the
range of results and improve the
experiment in response to the
hypothesis.
 There is few similarities
between the internal and
external fertilisers in terms of
the mean number of young
born/eggs laid in a repro cycle
(43 vs 40)

Using a higher range of species

rather than just six for each type
of fertiliser will increases the
range of results and improve the
experiment in response to the
hypothesis.

Animals that use external

fertilisation usually produce a
larger amount of gametes and
have a higher chance of
producing more offspring.
 Mitosis – cell break-
up
Everyone hates a break up, tears, emotions and the
loneliness, BUT CELLS DON’T

NO! Cells loveeee to divide and rely on these constant

breakups to ensure the species they belong to
survive. This break up in particular is called Mitosis –
meaning one cell dividing into two!

This process is one of the fundamental pillars of

biology. Species will only survive if they constantly
replace and repair the cells that make up their body.

But just like break ups, mitosis isn’t the easiest to

understand. Instead of accusations of cheating and ‘it’s
not you its me!’ there’s many different phases that
need to happen in order for 1 cell to become 2.
 Mitosis – cell break-
up
Organisms need an efficient process that passes on the
genetic material that they contain into each new cell
and eventually their offspring.

Mitosis plays a crucial role in the following:

 Growth of a multicellular organism e.g. infant

to adult, relying on more cells and
differentiation
 Repair of tissue and replace old cells
 Asexual reproduction (cloning and
fragmentation)
 Ensuring all cells have the same genetic
information.

A zygote (fertilised egg) starts off as one cell and

 Mitosis – cell break-
up
Cells do have a limit though, once they
become to specialised and form tissue, they
lose the ability to divide by mitosis.
Tissue can only be replaced by stems cells
from that tissue itself e.g. only bone
marrow cells can make red blood cells.

DNA needs to be replicated exactly, so that

every cell has the exact same structure
and functions as the others. Mitosis
involves the DNA within a cell being
replicated as well as the cell dividing into
two.

Mitosis is only one part of what we call the

The cell cycle involves the different phases
that every cell needs to undertake before it
becomes two cells.

G1 – the cell needs to go through bulking

season first, growing everything except the
chromosomes to 2x their original size.

S – synthesis, the diploid cell (46

chromosomes) replicates its chromosomes
(46 to 92)

G2 – proof reading, the cell checks for errors

(more on this later)

M – Mitosis, the nucleus (which has the

duplicated chromosomes) divides (46 each)

Cytokinesis – the cytoplasm divides, the cell

pinches off and creates two identical cells
The cell
cycle
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase. anaphase and

telophase.
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase anaphase and

telophase.

Interphase is the
preliminary step that
occurs during the S
phase of the cell cycle.

DNA replicates in the

nucleus and forms two
identical sets of DNA (we
will cover this soon).
However the DNA is
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase anaphase and

telophase.

Interphase is the
preliminary step that
occurs during the S
phase of the cell cycle.

DNA replicates in the

nucleus and forms two
identical sets of DNA (we
will cover this soon).
However the DNA is
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase anaphase and

telophase.
Prophase is the first of the
main steps. It involves
the DNA coiling and
becoming chromosomes.
Each of the chromosomes
contains two copies of
the DNA (called sister
chromatids).

The nucleus begins to

break down and spindle
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase anaphase and

telophase.
Prophase is the first of the
main steps. It involves
the DNA coiling and
becoming chromosomes.
Each of the chromosomes
contains two copies of
the DNA (called sister
chromatids).

The nucleus begins to

break down and spindle
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase anaphase and

telophase.

Metaphase involves the

chromosomes aligning
along the centre of the
cell, where they attach on
to the spindle fibres.
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase anaphase and

telophase.

Metaphase involves the

chromosomes aligning
along the centre of the
cell, where they attach on
to the spindle fibres.
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase anaphase and

telophase.

Anaphase begins with a cut, the

sister chromatids are cleaved
open and separated. The
chromatids become their own
chromosome that are pulled to
opposite ends of the cell.

Spindle fibres contract and pull

towards opposite poles of
the cell.
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase anaphase and

telophase.

Anaphase begins with a cut, the

sister chromatids are cleaved
open and separated. The
chromatids become their own
chromosome that are pulled to
opposite ends of the cell.

Spindle fibres contract and pull

towards opposite poles of
the cell.
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase anaphase and

telophase.

Telophase occurs when the

daughter chromosomes
gather at each ends of the
cell. The spindle breaks down
and the nucleus reappears.

Mitosis is now complete and you

have two identical nuclei with
chromosomes that are identical
to each other inside the parent
It’s not a phase mum, it’s mitosis!
Like an emotional teenager, mitosis goes through phases.

There are 4 main ones: Prophase, metaphase anaphase and

telophase.

Telophase occurs when the

daughter chromosomes
gather at each ends of the
cell. The spindle breaks down
and the nucleus reappears.

Mitosis is now complete and you

have two identical nuclei with
chromosomes that are identical
to each other inside the parent
 Cytokinesis is the final part of the cell cycle. The

Cytokinesis
cytoplasm begins to divide and this causes each
nuclei to be within its own cell. The cytoplasm in animal
cells pinches off and then the membrane sounds the

– the last two cells. In plants, a cell plate forms between the cells
and cellulose is deposited the form the two cells (that
stay connected). This is critical to finish the process and
divide produce two identical cells. The cells then enlarge
and repeat the process over again.
Anaphas
e
Anaphas
e Metaphas
e
Interphas
e Prophase Telophase
Anaphase Cytokines
is
 Meiosis – Gamete
creation
They may sound the same, but Mitosis and
Meiosis are both very different processes.
Mitosis occurs in all cells and results in
genetically identical daughter cells.
Meiosis is different, the function of
meiosis is to create gametes, males =
sperm, females = ova. This occurs in both
plants and animals, within the sexual
reproductive organs. This process ensures
that only half the genetic material from
each parent is received (for sexual
reproduction).
Each parent produces haploid gametes
that are fused together to form diploid
zygotes.
Processes in Meiosis
(I)
Meiosis begins much the same as Mitosis. We call this
process Meiosis I
Meiosis I: In prophase I, the DNA in each of the cells are
replicated and exchange some segments (this will come
up in more detail later). The nucleus breaks down and the
spindle forms (just like mitosis).
Metaphase I is where the chromosomes arrange
themselves along the centre of the cell in homologous
pairs. Anaphase I results in the breaking of the
homologous chromosomes and they move towards each
end of the cell. The cell moves into telophase I where the
cell forms a nucleus and cytokinesis means the cells
cleave and form two daughter cells.
However the main difference is that although these cells
have each a set of chromosomes, they are NOT
genetically identical like in Mitosis.
Processes in Meiosis
(II)
The next step in what we call meiosis II (2). We start
off with the two non-identical daughter cells from
Meiosis I
Meiosis II: In prophase II, the nucleus breaks down and
the spindle forms (just like mitosis).
Metaphase II is where the chromosomes arrange
themselves along the centre of the cell. The sister
chromatids are not identical. Anaphase II results in the
breaking of the chromosomes and they move towards
each end of the cell. The cell moves into telophase II
where the cell forms a nucleus and cytokinesis means
the cells cleave and form two daughter cells (each).
The process creates four gametes (daughter cells)
that are all haploid (half the DNA needed). They are
genetically different to each other and to the
parents.
 Mitosis and Meiosis Venn Diagram
- Aim: to compare the processes of mitosis and Meiosis

Think about the two processes that we have looked at last

term – recap yourselves on them if you need to.

Using the A3 sheets of paper, compare the similarities and

differences by constructing a VENN DIAGRAM.

Venn diagrams are scientifically proven to help you

remember concepts and ideas.
 Sugar
phosphate
backbone
Complimentar
y bases

Adenine

Base

Thymine

Guanine

Cytosine
We have looked at how cells replicate, but an important part we skipped
was how DNA replicated to achieve both Meiosis and Mitosis. To first
understand this, we need to know where DNA is.

Chromosomes are located within the nucleus of EVERY cell (except

gametes). Depending on the organism, 46 for humans. Chromosomes
contain histone proteins that the DNA are wrapped around. When we
look at them closer, we see the actual strands of DNA.
 D to N to A – DNA!
But what is DNA
actually?
DNA is the backbone of Modern
Biology, it contains all of the genetic
information that cells need to
survive. Early in the 20th Century,
scientists conducted experiments that
showed that DNA controlled the
functions of proteins within cells
and therefore had to be the basic
structure of living organisms.
Over the next few decades, more
scientists would come forward and
contribute more to our understanding This vial contains the first observations of
of DNA, with the main concern inquiry DNA by Friedrich Miescher. He noticed a
substance that was left over in sperm when
question, what is the structure of
he dissolved the liquid, this would come to
Deoxyribonucleic acid (DNA)? be known as the nitrogenous bases
The Oswald-
Avery
experiment
showed that
DNA, not
proteins,
were the
hereditary
source within
cells (the
thing that
determined
what is was
came from
DNA not
proteins)

You do NOT
need to
DNA structure – a
complex story
At the time there were many scientists who were
working on DNA models and structure. There was
confirmation that DNA was made up of some sort of
bonds between polymers, but how it was
arranged was unknown. Rosalind Franklin was a
scientist working in London who used X-ray
diffraction to demonstrate the helical shape of DNA,
but this was only noticed by James Watson, an
American scientist.
The shape showed two strands and other information
was added that created the ‘double helix model’ that
we know of today. Watsons workmate Francis Crick
improved on the model with him and took Franklins
idea of an exterior sugar-phosphate backbone.
 The nitrogenous bases were
DNA structure – a well known at the time and
soon enough both Watson and

complex story
Crick received the Nobel prize
when they constructed and
published their double helix
model of DNA.
This was crucial in our
understanding of how DNA
works. By having a 3D model,
scientists were then able to
under how DNA was
constructed, replicated and
understand more about the
functions.
The pair then worked on
models for replication,
something that has changed
very often over the past 100
years, but we will get to that.
First, let’s understand the
structure of DNA!
The double
helix model
of DNA
There are many
different images and
diagrams of what DNA
looks like, chose the one
that you can understand
the best!
The double
helix model
of DNA
There are many
different images and
diagrams of what DNA
looks like, chose the one
that you can understand
the best!
The double
helix model
of DNA
There are many
different images and
diagrams of what DNA
looks like, chose the one
that you can understand
the best!
 The double helix structure shown here
is the currently accepted model of
DNA. We are going to try and
understand all of the different
parts of the model

Let’s start with some structure.

The two outside backbones are called the

sugar-phosphate backbone. They run in
anti-parallel and twist as they go along the
DNA chain in a helix shape – hence the
name double helix model. They are made of a
phosphate group and sugar unit that are
bonded together in alternating format (see
the image on the right).
They form the spine of the DNA and allow it
to maintain its structure and shape, they also
play an important role in replication .
The double helix structure shown here
is the currently accepted model of
DNA. We are going to try and
understand all of the different
parts of the model

The anti-parallel comes from the

numbers you see on the end.

The 3’ (prime) end and the 5’

(prime) ends.

They run opposite to each other, with

one going 5’ to 3’ and the other 3’ to
5’
 The double helix structure shown here
is the currently accepted model of
DNA. We are going to try and
understand all of the different
parts of the model

The second part of our DNA are our

nitrogenous bases. These form the main part
of DNA and are one of 4 types; Thymine,
Adenine, Cytosine or Guanine.

They form the actual components of DNA that

code for the proteins that make up our
functioning. The bases are ALWAYS found in
pairs and only in two combinations – Adenine
(A) with Thymine (T), Cytosine (C) with Guanine
(G).

A – T (Apples grow on trees)

 The double helix structure shown here
is the currently accepted model of
DNA. We are going to try and
understand all of the different
parts of the model

These base pairs run in-between the

strands and are chemically bonded to
each of the strands. They are also
bonded to the base on the other strand (A
to T, G to C) by a weak hydrogen bond
(this is important).

A nucleotide is when all three are

together – sugar + phosphate +
nitrogenous base (1). The image on the
right shows the different components of
our DNA. The base is always bonded with
the sugar.
 The double helix structure shown here
is the currently accepted model of
DNA. We are going to try and
understand all of the different
parts of the model

These base pairs run in-between the

strands and are chemically bonded to each
of the strands. They are also bonded to the
base on the other strand (A to T, G to C) by a
weak hydrogen bond (this is important).

A nucleotide is when all three are together –

sugar + phosphate + nitrogenous base
(1). The image on the right shows the different
components of our DNA.

And that is the structure of DNA! Only with

Watson and Crick model would we be able
 The double helix structure shown here
is the currently accepted model of
DNA. We are going to try and
understand all of the different
parts of the model

Adenine and Guanine are known as the

purines whilst Thymine and cytosine are the
pyrimidines.

When A-T are bonded,

they have a double
hydrogen bond (as
shown in the image.

G – C bonds have a
triple hydrogen bond.
 What are genes?
How do they relate to DNA
and Chromosomes?

A gene is a section of DNA. It can span

thousands or millions of bases and aligns to a
certain trait by creating specific proteins.

The currently accepted theory is – One gene =

one protein

Genes are related to phenotype, the physical

characteristics that an organism exhibits.
Scientist(s Contribution to DNA and Image
) structure
Phoebus Discovered DNA and RNA are
Levene composed of nucleotides –
(1919) one base, one sugar and one
phosphate

Erwin Calculated that the amount of

Chargaff adenine (a) = amount of
(1950) thymine (t) and that the
amount of guanine (g) =
amount of cytosine (c) –
Chargaff's rule
Scientist(s Contribution to DNA and Image
) structure
James Discovered the hydrogen
Creeth bonds that bond the
(1947) complimentary bases together

Rosalid Produced the image of the x-

Franklin ray diffraction pattern of DNA
(1952) – showing the double helix
structure
Scientist(s Contribution to DNA Image
) and structure
Watson and Watson and Crick used all
Crick (1953) the established research
and information to
develop the 3D model of
the DNA structure that
included:

- Double helix shape

- Antiparallel
- Complimentary bases
- Hydrogen bonds
- Sugar-phosphate
backbone
But what about RNA, DNA’s
younger annoying brother?

RNA is also important in the next few weeks of work.

Chromosomes contain DNA, sometimes 249 million
base pairs (A-T/G-C).
RNA is a single strand version of RNA and contains
ribose rather than deoxyribose. It can be found in the
nucleus and cytoplasm. RNA also has the base
Uracil (U) instead of thymine (T).
RNA serves a number of roles: messenger RNA
(mRNA) carries information from DNA to be taken
into the cytoplasm for polypeptide synthesis (we will
get to that). Ribosomal RNA (rRNA) brings mRNA
and tRNA together. Transfer RNA (tRNA) assists in
translating the mRNA message into proteins (we will
get to this).
 These two
options are
mislabelling the
phosphate and
sugar
We know it can't be
this option as the
top part shows a
triple bond (C to
G).

The double bond

must be A to T and
therefore could
only be Adenine or
Thymine
These two
options are
mislabelling the
phosphate and
sugar
 Replication
Time! DNA
double
DNA replication is fundamental to
both cell replication and
organisms surviving. Without
accurate cell replication, cells don’t
have the same functions and
organisms simply don’t survive.
The Watson and Crick model
allowed scientists to understand
how replication worked and
simulate the process. The double
helix model shows what is needed for
DNA, and further research found how
DNA can replicate to a near perfect
accuracy.
This process happens prior to Mitosis
and Meiosis. Watson and Crick
believed that since DNA was a double
strand, that the two strands could
simply unwind and create two
daughter strands.
At the time, there were quite a
few different models of how this
process happened. The
conservative model showed that
DNA replicated after that and then
again where only one of the 4
DNA strands was related to the
parent. The dispersive said that
all further strands were a mix. But
eventually, after more research,
the model that scientists decided
upon was the semi-
conservative model.

This illustrates that the two

daughter strands each have one
strand from the parent and then
after the second cycle only half
the ‘children’ have a strand. One
old strand that is used
(conserved) and one new
strand that is attached on.
Model 2 is the
accepted
model; each
new DNA
strand gets
one strand
from the
original
DNA Replication – Simple
sequence

First, let’s understand DNA replication

on a simple level.
The first part if the ‘unwinding’ of
the double helix. The strands spilt
between the two bases producing two
single strands of DNA. Nucleotides
which are floating around then attach
on to the two separate strands and
reform the sugar-phosphate
backbone. There are now two double
strands of DNA that each contain a
strand from the original parent strand
and a new strand. The two double
helix strands are identical.
DNA Replication – Simple
sequence

1)DNA strand splits

down the middle
2)The nucleotides
attach on to each side
3)There are now two
identical strands of
DNA
DNA Replication – Moderate
sequence

We need to understand the actual

elements that are involved in DNA
replication. The first part involves an
enzyme breaking the weak
hydrogen bonds between the two
strands of DNA – we call this
unzipping the strand.
The two strands are now free
floating and have opposite bases
to each other e.g. if one has A A G G
the other has T T C C.
DNA Replication – Moderate
sequence
Following the unzipping, free floating
nucleotides are going to attached onto
the new two strands. This involves an
enzyme that runs down each strand
from the 5’ side to the 3’ side. This
enzyme attaches the complimentary
base pair onto each, as you can see in
the image it adds the same bases that
the other strand gets, G attaches on to C
and the C on to G.
The sugar phosphate backbone is
attached on with the base pairs via a
primer. This creates two identical DNA
strands that each contain a strand from
the parent.
 DNA Replication – Moderate
sequence
Following the unzipping, free floating
nucleotides are going to attached onto
the new two strands. This involves an
enzyme that runs down each strand
from the 3’ side to the 5’ side. This
enzyme attaches the complimentary
base pair onto each, as you can see in
the image it adds the same bases that
the other strand gets, G attaches on to C
and the C on to G.
The sugar phosphate backbone is
attached on with the base pairs via a
primer. This creates two identical DNA
strands that each contain a strand from
the parent.
 DNA Replication – Complex
sequence
Whilst replication may seem simple,
there are many elements that we are
missing that we do need to include.
Let’s go back again to the unzipping.
The bases are held together by a
weak hydrogen bond. To split this,
the DNA uses a protein enzyme
called helicase. This runs along one
of the strands and splits the DNA
double helix using ATP as a catalyst
to break the bonds.
Single-strand binding proteins help to
stabilise the single nucleotides.
 DNA Replication – Complex
sequence
Whilst replication may seem simple,
there are many elements that we are
missing that we do need to include.
Let’s go back again to the unzipping.
The bases are held together by a
weak hydrogen bond. To split this,
the DNA uses a protein enzyme
called helicase. This runs along one
of the strands and splits the DNA
double helix using ATP as a catalyst
to break the bonds.
Single-strand binding proteins help to
stabilise the single nucleotides.
 DNA Replication – Complex
sequence
Once the strand has been broken,
the DNA needs to be synthesised
in order to create two strands. The
two strands are divided, one is
called the leading strand (top)
(simple) and the other is called the
lagging strand (bottom).
Both require the following process;
an enzyme protein called primase
attaches a primer onto each of the
new DNA strand. This primer is a
short RNA strand that is attached
by the primase one nucleotide at
a time. It then travels along from
 DNA Replication – Complex
sequence
Once the strand has been broken,
the DNA needs to be synthesised
in order to create two strands. The
two strands are divided, one is
called the leading strand (top)
(simple) and the other is called the
lagging strand (bottom).
Both require the following process;
an enzyme protein called primase
attaches a primer onto each of the
new DNA strand. This primer is a
short RNA strand that is attached
by the primase one nucleotide at
a time. It then travels along from
 DNA Replication – Complex
sequence
For the leading strand, once ONE primer
has been added, a new protein called
polymerase goes along the strand from 3’
to 5’ side adding the required
complimentary nucleotides, A to T (vice
versa) and G to C (vice versa). The leading
strand then has all the requirements and
creates a new strand of DNA.
The lagging strand requires a bit more,
because the polymerase cannot go from 3’
to 5’ it requires constant primers that are
made by the primase, going AWAY from the
fork, look at the image, on top (leading) the
pol works from left to right, whilst on the
 DNA Replication – Complex
sequence
The process for the lagging
strand is done in
segments, called Okazaki
fragments. These are
primed by primase and
then the polymerase goes in
along the primer and adds
about 100-200
nucleotides before going
on to the next fragment
(always in the 3’ to 5’
direction).
The polymerase goes along
each of the fragments
 DNA Replication – Complex
sequence
The last step involves the last
protein, DNA ligase. Ligase
runs along the lagging strand
and fixes up the gaps
between the fragments,
making a smooth DNA strand
that contains no errors. It
also runs along the leading
strand to ensure it has no
errors either.
The two strands are now
identical, they both contain
one strand from the parent
and a synthetic strand. They
Let’s summarise:

1) Helicase unwinds the DNA splitting the

hydrogen bonds between bases.
2) Single-stranded binding proteins keep
the bases stable.
3) We have a leading and lagging strand

Leading strand
4) Primase creates a primer on the leading
strand
5) DNA polymerase (III) comes along
adding nucleotides to create a new
strand of DNA (5’ to 3’)

Lagging strand
6) Primase continually creates primer
segments (RNA) along the strand
7) DNA polymerase uses the primer to add
nucleotides onto each of fragments
until the strand is complete
8) DNA ligase goes along the lagging
strand and seals the gaps between the
Protein Function
Helicase Unwinds the parental double
helix
Single- Stabilises single stranded
strand DNA
binding
protein
Primase Synthesises RNA primer at
5’ end of leading strand and
5’ end of each Okazaki
fragment

DNA Uses parental DNA as

polymerase template and synthesis new
DNA strand by adding
nucleotides to primer/strand

DNA ligase Joins Okazaki fragments of

lagging strand together
These both have U, so
already we know that
they are RNA not DNA
These both have U, so
already we know that
they are RNA not DNA

A and G don’t go
together, neither
do T and C
 Do Now
Explain the relationship
between DNA replication and
the cell cycle (3 marks)
Hint
 Do Now
Explain the relationship between DNA
replication and cell (3 marks)

DNA replication is an essential component

within the cell cycle. Before the cell divides
DNA replication must occur. The two
daughter need to contain the exact same set
of DNA in order to be identical – the function
of the cell cycle. The two cells can only form
Accuracy and
Replication – look
mum I’ve got no
fingers!
DNA replication needs to be
accurate, therefore it requires
such a complex process. Genetic
material needs to be transmitted
from cell to cell and
generation to generation. Not
only this, but the instructions
that relate to gene expression
also need to be given properly.
If your skin cells received the
same instructions as your nerve
cells than your body wouldn’t be
able to work properly. Although
enzymes can repair and fix up
errors, sometimes they do get
through.
 To the repair
station!
These errors can be fixed. An
incorrect base may be
inserted by polymerase II so it is
the function of polymerase I to
go over the strand and replace
it with the correct base.
If the error is not fixed, then it
may become permanent in the
next replication and cause an
error within the organisms.
These errors are also important
with gene expression.
This relates to which genes are
activated in each different type
of cell related to their proteins.
 The last part of our inquiry question requires use to assess the effect
of the cell replication processes on the continuity of species.
This idea means that species will only survive when they have
Continuity the correct characteristics passed down to offspring from
parents – genetic stability. Occasional variation is fine as this allows

of Species for evolution. There needs to be a balance between the two.

Cells need to divide successfully and accurately to have the same
functions. Organisms that breed need to produce offspring with the
same amount of genes and ones that will not have negative effects.
Sexual reproductive species allow for more genetic diversity and
maintaining species through diverse populations.
Continuity
of Species
Mitosis and Meiosis
- From the point of fertilisation, an entire organisms DNA set (genome) is determine and
permanent. In mitosis, it is essential that daughter cells are always identical to ensure
functional proteins and a functioning organism.
- In meiosis, cellular division always introduces genetic diversity which is essential for
the survival of the species.
- Therefore both mitosis and meiosis are essential for continuity of sexually producing
organisms.
- Individual level = mitosis = same genetic information for repair and growth
- Species level = meiosis = genetic variation for species evolution and survival
Now that we have DNA,
how do we actually use it?

Our next inquiry questions let’s

us understand how we use DNA
and turn it into different
physiological and behavioural
traits.
First, we will need to understand
where DNA exists and then how
we use DNA to maintain
functions within cells.
 DNA in Prokaryotes
DNA exists as the universal code
for living things – meaning all
living things require the same
structure of DNA to exist.

Whilst all organisms contain DNA

and the 4 bases, they can also
exist in different formats.

DNA is chemically the same in both

Prokaryotes and Eukaryotes but
the
structure is different.
 DNA in Prokaryotes
In prokaryotes DNA exists as a single
chromosome in the shape of a circle
(single strand). This strand has no
membrane around it and floats in
the nucleoid (within the cytoplasm).

There is no double helix, but two

circles of single-stranded DNA
twisted around each other. Plasmids
are found separate to DNA, they
have genes that don’t provide
essential functions but extra
processes like anti-biotic resistance.
 DNA in
Eukaryotes

Eukaryotic DNA is found in the

nucleus and in separate
chromosomes. These are larger
than the prokaryotic ones and
therefore mean that eukaryotes are
much more complex organisms.
Organisms range in their
chromosomes number but this has
no relevance.
 DNA in
Eukaryotes

Much of eukaryotic DNA is called

introns – non-coding DNA, only 3%
of DNA is coded (exons). It is linear
in shape and wrapped around
proteins called histones. This
process allows DNA is be stored
tightly within the nucleus of cells.
 - Circular
- Contains
plasmid
- Single
- Contains the chromosome
four main - Not wrapped
bases: around proteins
adenine,
thymine,
cytosine and
guanine
- Sugar-
- Arranged in
phosphate
multiple
backbone
chromosomes
- Wrapped around
proteins
- Non-circular
 Mitochondri
al DNA
mtDNA is found in the
mitochondria of cells (there is
also some non-nuclear DNA in
chloroplast). It provides a way of
understanding inheritance as it
passes directly through the
female lineage.
Some of the genes are involved in
cellular respiration and the
electron transport chain.
Other genes are involved in
produced RNA. mtDNA does not
mix during reproduction and
mutates very quickly, benefitting
scientists when looking at
genetics and evolution.
 Proteins are 3D molecules that all serve different
functions within cells such as transport, storage,
Polypeptide hormones, enzymes and receptors. There are thousands of
them, but they are all made from only a group of 20 amino
Synthesis – How acids.

do we actually To build these proteins, cells use a process called

polypeptide synthesis, theorised by Francis Crick, that in
use DNA? turn uses DNA to create proteins. This process is the ‘central
dogma of molecular biology’ where DNA is transcribed into
RNA where it is then translated into Proteins.
 DNA is responsible for making amino acids.

Polypeptide
Amino acids bonded together makes peptides
Synthesis – How
do we actually Multiple peptides makes a polypeptides
use DNA?
Multiple polypeptides form proteins
 Central Dogma of Molecular Biology
Polypeptide
Organisms simply don’t exist without cells, and
Synthesis – How cells don’t function without proteins – the only
do we actually way to build proteins is with amino acids and
the only way to get those amino acids is by
use DNA? using DNA as a form of coding system!
 DNA contains sections called genes. A gene is a strand of DNA
Amino Acids that contains thousands of base pairs (A-T, G-C). These bases
pairs are taken in sets of three (e.g. ATG) called codons.
and Codons each match up to a particular amino acid. When these
Polypeptides amino acids are put together (in different combinations), they
create a ‘polypeptide chain’ that twists together to create the 3D
shape of a protein.
 DNA contains sections called genes. A gene is a strand of DNA
Amino Acids that contains thousands of base pairs (A-T, G-C). These bases
pairs are taken in sets of three (e.g. ATG) called codons.
and Codons each match up to a particular amino acid. When these
Polypeptides amino acids are put together (in different combinations), they
create a ‘polypeptide chain’ that twists together to create the 3D
shape of a protein.
 DNA contains sections called genes. A gene is a strand of DNA
Amino Acids that contains thousands of base pairs (A-T, G-C). These bases
pairs are taken in sets of three (e.g. ATG) called codons.
and Codons each match up to a particular amino acid. When these
Polypeptides amino acids are put together (in different combinations), they
create a ‘polypeptide chain’ that twists together to create the 3D
shape of a protein.
 Let’s say that we have just had a cut and bled out a lot of blood.
Amino Acids The body now needs to make more red blood cells which
contain a protein called haemoglobin.
and This protein is made of 4 polypeptide chains, so the cells in our
Polypeptides bone marrow need to use 4 genes to be able to produce the
protein.
Amino Acids The cells take the specific genes that can be found on the
different chromosomes (16 and 11) shown below. This sequence
and of DNA then codes for the correct polypeptide sequences
needed to make the protein!
Polypeptides Just like baking a cake
Polypeptide synthesis – the process!
Let’s imagine that DNA is a cook book in a library. You
can’t take the book home but you need to information
to make a cake!
So instead you take it to the photocopier and
photocopy what pages that you need for that specific
cake. The photocopy does look a little bit different
but it contains all the info that you need.
Once the cook book is home, you give it to your
partner who reads through it and makes the cake.
Yum, delicious!
Polypeptide synthesis – the process!
This is exactly how polypeptide synthesis works!
DNA cannot leave the nucleus so a photocopy of
the DNA is made – something we called mRNA
through a process called transcription. This mRNA
takes only one copy of the base pairs but has all
the necessary information.
The mRNA is taken out of the nucleus (taken out of
the library) and to a ribosome (partner at home).
The ribosome translates the mRNA into a protein!
(cake)
Polypeptide synthesis – the process!
 There are three main
rRNA, mRNA and tRNA – the versions of RNA that
three horsemen of genetics! involved in transcription and
translation (polypeptide
synthesis). They are found
Nucleic Structure and role
Acid
below.

mRNA Single stranded, made of a few thousand bases, and carries

(messenger information from DNA to the ribosomes in the cytoplasm. It
) contains the base Uracil (U) instead of thymine (T).
tRNA Found in the cytoplasm, contains 75 nucleotides and shaped
(transfer) like a T. They contain three unpaired bases at one end called
an anticodon which attaches to the complimentary on the
mRNA strand. The other end attaches with only one type of
amino acid.
rRNA Structural part of the ribosomes
(ribosomal)
Nucleic Acid Structure and role

mRNA Single stranded, made of a few thousand bases, and carries information from DNA to the
(messenger) ribosomes in the cytoplasm. It contains the base Uracil (U) instead of thymine (T).

tRNA Found in the cytoplasm, contains 75 nucleotides and shaped like a T. They contain three
(transfer) unpaired bases at one end called an anticodon which attaches to the complimentary on the
mRNA strand. The other end attaches with only one type of amino acid.

rRNA Structural part of the ribosomes

(ribosomal)
 Polypeptide synthesis
– a simple method
Goal: use DNA as a code to create
proteins

Step 1 – A copy of the DNA is

photocopied from the DNA in the
nucleus
Step 2 – The photocopy is taken away
from the nucleus into a ribosome
Step 3 – The ribosome uses the code to
make a chain of amino acids
Step 4 – The chain combines together
to create a protein

End product: a protein

 Polypeptide synthesis
– a simple method
Goal: use DNA as a code to create
proteins

Step 1 – A copy of the DNA is

photocopied from the DNA in the
nucleus
Step 2 – The photocopy is taken away
from the nucleus into a ribosome
Step 3 – The ribosome uses the code to
make a chain of amino acids
Step 4 – The chain combines together
to create a protein

End product: a protein

Protein Synthesis
– level two!
Goal: to create proteins that
are the basic functions for
living organisms
Step 1 – Transcription: the
specific section of DNA that
needs to be expressed is
identified
Step 2 – Transcription: the
section of the DNA is
transcribed into a copy of
mRNA (a single strand that
only contains the target
DNA)
Step 3 – The mRNA travels
out of the nucleus and
towards a ribosome
Protein Synthesis
– level two!
Goal: to create proteins that
are the basic functions for
living organisms
Step 1 – Transcription: the
specific section of DNA that
needs to be expressed is
identified
Step 2 – Transcription: the
section of the DNA is
transcribed into a copy of
mRNA (a single strand that
only contains the target
DNA)
Step 3 – The mRNA travels
out of the nucleus and
towards a ribosome
 Protein
Synthesis –
level two!
Step 4 – Translation: the
mRNA attaches onto the
ribosome
Step 5 – Translation: the
mRNA code is translated into
a one of 20 amino acids by
tRNA using sets of 3 bases
called a codon
Step 6 – The amino acids
combine to create a
polypeptide chain
Step 7 – The polypeptide
chain combines together to
form the 3D structure of the
protein
End product: a protein that is
expressed by the cell
 Protein
Synthesis –
level two!
Step 4 – Translation: the
mRNA attaches onto the
ribosome
Step 5 – Translation: the
mRNA code is translated into
a one of 20 amino acids by
tRNA using sets of 3 bases
called a codon
Step 6 – The amino acids
combine to create a
polypeptide chain
Step 7 – The polypeptide
chain combines together to
form the 3D structure of the
protein
End product: a protein that is
expressed by the cell
 Polypeptide/protein
synthesis – level hard!

Occurring in the nucleus, a certain section

of DNA is selected to be ‘expressed’ (turned
into a protein).
Transcription: RNA polymerase (enzyme)
binds to an expressed section of DNA and
takes floating bases to create a
complementary strand of RNA. The enzyme
uses a ‘promoter’ region to conduct this,
going from 5’ to 3’. This single strand is
called mRNA and has the base Uracil instead
of Thymine (U instead of T).
The DNA unzips during this process and the
template strand is copied. The mRNA is
removed from the nucleus and undergoes
some editing to prepare it for the ribosome!
 This process occurs after the mRNA has been copied. We call
RNA this section pre-mRNA. Like when you bake a cake but
haven’t done the decorations. The two ends are sealed off to
processing help stabilize the mRNA and then splicing occurs where large
portions of the mRNA are cut out (spliced out). This removes
(splicing) the introns (non-coding regions) and ensures that only the
required DNA sections are translated.
 This process occurs after the mRNA has been copied. We call
RNA this section pre-mRNA. Like when you bake a cake but
haven’t done the decorations. The two ends are sealed off to
processing help stabilize the mRNA and then splicing occurs where large
portions of the mRNA are cut out (spliced out). This removes
(splicing) the introns (non-coding regions) and ensures that only the
required DNA sections are translated.
 Polypeptide/protein
synthesis – level hard!

Occurring in the nucleus, a certain section

of DNA is selected to be ‘expressed’ (turned
into a protein).
Transcription: RNA polymerase (enzyme)
binds to an expressed section of DNA and
takes floating bases to create a
complementary strand of RNA. The enzyme
uses a ‘promoter’ region to conduct this,
going from 5’ to 3’. This single strand is
called mRNA and has the base Uracil instead
of Thymine (U instead of T).
The DNA unzips during this process and the
template strand is copied. The mRNA is
removed from the nucleus and undergoes
some editing to prepare it for the ribosome!
 Polypeptide/protein
synthesis – level hard!

Translation: once the mRNA has been

moved into the ribosome, the information
needs to translated into amino acids.
The mRNA chain lines up along the
ribosome, at the same time tRNA (t
shaped) come along and attach on to the a
set of three bases called a codon. The
tRNA contains an anti-codon which is the
complimentary version. The strand only
starts translation after a start codon -
AUG. Then each tRNA which is matched
with an amino acid comes along and adds
another amino acid to the polypeptide
chain (bonded by enzymes). The tRNA
goes to grab another amino acid and
complete the process over and over again.
 Polypeptide/protein
synthesis – level hard!

Translation: once the mRNA has been

moved into the ribosome, the information
needs to translated into amino acids.
The mRNA chain lines up along the
ribosome, at the same time tRNA (t
shaped) come along and attach on to the a
set of three bases called a codon. The
tRNA contains an anti-codon which is the
complimentary version. The strand only
starts translation after a start codon -
AUG. Then each tRNA which is matched
with an amino acid comes along and adds
another amino acid to the polypeptide
chain (bonded by enzymes). The tRNA
goes to grab another amino acid and
complete the process over and over again.
 Polypeptide/protein
synthesis – level hard!

Translation: once the mRNA has been

moved into the ribosome, the information
needs to translated into amino acids.
The mRNA chain lines up along the
ribosome, at the same time tRNA (t
shaped) come along and attach on to the a
set of three bases called a codon. The
tRNA contains an anti-codon which is the
complimentary version. The strand only
starts translation after a start codon -
AUG. Then each tRNA which is matched
with an amino acid comes along and adds
another amino acid to the polypeptide
chain (bonded by enzymes). The tRNA
goes to grab another amino acid and
complete the process over and over again.
 Codon
Chart
You need to memorise this table!
 Codon
Chart
You need to memorise this table!

Kidding

That was a joke

 Codon
Chart
You need to memorise this table!

Kidding

That was a joke

But this table is important. There are

64 possible combinations of the four
bases (in sets of three). Each aligns
to a different amino acid (Pro, Arg,
Thr etc).

The AUG codon is the start and

there are three STOP codons (UAA,
UAG and UGA).

If needed during an exam, this table

will always be provided but make
[Link]
A – Polymerisation is nothing related

B – Cant be replication as it is only

creating a new RNA strand not two
DNA strands

D – There is no tRNA nor is there any

amino acids
Do now
 Genes are ‘expressed’ when the chains/protein that
Gene they code for have been built. Specialised cells
have different genes expressed for their specific
expression purpose. For example, skin cells express the gene
for the protein ‘melanin’.
 Dot point: investigate the structure
and function of proteins in living things
Proteins are critical for
the function of cells
and carrying out the
work.
They control all
chemical reactions and
are made up of amino
acid chains (as we
learnt about).
They can also bind and
change their shape (3D)
Proteins and living to accommodate the
different processes.
things
 Dot point: investigate the structure
and function of proteins in living things
As an essential part of
life, they are made up
of chemical elements
like carbon, hydrogen
and oxygen.
Polypeptide chains link
up to form the structure
of a protein.
The amino acids they
are made of and they
way they are structured
Proteins and living determines their
function.
things
 Protein
structures
Proteins can be represented
in 4 different ways.
Primary, secondary,
tertiary and quaternary.
They work upwards showing
more complexity as they go.
The image here shows the
first two levels, primary and
secondary. Primary
demonstrates linear amino
acids in a peptide chain.
The secondary structure
shows the sequence being
twisted into a helix with
hydrogen bonds (3D).
 Protein
structures
Tertiary demonstrates
the folding of the
different secondary
structures. They show
the interaction with the
environment.
Quaternary structure is
the final form, displaying
different strands bound
together to create a fully
functional 3D protein.
Primary structure = just amino
acids bonded together (peptide
bonds)

Secondary structure = folding of

the amino acids into repeating
patterns (hydrogen bonding)

Tertiary structure = three

dimensional folding of protein

Quaternary structure = protein

Protein Structure Haemoglobin is a
Example – Haemoglobin protein that is found
in blood. It is a 3D
structure that is able
to hold the oxygen
and iron molecules
that are transported
in blood.
This shows the
quaternary structure,
able to hold
molecules inside.
Functions of
Proteins – basically
everything!

As we have learnt, there are hundreds

of different types of proteins and all
differ in their structure, so therefore
also in their function. Proteins always
interact with each other and are
reused by cells over and over.

Structure proteins provide support

through dense by elastic proteins like
the ones found in skin, cartilage, bone
and ligaments. They also make up the
cell cytoskeleton and myosin in
muscles helps to assist movement.
 Functions of Proteins
– basically
everything!

Enzymes are catalysts for cellular function.

They speed up chemical reactions such as
digestion and respiration. They require a
specific shape to fit a specific substrate.
Proteins are found in the fluid mosaic model
such as receptor, channel and transport
proteins. They act as messengers between
cells and help to trigger different reactions in
the body.
Red blood cells require the haemoglobin
protein to transport oxygen. These proteins
can also be used to store molecules in
cells. Sensory proteins help to convert
stimuli into electrical signals.
 Genes to Proteins
Genes are the smallest unit of
heredity. Each gene is a section of
DNA that encodes for a particular
trait that can be passed from
parent to offspring, e.g. skin colour.
The location of the gene on a
chromosome is called the locus.
Genes influence particular
characteristics called phenotypes –
these are structures, functions and
characteristics that we observe on
an individual.
 Genes to Proteins

All of the genes in an organisms cell

is called the genome. Alleles are
what are referred to as the different
forms of the same gene e.g. you
have either have a ‘attached’ or
‘free’ ear lobe. The gene is the ear
lobe shape, the alleles are free they
are dominant (represented through
a capital L) and attached are
recessive (represented a lowercase
l).
Genes, the Imagine this, your parents are superstar
tennis players, they win Wimbledon, the
environment Australian open and every grand slam
and possible.
phenotype? You think that you will just be able to just
Why doesn’t pick up a racket and smash the
inheritance competition!
dictate But no, you suck actually, like really bad
everything? and soon enough you quit.
Why?
Why, if we inherit all of our traits from our
parents, can be different?
That’s because we don’t, not every gene
that you express is the same genes that
your parents express!
 Phenotype is the structural,
Genes, the environment and behavioural and physiology of
phenotype? Why doesn’t an organism. Gene expression
relates to the sections of DNA
inheritance dictate that the particular cell wants
everything? to use.
Variation between organisms
can come about genetically
(nature) e.g. crossing over,
mutations as well as being
influenced by the environment
(nature). The environment can
influence the level of how
genes are expressed in
individuals and scientists use
identical twin studies to do
this.
Identical twins are split up
from birth and over time they
compare how they develop
and change over time.
Genes, the environment and This is caused by
phenotype? Why doesn’t chemicals that control
inheritance dictate gene expression.
everything? Epigenetics is the study of
this process. It’s believed
that understanding this
will lead to further
understanding of the
interaction between the
two!
Transcription factors that
occur when cells
differentiate (after being
stem) can also play a role
in the proteins that are
produced.
Genes, the environment and
phenotype? Why doesn’t Take for example these
flies and butterflies. They
inheritance dictate are genetically identical
everything? (same species) but have
been developed in
different temperatures.
They each have the same
genes but express them
differently, resulting in
different phenotypes that
we can observe.
The phenotype can also
change over time due to
environment, as seen in
the images.
Effect of Environment on Hydrangeas are an
excellent example of the
Genotype – Example: effect of the environment
Hydrangeas on phenotype. Although
they contain the same
genes, when these plants
are placed in different
levels of acidity (soil) they
develop different colours
Acidic = blue, alkaline =
pink
This is an excellent
example that we can test,
have a think about the
variables and controls that
might need to be in place!
Effect of Environment on Hydrangeas are an
excellent example of the
Genotype – Example: effect of the environment
Hydrangeas on phenotype. Although
they contain the same
genes, when these plants
are placed in different
levels of acidity (soil) they
develop different colours
Acidic = blue, alkaline =
pink
This is an excellent
example that we can test,
have a think about the
variables and controls that
might need to be in place!
DNA Methylation – switch on, DNA methylation is a
process of changing gene
switch off expression. This adds a
methyl group to the
nitrogenous bases in DNA.
This process can prevent
transcription of a
particular protein. Higher
methylation = less gene
expression, lower
methylation = higher gene
expression.
This process could be used
in the future to influence
phenotype artificially.
Effect of Environment on
Genotype – Example: Reptile Evolution has some
sex interesting outcomes. In
many reptile species, the
sex of the organism is
determined by the
temperature of the
environment (before
birth).

Temperature changes
(environmental) affect
the development of the
species.
 Genetic
Variation
What causes genetic variation between
and within species?
As we have learnt, all organisms are
different both between species (e.g. a frog
and an elephant) and within species (e.g.
different hair colour between humans.
This is sometimes affected by the
environment, but where does the genetic
variation come from?
There are three main sources of this
variation; meiosis, fertilisation and
mutations!
 Gene Pool
Species share many of the
genetics with each, but no
two individuals share the
exact same DNA* (identical
twins). The gene pool refers
to the groups of different
traits within species, such as
the different coat colours for
horses. This gene pool allows
for a term called variability
within a species.
Individuals aren’t able to
become varied, only
populations and species can
go through those changes.
 Two processes that we have
looked at in detail produce ways
Meiosis and of variation.
When any zygote is created
Fertilisation (fertilisation) you always have a
combination of two unique
individuals, and therefore create
another genetically unique
individual!
This means that whilst you will
always share traits with you
brothers, parents and family,
you are always unique!
Humans can produce
8,388,608 different, genetically
unique gametes.
Meiosis as a function means
variation is always present in
sexually reproducing species,
dependent on the number of
chromosomes.
 Crossing Over
(synapsis)
Recap: during Meiosis the genetic material
is duplicated into two homologous
chromosomes – these are chromosomes
that share the same genes on each of the
sister chromatids at the same locations.
They join up using their centromeres.

During our approach to Meiosis we

mentioned something called ‘crossing
over’. This occurs during meiosis and
involves the exchange of genes between
homologous chromosomes.
 Crossing Over
(synapsis)
Crossing over occurs Meiosis I and following
the chromosomes lining up in pairs (prophase
I).
The process of crossing over means that the
arms of the chromosomes wrap around each
other, breaking and exchanging genetic
material between the paternal and maternal
chromosomes.
This means that not all linked genes (genes
on the same chromosomes) are inherited.
This introduces more genetic variation into
the gametes that are eventually produced!
 Crossing Over
(synapsis)
Crossing over occurs Meiosis I and following
the chromosomes lining up in pairs (prophase
I).
The process of crossing over means that the
arms of the chromosomes wrap around each
other, breaking and exchanging genetic
material between the paternal and maternal
chromosomes.
This means that not all linked genes (genes
on the same chromosomes) are inherited.
This introduces more genetic variation into
the gametes that are eventually produced!
 Crossing Over
(synapsis)
Crossing over occurs Meiosis I and following
the chromosomes lining up in pairs (prophase
I).
The process of crossing over means that the
arms of the chromosomes wrap around each
other, breaking and exchanging genetic
material between the paternal and maternal
chromosomes.
This means that not all linked genes (genes
on the same chromosomes) are inherited.
This introduces more genetic variation into
the gametes that are eventually produced!
 Variation in gamete
production

The stages of meiosis all have different

levels of variation introduced. These
combined create the large array of
variation that occurs in offspring.
Independent assortment means that
every time the homologous
chromosomes line up, which
chromosome from each pair that goes
into a particular gamete is random.
There is no relationship with how the
other chromosomes pair up either.
Here we see an example of the difference
to the gametes that crossing over makes.
When the homologous chromosomes
cross over (share tips) the outcome is
gametes that are ALL genetically unique.

Compare that to the left-hand side in

which there are only 2 different types of
chromosomes.
 Variation in gamete
production

Because the orientation of each

chromosome is random, the combination Here above we see an organism
of chromosomes in the gamete is random with only 3 pairs of homologous
but always contains one of chromosome chromosomes (2n = 6). When
number, this means that the variation their chromosomes line up for
within gametes is increased with more Meiosis, there is eight possible
than 8 million combinations. combinations for how they line
Therefore, a gamete can have more up and therefore increasing the
maternal or more paternal chromosomes number of combinations that
(i.e. more from grandfather / can occur.
grandmother)
Inheritance Patterns – why
are some traits inherited and
some traits not?

The pattern of inheritance has been a cornerstone of

genetics for many years. Scientists have worked to
map out and understand traits being inherited by
offspring. This work is critical for the mechanisms
behind evolution and understanding molecular cells,
proteins and function.

Gregor Mendel (1822 – 1884) was a monk who

wanted to understand the mechanisms behind
inheritance. He used pea plants from the garden
around his monastery to experiment on what traits
would be inherited. The traits would be inherited
independently of each other, allowing for a fair
experiment (basically they would not affect each
other). This garden can still been seen today!
 The following images show some of the traits that Mendel looked at.
Using these, Mendel determined what we know use as ‘Mendel’s laws’.
Pea Plants –
At the time, Mendel thought the two traits would always blend, but found
that this was not true. The pea plants always had two phenotypes for
Mendel’s fav
each of the traits, e.g. the flower colour was always white or purple, the
pop was always green or yellow. By crossing the different pea plants
hundreds of times, he was able to create ‘predications’ for the
outcomes.
Autosomal
recessive
inheritance
Mendel’s model of inheritance
provides us with a way to
mathematically predict the
outcomes of traits and how they
are passed on. They can only
occur under these certain
conditions:
1) The trait/characteristic in the
individual is inherited from
both parents and controlled
by a pair of alleles In this image there are three traits, and for
each traits there are different or sometimes
You can see in the image, every
diploid cell contains paternal and the same allele. You get one from each parent,
maternal chromosomes, for each so this organism would have Tt for the ‘t’ trait,
gene on the locus’ they contain SS for the ‘s’ trait and rr for the ‘r’ trait as its
a dominant or recessive trait. genotype (TtSSrr)
Autosomal
recessive
inheritance
Mendel’s model of inheritance
provides us with a way to
mathematically predict the
outcomes of traits and how they
are passed on. They can only
occur under these certain
conditions:
2) Alleles are passed from one
generation to the next in set
ratios
3) The alleles in an individual may
be the same (homozygous,
pure-breeding) or different
(heterozygous, hybrid)
Homozygous would be
(TT,tt,RR,rr,GG,gg) and
heterozygous (Tt,Rr,Gg)
Autosomal
recessive
inheritance
4) In hybrid organisms
(heterozygous) the
expressed trait is the
dominant allele and the
hidden trait is the recessive
allele. Recessive traits are
only expressed when the
recessive is homozygous
For example, Huntington's
disease has a dominant allele
and a recessive allele. If you get
one of the dominant, you have
the disease, but if you are
homozygous recessive, you
don’t have the disease.
This is known as the Law of
Dominance (Mendel's first law).
Autosomal
recessive
inheritance
5) During meiosis, the pair alleles
for a trait segregate (separate)
and each gamete only receives
one allele for the trait/gene
This is Mendel’s law of
segregation, it means that when
organisms produce gametes, they
allocate one allele to each gamete,
meaning that there is differences
in the genetic make up of each of
the gametes.
Take for instance the pea plant pod
colour, if the pea plant was
homozygous green (GG) then
both would have the G alleles. If the
pea plant was heterozygous
green (Gg) then the plant would
produce G allele gametes and g
allele gametes.
Autosomal
recessive
inheritance
6) When studying inheritance of
more than one trait, alleles of
each trait separate
independently of other pairs
This is Mendel’s law of
independent assortment. This
means that the allele for one
gene that is inherited, does not
affect the alleles for other genes
that are inherited as well.
This goes into something called
‘dihybrid crosses’ where
organisms produce 4 different
types of gametes for two
separate traits, showing the
higher variety of outcomes.
Autosomal
recessive
inheritance
6) When studying inheritance of
more than one trait, alleles of
each trait separate
independently of other pairs
This is Mendel’s law of
independent assortment. This
means that the allele for one
gene that is inherited, does not
affect the alleles for other genes
that are inherited as well.
This goes into something called
‘dihybrid crosses’ where
organisms produce 4 different
types of gametes for two
separate traits, showing the
higher variety of outcomes.
 Terminology Summary

Don’t forget, the phenotype can also be affected by the

environment, these laws are only under certain conditions.
 How did Mendel come to these
conclusions? – Cross-city
In order to determine these rules, Mendel used
the pea plants as stated before.
He cross bred them, using the phenotypes to
identify what their genotype was, he crossed
them together to predict the outcomes. He
looked at stem height (tall or short), pod shape
(inflated or constricted), shape of seeds (round
or wrinkled) and many others.
They all followed the 6 rules that we just
looked at and we use the alphabet to ensure
which is dominant and recessive.
In order to cross them, he carried out a
monohybrid cross (meaning a hybrid
created, based upon observations of one trait).
 When hybrids meet,
they produce the
Monohybrid crosses same genotypes
and phenotypes as
their parents

The images here show the type of crosses that

Mendel performed. He was able to use pure-
bred tall and short pea plants.
They each produced one type of gamete (T or t)
and then he fertilised the gametes together. In
the first offspring generation (F1) all of the
offspring have the same genotype (Tt) and
same phenotype (Tall) as the tall allele is
dominant.

He then took two of the offspring and cross bred

them, producing a whole different outcome, 3
genotypes (TT, Tt & tt), 2 phenotypes (Tall,
TT/Tt and short, tt).
Mendel’s Laws are like Mr
Cefai’s jokes - timeless

Amazing as it is, Mendel discovered all of this without even knowing about
chromosomes or genes. These rules still apply to many concepts today.

Dihybrid crosses allowed Mendel to establish his second law, understanding that
traits establish separately from each other. For instance, a yellow short plant crossed
with a green tall plant could produce yellow tall plants and green short plants. This
applies to the thousands of genes/traits in organisms all across the world.

Sex chromosomes were also unknown to Mendel at the time. We now understand
how they determine the sex of individuals, e.g. the X and Y chromosome in humans.
We also now know that there isn’t just two alleles for a gene/trait. For example
eye colour, there is many more than just two types – blue, brown, green, yellow
Individuals can only ever have two alleles (as we are diploid organisms)
meaning one from Dad and one from Mum.
Problem solving using Mendel
– Punnett squares

Punnett squares can be used for a

number of things, with the general idea
being to calculate the probabilities of
the offspring and what alleles they
will likely inherit.

Punnett squares use the parents on the

outside of the square, and the possible
types of offspring inside of the square.

These can then be used to determine

both genotype and phenotype.
Problem solving using Mendel
– Punnett squares

Punnett squares give us statistics, for

instance ratios; in this example 50% are
heterozygous for green and 50% are
homozygous recessive for yellow.

In reality, it doesn’t always fit the statistics

(but gets more accurate the more you do). For
example, when Mendel was looking at height,
he got 787 tall : 277 short plants (2.84:1)
compared to the expected 3:1 outcome.
Most crosses between hybrids (such as in the
image) produce a 3:1 or 75%:25% ratio –
75% are dominant (purple) and 25% recessive
(white)
Problem solving using Mendel
– Test cross

We can use Mendel’s approach to solve many problems (*skills*) and

understanding certain concepts. One of those is a test cross.
Have a look at the purple plant here, it’s carries at least one of the
dominant alleles for purple (P) but how do we know whether it’s PP
(homozygous) or Pp (heterozygous)?

Think about what we could do?

Problem solving using Mendel
– Test cross

We can use Mendel’s approach to solve many

problems (*skills*) and understanding certain
concepts. One of those is a test cross.
Have a look at the purple plant here, it’s carries
at least one of the dominant alleles for
purple (P) but how do we know whether it’s PP
(homozygous) or Pp (heterozygous)?

We can do a test cross!

Test cross’ involving using the unknown (P_)
and crossing against a recessive homozygous.
You can then compare the outcomes of the
offspring against the predicted offspring
Problem solving using
Mendel – Test cross

Drosophila are fruit flies that are commonly used in genetics. Their wing
length is determined by a single gene – normal (long) is dominant V,
whilst short (vestigial) is receive v.
We can use the test cross, and Mendel’s expected ratios to predict the
outcome
If all offspring have long
wings, then we know
the parent is
homozygous dominant.
If there are some with
short wings then we
know the parent is
heterozygous dominant
Have a go at this one yourself (use the blank page
on the back of the worksheet to do your working
out)
Deviations to Mendelian As the world of
genetics advanced, so
Genetics – Gregor was did our understanding
sometimes wrong! of inheritance. In
particular, many
exceptions to
Mendel’s rules were
also discovered.
We are going to look
at a number of these;
incomplete
dominance, co-
dominance, sex
linkage and multiple
alleles.
Incomplete
dominance –
mixed bag
As with traditional Mendelian genetics,
heterozygotes display the dominant
phenotype. Within incomplete dominance,
heterozygotes display an intermediate
(blending) between the two phenotypes
rather than the dominant.
This is really easy to see in flowers such as
the ones shown here. Their colour C is
determined by two genotypes CR and Cf.
When they are homozygous, they display
either red or white, but rather than have
one more dominant over the other, the
heterozygotes display pink
(intermediate).
This is the reason why the letters are not
shown as the traditional upper case and
lower case.
Incomplete
dominance –
mixed bag
Snapdragons, a pant type,
works exactly the same. You
can see the genotypes for the
parents (P) and they are red
and white.
The offspring are all the same
genotype and phenotype (pink).
When they are cross bred,
they produce all three
genotypes and phenotypes.
A ratio of 1 : 2 : 1
Incomplete
dominance –
mixed bag
Snapdragons, a pant type,
works exactly the same. You
can see the genotypes for the
parents (P) and they are red
and white.
The offspring are all the same
genotype and phenotype (pink).
When they are cross bred,
they produce all three
genotypes and phenotypes.
A ratio of 1 : 2 : 1
What does Hannah
Montana and Miley
Cyrus – BEST OF
BOTH WORLDS -
have to do with co-
dominance?
Co-dominance –
Best of both worlds!
Co-dominance is another
variation in which the
species displays BOTH
dominant traits are
expressed at the same
time.

This is the case in many

where both of the alleles
are taken and expressed
from the parents.
Co-dominance –
Best of both worlds!
An excellent an example of
codominance are roan
cows. There is a dominant
allele for both red (brown)
and white coats of fur.

When crossed, they

produce roan cows – ones
that have parts red and
parts white!
Co-dominance –
Best of both worlds!
An excellent an example of
codominance are roan
cows. There is a dominant
allele for both red (brown)
and white coats of fur.

When crossed, they

produce roan cows – ones
that have parts red and
parts white!
Co-dominance –
Best of both worlds!
Blood groups
Human blood has different
proteins on their surfaces.
The blood type is
determined by 3 alleles; IA
IB and I
IA IB are both dominant to I
IA and IB are co-dominant to
each other.
 A) There is no mention about the sex of the
individual therefore cannot be sex linked

B) Autosomal dominant would mean the

heterozygous individuals would have NO receptors

C) Autosomal recessive would mean the

heterozygous individuals would have SUFFICENT
receptors

D) Is correct, because the test says that

heterozygous people have ‘insufficient receptors’
mean they have some, but not enough (an
Multiple alleles – two’s a
couple, but three’s a
crowd
The last variation for us to look at is
called multiple alleles. Within a
population, there may be three or
more alleles for a single trait – called
multi-allelic. For example, we have
three alleles for blood type; A, B, and
O.
Multiple alleles are shown using
subscripts (IA) and can interact
through codominance and
incomplete dominance. On CANVAS,
you’ll look at two examples and how
they interact.
 Coat colour in rabbits is
determined by the C gene.
The C gene has multiple allelic
forms that lead to varied
phenotypes.
The different phenotypes for coat
colour in rabbits are Wild type
(brown), chinchilla (black tipped
white fur), Himalayan (white fur
with black paws, nose, ears and
There are more alleles, and therefore more combinations.
tail) and albino.
• The brown C allele is dominant over the other three alleles
• The cch (chinchilla) allele shows incomplete dominance over Himalayan and
albino alleles
• The ch (Himalayan) allele shows dominance over the albino allele (c)
Girls just wanna have As we have learnt, there are
fun, and boys just wanna many variations to Mendel’s
have genetic diseases laws and these can have an
impact on the phenotype of
Sex-linked inheritance offspring.
Some genes do not always
follow the law of
independent assortment,
such as sex-linked
inheritance. This means
that females experience
different ratios of certain
traits to men and vice
versa.
 When meiosis occurs, 22
Girls just wanna have autosomes (chromosomes) plus
fun, and boys just wanna the sex chromosome are
have genetic diseases passed down from the parents.
From the mum (maternal) it is
always X as all females have XX
Sex-linked inheritance as the two sex chromosomes.
When the father (paternal) pass
down their DNA, they pass on 22
autosomes plus EITHER the X
or the Y chromosome from their
genome.
This means that having children
always has a 50/50 shot of being
male or female. We can prove
this using the punnet cross
(shown here).
Sex chromosomes
The sex chromosomes usually carry the However, sometimes they
characteristics that make men
different to women, e.g. sex organs, carry other alleles that mean
puberty, hormones etc. Any genes that that the two sexes
are located on the sex chromosomes are experience differences.
sex-linked.
Genes associated with many
traits are located on the
human X-chromosome,
including many human
diseases. The Y
chromosomes only carries
the ‘maleness trait’, there
are no corresponding alleles
Sex chromosomes

Above: The male Y chromosome, it

carries the testes determining factor
(hence men having testes)

Left: The X chromosome (in both men

and women) can contain a whole range
of diseases including haemophilia and
Duchenne muscular dystrophyy.
Thomas Hunt Morgan
discovered this process
using the drosophila
flies. He looked at eye
colour, red dominant to
white.
When he conducted his
usual test crosses, he
discovered that the
phenotypes didn’t fit
the usual 3:1 ratio?

The cause: there was a

link between the sex of
the fly and the
phenotype outcomes.
This demonstrates the
importance of statistics
in Science!
Sex-linked example: colour-
blindness
The genes for red-green colour vision are
carried on the X chromosome. A mutant
form of the allele results in the inability to
distinguish between red and green.
The gene is recessive, however if it has no
other allele (due to a Y chromosome) then it
will automatically become the dominant!
This means that when a carrier produces
offspring with a normal vision individual,
there is a chance their child has the
colourblind allele and therefore expresses
the colourblind trait.
Sex-linked example: colour-
blindness
The genes for red-green colour vision
are carried on the X chromosome.
A mutant form of the allele results in
the inability to distinguish between red
and green.
The gene is recessive, however if it
has no other allele (due to a Y
chromosome) then it will
automatically become the
dominant!
This means that when a carrier
produces offspring with a normal vision
individual, there is a chance their child
has the colourblind allele and therefore
expresses the colourblind trait.
Sex-linked example: colour-
blindness

If a male inherits a recessive

allele from his mother, he
will display the recessive
phenotype.
A male with the recessive
allele can only pass this
on to his daughters, not
sons! Therefore it is rare for
females to display recessive
X-linked traits, but higher
chance for males.
Sex-linked example:
haemophilia

Another example is haemophilia, a

disease that causes excessive
bleeding. It affects the gene encoding
factor VIII (blood clotting).
It is also carried on the X
chromosome and features the
following inheritance patterns (shown
in the images).
Due to the gene being sex linked,
males are much, much, much more
likely to contradict it, whilst women
are likely to be carriers (as they will
likely have the dominant allele). Most
women that do happen to get both
recessive will usually die before birth.
Sex-linked example:
haemophilia

Your turn!
Using a Punnett square,
determine the ratios for
the offspring of a carrier
female mating with a
normal male
Xh for the recessive
haemophilia allele
XH for the dominant non-
haemophilia allele
Y for the male chromosome
Sex-linked example:
haemophilia

Your turn!
Using a Punnett square,
determine the ratios for
the offspring of a carrier
female mating with a
normal male
Xh for the recessive
haemophilia allele
XH for the dominant non-
haemophilia allele
Y for the male chromosome
Sex-linked example:
haemophilia

This is what the pedigree of a

sex-linked recessive disease
looks like.
• More males than females
affected
• Affected sons usually have
unaffected mothers (skips
generation)
• All daughters of affected men
are carriers
• Never father to son passed on
Sex-linked example: dominant

Although rare, there are some examples of

X-linked dominant.
Rickets is a genetic disease that causes a
lack of vitamin D uptake and can cause
bone and development issues. It is carried
on the X chromosome and is dominant.
Pedigree charts – no,
this has nothing to do
with dogs
Punnett squares are not the only way we can
analyse inheritance data and probabilities.
Pedigree charts demonstrate the traits
expressed in a family (related organisms) over
many generations. They can be used to
determine genotype, analyse heredity
patterns and make predications. A common
way to use pedigree charts is tracing
mutations and diseases in humans. They can
also be important in looking at desired traits.
They work from logic and reasoning, weighing
up the chances of outcomes based upon
surrounding information. Usually, at least three
generations need to be present in order to
determine some of the information. Remember,
just like pedigree charts, these are only
predications and don’t always reflect the real-
life outcomes.
 How to construct
and Use
Pedigree charts
Pedigree charts use universal
symbols and designs to
display heredity information.
You can some of the symbols
and relationships to the side
here.
When writing an individual, it
is written as generation first
(e.g. III) and then the number
of the individual (e.g. 4) > III-
4.
Older generations are always
placed at the top and ensure
that you recognise the
marriage and parental
connections.
 How to construct
and Use
Pedigree charts
Here we have a sample. You can
see the first generation of two
parents – one being affected by a
‘disease’.
They have four children, only two
hold the disease who then have
children with other individuals. By
tracing the occurrence of the
disease, we can make common
assertions.
If you are making a pedigree chart,
start by including ALL the
KNOWN information, then the
unknown.
Dominant allele diseases will
occur more often in the pedigree
then recessive, e.g. dwarfism
over cystic fibrosis
 How to construct
and Use
Pedigree charts
Here we have a sample. You can
see the first generation of two
parents – one being affected by a
‘disease’.
They have four children, only two
hold the disease who then have
children with other individuals. By
tracing the occurrence of the
disease, we can make common
assertions.
If you are making a pedigree chart,
start by including ALL the
KNOWN information, then the
unknown.
Dominant allele diseases will
occur more often in the pedigree
then recessive, e.g. dwarfism
over cystic fibrosis
Have a go at this example, draw out the pedigree
chart first, then work out the possible genotypes
a) The yellow
allele is recessive
as there are
yellow children in
the second
generation,
however both
parents are
orange – they are
both heterozygous
for the yellow alle
and therefore
Karyotypes – Observations are always
cooler
Karyotypes are another format
that geneticists use to present
information and the genetic
layout of an individual. They
show all of the 22 pairs of
chromosomes plus the two sex
chromosomes (XX or XY).

Looking at the karyotypes, we

can identify certain
chromosomal diseases and
potential issues.
 XC Xc

XC

Y
 XC Xc
XC XC XC Xc
(female (female
XC not not
colourblin colourblin
d) d)

XC Y Xc Y
(male not (male
Y colourblin colourblin
d) d)
 XC Xc
XC XC XC Xc
(female (female
XC not not
colourblin colourblin
d) d)

XC Y Xc Y
(male not (male
Y colourblin colourblin
d) d)
 B – recessive (no
affected parents) and
sex linked (male
more likely)
 Dihybrid crosses – two for one
genetics

Once Mendel had his monohybrid, he

had to upgrade – in comes the dihybrid
cross! This analyses how traits will be
passed on independently (law of
independent assortment). In order to
understand this, we can conduct a
dihybrid cross.
To start off with let’s use two traits, pea
shape and colour – yellow is dominant to
green and round dominant to wrinkled.
We cross them and they always
produce the same offspring in F1 –
GgWw (yellow and round)
 Dihybrid crosses – two for one
genetics

Following this, we can cross-breed

the F1 generation to obtain the F2
generation (shown here).
You can see here that each of the
parents has 4 possible gametes
(due to two traits). Each then can
cross with a gamete of the other
parent.
Overall, we have 16 possible
outcomes, with 9 different
genotypes and 4 different
phenotypes!
 Dihybrid crosses – two for one
genetics

Most common dihybrid crosses

will produce a 9:3:3:1 ratio
You can see here
9 – there are 9 yellow, round peas
3 – there are 3 yellow, wrinkled
peas
3 – there are 3 green, round peas
1 – there is 1 green, wrinkled pea
For our last dot point, we need to cover a
few things

- Polygenetic inherence
- Polymorphic
- Allele frequency
- Analysing SNP’s
 Polygenetic Inheritance
– things ain’t as simple
as they seem
Most of our understanding of alleles and
inheritance has focused on single alleles,
single genes and single traits. The complexity
of organisms just means this isn’t applicable.
Many traits such as human height, depend on
many different genes across multiple loci and
therefore have ‘variable expressivity’. Whilst
individuals may have the same genotype,
they may not show the same phenotype or at
least vary in the expression of it.
For example; the dominant mutation
polydactyly leads to additional digits on a
person, some may have one extra whilst
some 2, 3 or more.
 Skin colour is another excellent
Polygenetic Inheritance example.
– things ain’t as simple Three genes (A,B,C) influence the
skin colour of an individual. As we
as they seem can see, there are many different
shades of skin colour compared to
the arrangement of genotypes.
Population genetics

Alleles are pretty awesome and

scientists can work with alleles a lot
of the time and develop something
we call ‘population genetics’.
Populations are groups of the same
species in one location.
We can perform quantitative
studies on populations by looking
at allele frequency data, such as
how many individuals posses a
certain allele and this affects the
adaptation and evolution of a
species (module 3).
Population genetics

Evolution and Mendelian

genetics explain why these allele
frequencies change over time and
lead to micro and macro evolution.
We can make predications and
investigate how selection
pressures may affect an allele.
Mathematical models are used
alongside quantitative data to do
all of this.
Allele frequency and maths

Allele frequency is the rate of

which an allele occurs within a
population.
For example if 30% of the
population has an allele
(potentially recessive) then it
has a frequency of 0.3.
Allele frequency and maths

Variation in any species is

crucial. Genetic variability
can be determined by
analysing the ratio/percentage
of a given genotype/allele. We
can use some formulas to
calculate these frequencies.
E.g.
Frequency of allele G = Number
of copies of allele (G) in the
population / Total number of
copies of the gene (G + g) in
the population.
Allele frequency and maths

Let’s do an example: Phenotypic frequency Gen 1: White = 5/6,

Black = 1/6
Firstly we need to find out the
frequencies and then Phenotype frequency Gen 2: White = 3/6,
hypothesise the changes. Black = 3/6

Phenotype frequency Gen 3: White = 1/6,

Black = 5/6
Allele frequency and maths

Let’s do an example: Genotypic frequencies Gen 1: cc = 5/6, CC =

1/6
Firstly we need to find out the
frequencies and then Genotypic frequencies Gen 2: cc = 3/6, CC =
hypothesise the changes. 3/6

Genotypic frequencies Gen 2: cc = 1/6, CC =

5/6
Allele frequency and maths

Let’s do an example: Allele frequencies Gen 1: C = 8.3% c = 91.6%

Firstly we need to find out the Allele frequencies Gen 2: C = 50%, c = 50%
frequencies and then
hypothesise the changes. Allele frequencies Gen 2: C = 91.6%, c =
8.3%
Allele frequency and maths

Let’s do an example: Possible reasons

- Positive selection pressure for black moths
Firstly we need to find out the - Black moths have the dominant allele
frequencies and then - Negative selection pressure for white moths
hypothesise the changes.
SNP’s
Polymorphisms are individuals that have
different phenotypes, occurring usually
due to mutations.
SNP’s – single nucleotide polymorphisms
– is where one nucleotide is replaced by
another (similar to a mutation) that
happens during DNA replication. These
only occur when in at least 1% of the
population.
These variations can affect appearance
enzymes and diseases, but most occur in
non-coding regions and have no effect.
SNP’s
SNP’s are useful genetic markers
that can distinguish individuals
and identify disease
susceptibility. Within the human
genome there are 10 million
SNP’s allowing DNA between
individuals to be distinguished.
Certain SNP’s don’t cause
disease, but are associated and
this allows scientists to detect
the presence of
disease/disorders. Coding SNP’s
is much quicker than doing the
whole genome, making it a much
more efficient process.
 Another way is something called STRs – short tandem
STR’s- repeats. This is a specific section of DNA found in all
the same species that can be examined and
Short compared.
tandem These are strands that have repeating nucleotides. The
amount of these repeats varies within a population. E.g.
repeats these individuals all have different number of STR’s for STR1
and STR2.
 Discussion: what could be some
potential benefits of understanding
the full DNA sequences in many
different organisms?
Inheritance Patterns
in Populations
Science is all about patterns. We look for patterns
that lead to new information and from new
information we obtain expansive knowledge and
understanding.
Our last inquiry question requires us to look at
genetic data and use technology to determine
ancestry, profiles, genetic diseases and
mutations.
The Human Genome Project was able to determine
the +3 billion base pairs that make up the DNA of
Homosapiens (a few individuals in particular).
DNA sequencing in particular has become an
interest to scientists.
 DNA sequencing is the way
scientists can identify the order
of nucleotides within a section
of DNA. By identifying these
sequences, we can compare
and use the information for the
variety of purposes that
inheritance patterns provide.
All organisms share many of the
ATCG bases that make up their
genome, but with billions of
base pairs there is always
differences, including between
family members.
There are many methods of
DNA Sequencing – DNA sequencing and they
require technology which can
what’s my code bro! isolate the target gene and
identify the bases themselves.
 DNA Sequencing –
Sanger Method
In order to sequence DNA, we first
need to obtain and prepare a
sample to use. The Sanger method –
Fred Sanger 20th Century – uses a
system that identifies, isolates and
then sequences a section of DNA (as
seen in the image).
1) The sample of DNA is heated,
splitting the two strands
2) A primer is added to the start of
the DNA strand and then builds a
complimentary strand.
3) The primed strands are then
released into the four
‘polymerase solutions’ (for
reactions)
4) Four dNTP’s (dideoxy nucleotides)
are then added that can ‘chain
terminate’. This means that they
stop the chain being created at a
certain point (seen using dye)
 DNA Sequencing –
Sanger Method
5) When the complimentary strands
are made, different strands
are terminated at different
points based upon the
sequence. This results in DNA
fragments of different
lengths across all reaction
vessels.
6) Electrolysis uses a special gel
that can be used to sequence
the DNA. The strands travel
along to different points along
the electrolysis.
7) The individual base pairs can
then be read from bottom to
top (as a complimentary strand)
8) This provides information on the
actual DNA sequence of the
individual, it can then be
compared for DNA testing,
forensic science and
The Maxam-Gilbert
method also uses similar
methods to obtain DNA
sequences. The method is
hazardous and complex,
therefore not being used
often.

Chemical reactions interact

with the bases (ATCG) and
uses radioactive atoms to
attach on.

Methods in the future

may become much more
 DNA
profiling –
Caught in
the act!
DNA profiling (DNA fingerprint analysis) is a
scientific technique that uses sequencing to
compare individuals by their DNA. This has become
a cornerstone of paternity tests and forensic
investigations.
Related individuals share much of their DNA (>
99%) but they also have significant differences
when we look at specific base pairs. STRs (short
tandem repeats) are introns (non-coding DNA) that
are always repeated over and over. The amount
of these repetitions vary between individuals
and therefore allow scientists to differ
between people.
Each of these lines represents an section
We can use the Sanger method to obtain samples of DNA / allele, therefore children must
from multiple individuals and compare results.
Individuals obtain alleles from both parents, and always obtain theirs from their mother
therefore need to match the mum + father and father. Male 1 is the father as it is
combined. the only match for the fourth (from the
Have a go at this one!
DNA profile
analysis:

The parents are

both Heterozygous
(Aa) and have two
unaffected children,
therefore child 1
must be
homozygous AA (as
they are unaffected)
and 2 is
heterozygous Aa
 DNA profile
analysis:

The parents are

both Heterozygous
(Aa) and have two
unaffected children,
therefore child 1
must be
homozygous AA (as
they are unaffected)
and 2 is
Mother – Aa Father – Aa Child 1 – AA Child 2 – Aaheterozygous
Child 3 - ??Aa

Since we have determined the genotypes of the parents & children

we can look at what child 3 would have. Child 3 has the allele that is
the mutation - as it has already been said that child 1 is unaffected
and so 3 will have the genotype aa. Therefore child 3 will have the
sickle cell anaemia disease.
 Cuckoos are great babysitters, Nest Biological children Adopted birds
they lay eggs in communal nests Family
and then the females incubate 1
and raise chicks that are not Family
theirs. We can use DNA profiling 2
to determine the parents and Family
their children 3
Use the profile here to determine Nest Biological children Adopted birds
the biological and adopted birds. Family
Fill in the table. 1
Family
2
Family
3
Use the profile here to determine Nest Biological children Adopted birds
the biological and adopted birds. Family 2 0
Fill in the table. 1
Family 3 2 (C3 and C5)
2
Family 4 2 (C2 and C4)
3
 Ethical
considerations –
Should we know
the sequences
of every person?
What kind of issues do
you think this could
lead to?

• Segregation due to genetic diseases

• Insurance companies taking
advantage
• Risk of data leaks
Data analysis – large
scale trends, patterns
and relationships
We have only looked at DNA sequencing on
a small scale, but on a large scale DNA
sequencing can improve our understanding
of disease, evolution and conservation
of threatened species.
Within every population is a gene pool – a
group of all the different alleles, e.g. the
gene pool in the room for hair colour may
be 3 – 5.
Many different factors affect the gene pool
and size. Mutations may introduce new
alleles, natural selection and genetic
drift may change the percentages of
alleles whilst migration may removes
alleles all together.
 Conservation genetics – Saving the
extinct

Conservation genetics is an important part of the

modern approach to ecological improvement
and protection of species. In order to protect
species, biological diversity is critical – this
requires a larger gene pool where populations
will be more likely to survive events like disease,
mutations and climate events.
Scientists combine regular methods of sampling
and statistics with segments of genomes and
determining patterns and relationships. For
instance, certain negative alleles that are
identified can be removed. Individuals can be
assessed, based on their segments, for re-
introduction into an area/ecosystem.
 Conservation genetics – Tasmanian
Devils

Tasmanian devils are under severe threat from

DFTD. The infectious disease is rampant and
has affect much of the population. By using the
genome of the devil, scientists have identified
the disease and it mutation process.
Research has also lead to an understanding of
phylogeny (pedigree) of the disease and the
spread (abundance) throughout Tasmania.
Information like this is only obtained through
conservation genetics and can lead to import
decisions in order to protect the species.
 Conservation genetics – Woolly
Mammoths

Mutations can be incredibly

detrimental to species. Woolly
mammoths living on Wrangel island
(top of image) were isolated from the
rest of the population.
Their genome was obtained from frozen
fossils and they detected a high
amount of mutations due to inbreeding
(limited genetic diversity on the island).
These mutations affected the urinary
systems and likely lead to the species
decline in number.