Biology | Module 5 Heredity
reproduction | in animals Chapter 1.1
Inquiry question: how reproduction ensures the
continuity of a species
Heredity: is the passing on of physical or mental
characteristics genetically from one generation to
another
Therefore, reproduction ensures the continuity of
species, through the replication of DNA passing
genetic information to offspring via heredity
To understand this process students are studying
animal and plant reproduction processes that show
how reproduction ensures the continuity of species
via different methods
Animal reproduction | Chapter 1.0
Reproduction is a fundamental evolutionary
process ensuring the continuity of life
For animals to increase survival, there are 2
methods of reproduction to occur effectively
according to environmental conditions
Asexual reproduction: involves 1 parent and
produces offspring genetically identical to the
parent
Sexual reproduction: involves 2 parents that
produce offspring with a mix of the parent’s genes,
therefore differ from parents
However, to improve reproductive success for each
species, animals have reproductive mechanisms to
ensure this continuity of its species
Explaining mechanisms of reproduction |
Ensuring continuity of species
During sexual reproduction, a combination of
genetic material (chromosomes) from each parent
is passed to offspring
It is important to prevent the number of
chromosomes from doubling and maintained,
ensuring offspring receive the genetic variation
needed for functional protein production
This prevention is done by Meiosis, therefore a
mechanism for ensuring the continuity of its
species
Meiosis: Is cell division that produces gametes and
occur in:
Females Ovary
Males Testes
Analysing sexual and asexual methods of
Analysing reproduction methods in the organisms
will allow us to understand how they ensure the
continuity of species:
Types of sexual reproduction have different
strategies, advantageous and disadvantageous
according to environmental conditions inhabited in
Recap: for organisms to survive they have to be
well-adapted to
Survive the selective pressures of their
environment:
 Temperature
 weather conditions
 geographical access
Outcompete their competitors for:
 Resources (food/water)
 Shelter
 Mates
Hence types of reproduction methods an organism
may undergo is to adapt to changes making it so
that its reproductive success is advantageous and
therefore;
Terrestrial  reproduce internally
Aquatic  reproduce externally
NOTE: not limited by this
This is because Haploid cells need to stay hydrated
during the process of fertilisation hence:
 Aquatic organisms reproduce externally
as surrounded by water
 Terrestrial organisms produce internally
as not surrounded by water
NOTE: There are other reasons that can determine
internal or external which makes it either
advantageous or disadvantageous
Therefore, reproduction can be either internal or
external fertilisation
Advantages of external or internal fertilisation of
an Animal |
Fertilisation is the union of male and female
gametes (sperm & ova ) this can be either done as
External fertilisation: The male’s sperm (gametes)
fertilises the female’s eggs (gametes) outside of the
female’s body
 Embryos developed outside the body
Internal fertilisation: Copulation allows the egg
and sperm (gametes) to fertilise and develop inside
the female body
 Embryos developed inside the body
RECAP: The types of reproduction methods an
organism undergoes ensure its reproductive success
is at an advantageous hand, these include:
Advantages of External fertilisation
I. Gametes are produced in large numbers to
increase offspring survival
II. There is a higher genetic variation to
withstand selection pressures
III. No gestation period means less demand
and burden on the mother
Advantages: Internal fertilisation
I. Less gametes are produced to reserve
energy
II. Gametes are protected away from
predators
III. Offspring more developed to increase
chances of survival
IV. Parental care is involved to teach skills
required to survive and protection from
predators
Disadvantages: External fertilisation
I. High energy requirements to produce large
numbers of gametes
II. Relies on an aquatic environment to
prevent gametes from dehydrating
III. Requires successful coordination of male
to cover eggs with sperm
IV. No parental care is involved leads to the
likelihood of predation
Disadvantages: Internal fertilisation
I. A long gestation period is a burden on the
mother
II. Reduces mother’s mobility and increases
her nutritional needs (more susceptible to
predation and disease)
III. High energy requirements to attract and
copulate a partner
Similarly to animals’, plants have different methods
of reproduction to ensure their reproductive success
which leads to 
Analysing sexual and asexual methods of
reproduction | in plants
A plant’s reproductive structure is the flower which
contains both female reproductive parts and male
reproductive parts
Therefore, it may reproduce asexually or sexually
depending on its environmental conditions,
This ensures the continuity of its species hence:
 Sexual reproduction in plants is the
successful fusion of male-female gametes
 Asexual reproduction in plants is the
successful act of vegetative propagation
Sexual fertilisation Process in plants
Pollination: Male gametes inside the pollen
carried from anthers to the stigma (female)
Deposited: Pollen deposits on the stigma  a
pollen tube germinates & grows down the style
Sperm: carrying inside style the male gamete
(sperm cell) to an ovule in the ovary
fertilisation occurs
Types of sexual fertilisation in plants
Cross-Pollination: Combines pollen and ovule,
involving 2 separate plants (requires less energy)
or one plant (self)
Note: cross-pollination is a mechanism to increase
genetic variation and ensure the survival
Self-Pollination: Combines pollen and ovule from
the same plant (rely on outside agent, or biotic
factors )
Note: Pollination is a mechanism in plants that
include self-pollination
To ensure survival if reproductive
partners are scarce
Advantages of sexual reproduction:
  Promotes genetic diversity to cope with
selection pressures (environmental change
and disease)
 Seeds are well dispersed to avoid the
competition of close individuals
Disadvantages of sexual reproduction:
 The success of pollination relies on
external factors (wind, animals, water) for
pollination
 A lot of energy is invested in attracting
pollinators
Asexual fertilisation Process in plants Chapter 1.3
Asexual reproduction in plants relies on vegetative
propagation, where it is the cloning of an adult
plant (offspring are genetically identical to the
parent ) this is done by;
Prennnating organs, where the plants roots or
stems is stored underground to sustain the plant’s
dormant state
Undergrounds organ begin to develop and bud
once in favourable conditions
NOTE: This process allowing plants to survive
adverse conditions ( winter & summer )
However asexual reproduction in simpler terms can
be categorised as:
 Propagation: parent grows an outgrowth
which is separated and develops into an
offspring
 Fragmentation: parent breaks into pieces
and can be developed into offspring
Advantages of asexual reproduction
 Maintains desired characteristics from
parents (beneficial for agriculture)
 Can quickly reproduce when their traits
are suited to current conditions
Disadvantages of asexual reproduction
 Lacks genetic diversity which leads to
populations vulnerable to selection
pressures (lead to wipe out/extinction)
Asexual reproduction in other organisms
Organisms: Protists, fungi and plants, alternate
between sexual and asexual reproduction.
This mechanism, is known as the alternation of
generations, and for the same reason interchange
methods for the successive reproduction of its
species
Fungi | budding and spores
Budding:
In reproductive budding, an adult organism gives
rise to a small bud, which separates from the parent
and grows into a new individual
In depth explanation | process
I. A small bud develops on the parent cell
outgrowth enlarges, the parent cell
replicates its DNA
II. Nucleus then divides and moves into the
bud or daughter celluntil it reaches a
certain size, finally detaches
III. continues to grow, until it buds into a new
individual
Spores:
a reproductive cell capable of developing into a
new individual. Uses wind to disperse offspring 
Spores are released from the parent and can survive
very harsh conditions (dormancy)
When environmental conditions are favourable
(warm and moist) the spores develop
Can be produced by bacteria, fungi, algae and
plants
Ensuring the continuity of species: this process of
spore production to reproduce enables fungi to
reproduce rapidly
In depth explanation | process
I. The structure called sporangia produce
very large numbers of spores

II. light and easily dispersed, travelling long
distances by wind
III. Spores effectively expand the distribution
of the species
Bacteria | Binary fission:
Bacteria will reach a stage of maturity and size that
will cause them to divide (similar to mitosis)
For successful reproduction, timing of division is
crucial  each individual must retain a complete
and exact copy of genetic material.
Used by bacteria and protists
 The term means to be separated into two
In depth process |
I. A newly divided cell grows to twice its
size
II. replicates its genetic material (DNA)
III. splits into two cells with identical genetic
material, and reproduces
Protists | binary fission & budding
Protists are unicellular eukaryotes ( amoeba ) that
reproduce asexually through a type of binary
fission
This involves mitosis and the formation of a
spindle to distribute chromosomes equally
In depth process |
I. In adverse environmental conditions,
amoeba form a cyst
II. Divides by multiple fissions inside the
cyst, forming many identical cells
III. Is released when favourable conditions
return
Analysing Features of fertilisation implantation |
Chapter 1.4
Reproduction stages
1. Fertilisation
13-15 days after menstruation the female releases
an ovum  remains in the fallopian tube
 Hormones coordinate oestrus in the
female and copulation allows sperm to
travel into the fallopian tube
 With physical contact, a sperm and ovum
will fuse producing a zygote
 Zygote is the fusion of male and female
gametes (sex cells) to form a zygote
(fertilised egg)
 Zygote contains a new combination of
genetic material
Increases chances of survival when there is an
environmental change
 The cycle must be self-perpetuating, to ensure
the continuity of the species
Fertilisation In depth process:
1. The sperm uses enzymes from the
acrosome to dissolve and penetrate the
protective layer (zona pellucida)
surrounding the egg to 877878reach the
cell membrane
2. Molecules on the sperm surface bind to
receptors (specialised proteins) on the
egg’s cell membrane to ensure that a
sperm of the same species fertilises the
egg, then the nucleus of the sperm enters
the cytoplasm in the egg cell
3. Changes at the surface of the egg occur to
prevent the entry of multiple sperm nuclei
into the egg
4. Fusion of the haploid egg and sperm
nuclei results in a diploid zygote cell (the
fertilised egg)
2. Implantation 
The zygote then undergoes rapid cell division
(mitosis) and travels to the uterus
This develops a clump of cells called a blastocyst
which attaches itself to the endometrium
Implantation in depth process |
 zygote travels down the oviduct until it
reaches the uterus. First stage of
development is cleavage- a period of rapid
cell proliferation
 single-celled zygote is divided into many
hundreds of smaller cells by mitosis. This
mitosis transitions the cell to a morula.
This is a ball of unspecialised embryonic
stem cells
 The continued mitosis causes the morula
to become a blastocyst as its cells begin to
differentiate. The inner cell mass will give
rise to the embryo and the outer layer of
cells will help the placenta develop
 gastrulation occurs to form a gastrula
which eventually becomes a fetus
Note: important for blastocyst to adhere to the
lining of the uterus. The outer layers of the
blastocyst initiate the formation of the placenta
 Placenta brings the blood vessels of the fetus
into close contact with maternal blood through
diffusion to exchange nutrients, gases and waste
3. Embryo
The blastocyst that is still attached to the
endometrium develops into the embryo
With a constant supply of oxygen and nutrients
from the endometrium, corpus leutum and
placenta, a child is born in 9 months
Development of the embryo:
Ectoderm- forms epidermis, hair, brain and spinal
cord cells
Mesoderm- forms muscle, cartilage, kidney and
gonad cells
Endoderm- forms the lungs, bladder, and lining of
the digestive system
Ovarian cycle
The cycle controls the release of the ovum. The
cycle lasts an average length of 28 days and it starts
on the first day of menstrual bleeding
The two stages are: 
 Follicular phase
 Luteal phase
Follicular phase |
This phase prepares the ovum to be released into
the fallopian tube
1. Dormant ovum stored in the ovary. Each ovum is
covered in follicles.
2. Follicles of one of the ovum will produce FSH
to produce more follicles around it
3. At approximately day 14, follicles release LH
which causes it to burst. This releases the ovum
Luteinising phase |
This phase produces a corpus luteum which
prepares the endometrium for pregnancy
4. hCG acts on the remaining follicle and develops
it as a corpus luteum
5. It begins to enlarge and secretes a hormone
called progesterone
This causes the endometrium to be highly
vascularised and ceases the menstrual cycle if
pregnant.
5. In absence of fertilisation, the corpus
luteum will degenerate. If fertilised, hCG
levels remain high until it is replaced by
placenta
By the reproduction cycle, we can see how
hormones work to ensure this process hence to help
us further understand this leads to 
Hormonal control of pregnancy & birth in
mammals | Chapter 1.5
Mammals have several reproductive mechanisms to
maximise the reproductive success that is;
 internal fertilisation
 increases the chance of gametes meeting
 implantation of the embryo
internal development increases embryos’
chance of survival
 pregnancy
developing young is protected
NOTE: hence through these three processes
within reproduction ensures the continuity of a
species
These stages of sexual reproduction are timed and
synchronised by a combination of hormones, that
coordinate the reproductive cycle to ensure greater
reproductive success
Hormones allow chemical substances to act as
messengers in the body, coordinating the
reproduction cycle
From meiosis (gametogenesis) to courtship
behaviour, pregnancy, and birth are carefully
regulated by hormones
Gametogenesis is cells undergoing meiosis form
gametes
Where hormones come from |
The hypothalamus (located in the brain) plays a
crucial role in releasing hormones coordinating the:
 Pituitary gland
 Adrenal cortex ( outer adrenal gland)
 Ovaries
 Testes
The hypothalamus sends signals to the pituitary
glandpituitary gland will then secrete
hormonesadrenal glands produce hormones in
response to signalshormones in testes & ovaries
produced
The pituitary gland |
Secretes hormones that regulate the release of their
hormones for growth, metabolism and reproduction
these include but not limited to;
Follicle-stimulating hormone (FSH): stimulating
maturation of follicles in the ovaries of females
 Manages the menstrual cycle and
stimulates the ovaries to produce eggs
luteinising hormone (LH): promotes final
maturation of the ovarian follicle, ovulation and
development of the corpus luteum in females
 Controls the menstrual cycle and triggers
the release of an egg from ovaries
RECAP: The follicular phase and Luteinising phase
use these hormones to aid the reproductive cycle
Other hormones in mammalian reproduction |
Androgens: Are male hormones, Androgens
control the development and functioning of male
sex organs and secondary sex characteristics
Oestrogens: Are female hormones, controlling
the development and functioning of the female
reproductive system and secondary sex
characteristics
Progesterone: second group of female hormones a
primary role in pregnancy
Hormonal control of the female reproductive
cycle |
Female reproductive hormones signal the
molecules responsible for communication between
organs and tissues to regulate physiological and
behavioural processes
Endocrine glands regulate and control the ovarian
and menstrual cycles in a coordinated manner
synchronising these cycles to ensure fertility
Oestrogen and progesterone, produced by the
ovaries and controlled by hormones of the pituitary
(FSH & LH)
Impact of scientific knowledge | manipulation of
plant & animal reproduction in agriculture
Chapter 1.6
Agriculture is the cultivation and breeding of
animals, plants and fungi for food to enhance
human life
Humans have been manipulating plant and animal
reproduction to improve the quality and yield of
The simplest method is to select the parents of a
species to mate and increase the possibility of
desired traits (selective breeding)
Cell replication | Modelling the process of cell
replication Chapter 1.7
Inquiry question: How important is it for
genetic material to be replicated exactly
It is important for genetic material to be
replicated to offspring, ensuring the next generation
has the genetic information to survive in the same
conditions
This is done via a process of meiosis and mitosis,
both replicating genetic information
Therefore, if genetic replication fails these
processes can cause mutations and chromosome
rearrangements, leading to diseases or even death
Hence leads us to firstly 
The role of mitosis in cell replication |
All organisms start off as a zygote that grows into
an embryo, and this “growing phase” is through
mitosis
Embryonic cells are able to divide repeatedly and
are pluripotent (they have the potential to develop
into any type of tissue)
Hence, cell division by mitosis leads to the
formation of 2 new identical cells that contribute to
 Growth of the multicellular organism
 Repair of damaged tissue and replacement
 Asexual reproduction
 Genetic stability
The cell cycle of Mitosis
Cell division and enlargement occur in a repetitive
sequence is called the cell cycle and occurs in four
main phases:
I. G1 is a gap phase for cell growth before
DNA replication.
II. S is a synthesis phase during which DNA
replicates
III. G2 is a second gap phase after replication
IV. Mitosis (a division of the nucleus) then
occurs, followed by cytokinesis
Mitosis as four main phases |
Interphase
 Prophase
 Metaphase
 Anaphase
 Telophase
Cytokinesis
Interphase/ prophase:
Interphase occurs in the S phase of the cell cycle,
where DNA synthesis occurs:
DNA replicates and separate into chromosomes
Prophase:
The chromatin material shortens and thickens by
coiling and the DNA separates out into
chromosomes
Each copy is called a sister chromatid, and these
are joined by a single centromere
Metaphase:
chromosomes line up across the centre or
‘equator’ of the cell, each attached to the spindle
fibres by a centromere
Anaphase:
Proteins in the centromere are cleaved, which
allows the sister chromatids to separate. Each
chromatid becomes a chromosome.
Telophase:
The daughter chromosomes gather at opposite
poles of the cell. The nuclear membrane forms
around the two nuclei now called daughter nuclei
Telomeres and aging
Cells reach a point where they can no longer
divide, due to a change in the structure of the ends
of chromosomes
This is a change by the shortening of telomere at
the end of a chromosome
Once at a certain length, the cell stops dividing
leading to cell senescence ( death )
In short, decreases in length is a sign of ageing
The role of meiosis in cell replication |
Meiosis gives rise to gametes that transmit genetic
material from one generation to the next during
sexual reproduction
Meiosis prevents chromosomes from doubling, a
mechanism exists to ensure that half of each parent
chromosome pass
In short, Meiosis ensures that the chromosome
number of each species is maintained (not doubled)
The cell cycle of meiosis |
RECAP: Cell division and enlargement occur in a
repetitive sequence called the cell cycle and occurs
in two phases
Meiosis I, where the diploid cell divides into two
haploid cells and the chromosome number is
halved
 meiosis II, where the two cells each divide
again, resulting in four haploid daughter cells
Phase 1:
Prophase I
 Chromosomes condense and duplicate
during interphase to form sister
chromatids attached at the centromere (1
maternal and 1 paternal)
 Sister chromatids pair up as homologous
chromosomes and are positioned very
close to each other
 Crossing over genetic material occurs
at the chiasma (point of contact).
This creates non-
identical chromosomes
Metaphase I
 spindle fibres form and
attach to chromosomes.
Homologous chromosomes
(not individual chromo)
line up at the equator as
two rows
 These chromosomes are randomly
assorted to ensure each gamete is
produced with different assortments of
chromosomes (independent assortment)
Anaphase I
 Homologous chromosomes are pulled
apart to move to each pole of the cell
(opposite sides)
 Sister chromatids remain
attached (different in mitosis as
they are disconnected)
Telophase I
 When chromosomes arrive at the
poles, nuclear membrane forms
and chromosomes decondense
 Cytokinesis occurs at the same
time forming two haploid daughter
cells. Each cell has chromosomes that
are not identical to each other
Phase 2:
Prophase II
 Cells move from meiosis I to meiosis
II without replicating DNA. 
Chromosomes condense and
nuclear envelope breaks down
Metaphase II
 Chromosomes line up individually along
the equator in one row
Anaphase II
 Sister chromatids separate to each pole,
chromatids are now chromosomes
Telophase II
 Nuclear membranes form
around each set of
chromosomes,
and chromosomes decondense
 Cytokinesis splits the chromosome sets
into new cells four haploid cells (23) in
which each chromosome has just one
chromatid
Through meiosis, the cell has produced four
gametes that contain the DNA for replication this
leads us to
Why does DNA need to replicate ?
An organism genetic code contains instructions
for every feature of the individual
hence it is vital that DNA is passed on to each
daughter cell in an exact copy
to ensure that each generation of cells contains
the same genetic instructions
 Along the chromosomes are long
sequences of base pairs, called genes
 Genes code for the production of proteins,
making large proportions of cell structure
and functioning
 Proteins carry and control all cell
functioning ( i.e biochemical reactions in
cells )
 Hence, DNA replication is vital as it
allows for the organisms to reproduce and
pass genetic material on for functioning
purposes
Replication of DNA outside the nucleus
As cells divide, organelles must also divide to
maintain the number for normal tissue functioning.
This is to avoid a repeated reduction in quantity
with each cell division
In cytokines, the cytoplasm splits in half. Which
inside contains organelles (mito and chloro).
Therefore, mitochondria and chloroplast need to be
able to replicate themselves, as they carry genes
important to cell metabolism
Hence, organelles contain their own small amounts
of DNA and replicate, to maintain their numbers in
successive generations of cells
This is important to take note of as DNA in
mitochondria (mtDNA), is inherited by the
offspring which are located in the cytoplasm of the
egg cell
Studies of mtDNA reflect maternal inheritance over
many generations
Therefore by replicating DNA ensures organisms
contain the same genetic code to function and
coordinate in the same environmental conditions
Which leads us to understanding the 
DNA replication of Watson & Crick DNA model |
nucleotide composition pairing & bonding
DNA STRUCTURE | chapter 1.8
DNA strands, comprise of a sugar-phosphate
backbone, where strands are parallel to each other
in opposite directions
A familiar term to associate with is ‘genes’, they
are short pieces of DNA that carry specific genetic
information
Genes consists of a combination of 4 different
nucleotide bases adenine, cytosine, guanine and
thymine
adenine bonds with base thymine (A and T)
guanine bonds with base cytosine (G and C)
All living things depend on genes as they are
building blocks to metabolic functions
DNA serves as a template for replication |
Whenever a cell divides, the two new daughter
cells must contain the same genetic information, or
DNA, as the parent cell
Therefore, the structure of DNA strand allows for
its replication, as it serves as a template for
enzymes to synthesise a new complementary DNA
strand
As DNA carries the instructions for the formation
and functioning of cells, it is important that it is
transferred to the next generation
Packaged in the form of chromosomes and carried
by gametes for the reproduction functioning of
another organism
Nucleic acids |
DNA or RNA can be referred to as nucleic acid,
which contains chemical elements of carbon,
hydrogen, oxygen, nitrogen and phosphorous
Each nucleotide composes of simple sugar (ribose
in RNA, deoxyribose in DNA), a phosphate and a
nitrogenous base
Genetic code is then created in the consecutive
sequence of bases, providing the ‘genetic code’ for
a cell
What is DNA and RNA in cells |
DNA stores the genetic information that controls
the cell and thereby the whole organism
DNA is the main chemical making up chromatin in
the nucleus, although small amounts of DNA are
also found in mitochondria and chloroplasts.
DNA is responsible for transmitting inherited
information from one cell to another during cell
division and from one generation to another during
reproduction
RNA is a nucleic acid found in small amounts in
the nucleus, and in larger amounts in the
cytoplasm; it is usually associated with ribosomes.
RNA has the base uracil (U) instead of thymine (T)
DNA replication | Watson and crick model
DNA replication is the production of two identical
double-stranded molecules of DNA from one
original double-helix molecule
The process of DNA replication |
There are four main steps
1. The DNA double helix unwinds
2. DNA unzips – the two strands separate
3. Nucleotides are added against each single
strand
4. Replication errors are identified and
corrected
Part one | helix unwinds
Double stranded helix, progressively unwinds by
an enzyme called helicase
Part 2| DNA unzips
Using ATP as the energy source, helicase disrupts
the weak hydrogen bonds of complementary bases
on opposing sides
Part 3 | nucleotides are added
Each separate strand of the DNA molecule acts as a
template for the production of a new strand of
DNA
Part 4 | replication errors
DNA polymerase I is a complex enzyme that can
backtrack to ‘proof-read’ & ‘edit’ the strand.
Correcting any base pair errors by splicing out the
incorrect base and replacing
The importance of accuracy during DNA
replication | chapter 1.8
DNA makes up the genetic code of an individual,
exact copying of this sequence during replication is
critical to avoid mutation and cancer cells
Therefore it is critical to maintain heredity
(inheritance of genes):
The genetic material transmitted from cell to cell
(by mitosis) and from generation to generation (by
gametes from meiosis) needs to be accurate
This is because errors in replication is common, if
undetected by the enzyme (DNA polymerase),
harm will be undetected, not corrected through
DNA repair, and replicated
Causing a permanently mutated strand of DNA
Note: Mutations can also be mechanisms by giving
rise to variation in organisms, that may be
beneficial to a species in terms of biodiversity &
evolution
Assessing the effects of the cell replication
processes on the continuity of species | Chapter
1.9
The continuity of species is the ongoing survival of
an organism that has remained through accurate
DNA replication and hence passes the genetic
characteristics
This is known as genetic stability; however,
another consideration is that variation also plays a
role in ensuring the continuity of the species
Genetic continuity
Genetic continuity is reserving genetic information
across generations, this is by mitosis and sexual
reproduction of two organisms. This ensures the
continuation of a species, as new cells have genes
required to survive
Genetic stability
At a genetic level, stability arises when
chromosomes are replicated accurately to give rise
to identical daughter chromosomes
For continuity at the species level, desirable traits
must be passed on, along with some random errors,
this allows species to evolve if an environmental
change occurs
Mechanisms that have evolved to ensure genetic
continuity:
  Consistent replication
 Orderly distribution of chromosomes
 Fertilisation methods
 Methods of embryo survival
 Natural selection
The mechanism that results in genetic variation:
 Mutation in DNA
 Mixing of parent genes in sexual
reproduction
DNA and polypeptide Synthesis | compare the
forms in which DNA exists in ‘E’ & ‘P’ cells
chapter 2.0
Inquiry question: Why is polypeptide synthesis
important?
Prokaryotic DNA | Location and structure
P cells are primitive cells with a simpler structures,
that contain single chromosomes in the form of a
circular strand of DNA ( non-membrane bounded )
DNA codes for proteins, made into ribosomes in
the surrounding cytoplasm of chromosomes
The circular strand of DNA is not a helix. The
direction and number of twists contribute to the
coiling and supercoiling of circular DNA
Non-chromosomal DNA
P cells may have more than one small rings Of
DNA, however are not essential to survival of cell,
but provide an advantage ( i.e resistance to
antibodies )
Packaging of prokaryotic DNA
The circular chromosomal DNA of P cells is about
1300 µm in length. It is needed to fit into a cell
( i.e E. coli ) of 3 µm in length
Therefore to fit into this it is supercoiled and form
loops around a central protein. Forming a nucleoid
Eukaryotic DNA | Location and structure
E cells are located in a membrane-bound nucleus
within the cell, where the DNA molecules are
arranged into sperate chromosomes. They are
complex and larger than P cells
A large portion of E cells are non-coding in
sequences called introns ( ie not used to make
products such as proteins or RNA )
Packaging of eukaryotic DNA
DNA of E cells are linear rather than circular, and
do not supercoil around proteins ( histones) but
winds around, forming nucleosomes made of long
sequences of DNA ( like a cotton bud )
E cells have five main histones, all of which play a
role in packaging DNA. This is due to the fact by,
histones contain a large number of positivity
charged amino acids, which allow them to bind to
negatively charged phosphates of DNA. These
changes are thought to be linked to histone binding
Non-nuclear DNA in eukaryotes
In E cells mito and chloro are organelles that
contain their own DNA
Non-nuclear mitochondrial DNA (mtDNA) is
found in the respiratory organelles of cells and is
proved extremely useful in studies of evolutionary
relatedness ( used to trace maternal inheritance )
However mtDNA has a higher rate of mutation
than nuclear DNA, making it easier to identify
differences between closely related individuals
The use of mtDNA is of advantage because
mitochondria:
 is inherited only from the mother, which
allows tracing of a direct genetic line
 do not combine paternal and maternal
genes, as nuclear DNA does (mixing
genes during gamete
formation and fertilisation)
 occur in large numbers in every cell, so
they are easy to access and sample
 evolve very quickly because mtDNA does
not have repair enzymes, and so mutations
arise often during replication
Transcription and translation | polypeptide
synthesis chapter 2.1
Polypeptide synthesis is a continuous, unbranched
chain of amino acids essential for cell function
Recap: cell function is important as it allows for
metabolic processes to take place (survival)
This is important as it is the base sequence of DNA
 for a better understanding: DNA is divided up
into functional units called genes, which may
specify polypeptides
Polypeptide’s bond amino acids together to create
proteins, these proteins are for the metabolic
process such as meiosis and so forth  continuity
of species to further
In short: DNA consist of polypeptides & its
sequence is encoded to a gene
amino acids join to make a polypeptide
polypeptides are proteins proteins code for
metabolic functions
The process of polypeptide synthesis |
One or more polypeptides twist and join together
forming proteins in cells. The particular sequence
of amino acids determines the configuration of the
protein (type of function)
In order for a cell to make a particular group of
proteins, only the relevant instructions for proteins
are accessed in the DNA nucleotide sequence
However DNA cannot leave the nucleus and
therefore, an intermediate molecule called
messenger RNA ( mRNA ) is created
mRNA carries a transcribed copy of the relevant
instructions from the nucleus to ribosomes, that
translate the message of the mRNA into the protein
Nucleic acids involved in polypeptide synthesis:
2 types of nucleic acids are essential in the process
of polypeptide synthesis: DNA and RNA (3 types
of RNA)
DNA: consists of long chains of nucleotides that
wound into a double helix
RNA: is a nucleic acid made up of a chain of
nucleotides, but differs from DNA
 Most RNA is single-stranded
 The sugar in RNA is ribose sugar (not
deoxyribose sugar as in DNA)
 RNA has the nitrogenous base uracil (U)
instead of thymine (T)
 3 types of RNA: messenger RNA
(mRNA), transfer RNA (tRNA) and
ribosomal RNA (rRNA)
Messenger RNA (mRNA): is single-stranded and is
not twisted into a helix, functions as an
intermediate molecule
Carrying information from DNA in the nucleus to
the ribosomes in the cytoplasm
Transfer RNA (tRNA): these molecules occur in the
cytoplasm, one end of the tRNA are three unpaired
bases called an anticodon
Where each tRNA molecule will only attach to one
particular amino acid. The specific sequence
determines which amino acid will be carried by that
tRNA
Ribosomal RNA (rRNA): forms a structural part of
ribosomes and is made in the nucleolus of the cell
Transcription
Transcription occurs when an enzyme, RNA
polymerase, binds to a section of DNA to form a
complementary strand of RNA
1) RNA polymerase binds to a part of the DNA
called the promoter and the DNA ‘unzips
2) Transcription of the gene is controlled by the
enzyme RNA polymerase, a strand of the DNA
acts as a template and RNA nucleotides are
assembled, forming a complementary single-
stranded
mRNA molecule (DNA is transcribed into
mRNA)
3) The mRNA moves out of the nucleus and into
the cytoplasm, where it encounters some of the
millions of ribosomes in the cell
Translation
1) occurs when the ribosomes move along
the mRNA molecule, temporarily pairing
bases of tRNA with complementary bases,
enables for tRNA molecules to attach to
mRNA
2) Amino acids from the tail end of each
tRNA, link to one another via an enzyme
forming a polypeptide chain, and it then
splices off its tRNA carrier
3) tRNAs move away from the mRNA, and
move back into the cytoplasm and can be
reused for this process
4) polypeptide may join with another, for its
final protein end product
5) mRNA is then broke down, to be reused
into the same process
Genetic Variation | chapter 2.2
Inquiry question: How can the genetic similarities
and differences within and between species be
compared
crossing over of homologous chromosomes |
genetic consequences of meiosis
One cell undergoes two meiotic divisions to
generate four haploid cells
The genes in each haploid cell are a new
combination of the parental genes
The new combination results from both crossing
over and random segregation, allow the individual
alleles of maternally and paternally derived
chromosomes to assort independently
 leads to genetic variation, depending on
which chromosome (paternal
or maternal) of each pair ends up in which
daughter cell
 Many combinations of chromosomes are
possible in gametes as a result of meiosis,
resulting in a variety of gametes forming
The genetic consequences of fertilisation:
 Two haploid gametes fuse to form a
diploid zygote
The genes in the zygote are a combination of the
genes contributed by the parents
Combinations of gametes during fusion of the
sperm cell and egg cell: increase variation that
leads to greater variability in a population of the
organism (50% paternal and 50% maternal)
mutation may arise at any point in the process,
more so commonly during replication of DNA
Consequences of self-fertilisation or cross
fertilisation
Offspring from cross-fertilisation between plants
will have greater genetic diversity than those of
self-fertilisation
offspring arising from gametes produced by
unisexual animals ( having both reproductive
organs ) have greater genetic diversity than
hermaphroditic (bisexual) animals
Once this undergoes then Mendel’s terms ‘pure-
breeding’ and ‘hybrid’ known as Homozygous and
heterozygous genotypes is used to ‘categorise’ the
genotypes
The general idea of this: Humans have two sets of
chromosomes. Homozygous and heterozygous are
terms that are used to describe allele pairs

known in modern genetics as ‘homozygous’

Variability:
 Variations in the gene content of the
gametes give rise to individuals in the
population with new gene variations,
increasing variability
(e.g. TT or tt) and ‘heterozygous’ (e.g. Tt)
respectively
The term ‘homozygous’ is derived from two words:
homo = the same; and zygote = a fertilised
egg that has received half its genetic material from
each parent

 Mutations may further contribute to  A test cross is used to determine whether

genetic variation in an individual and an individual is homozygous dominant or
genetic variability within a population heterozygous for a particular trait

 A pedigree chart is used to trace the

Genotypes and inheritance patterns | chapter 2.3 inheritance of a particular trait through
Autosomal recessive inheritance several generations of a family

Autosomal recessive is one of several ways that a

trait, disorder, or disease can be passed down
through families

Mendel’s model of inheritance was based on a

specific set of conditions, this pattern
of inheritance is known as autosomal recessive
inheritance

A version of each characteristic or trait in an

individual is inherited from both parents and is
therefore controlled by a pair of inherited factors
called alleles

In short, Alleles are an alternative form of the

same gene, and occur as pairs in a diploid
individual

Recap:  Diploid cells are each parent contributing

chromosomes to form a zygote

Hence, as they occur as pairs in diploid cells, they

contribute to the organism's phenotype (outward
appearance of the organism) via shared genetic
information ( alleles )

However, before this occurs the diploid cell will

experience “Genotyping” which is the process of
determining differences in the genetic make-up Thus after this process, the appearance of this
organism is determined, also known as the
DNA sequencing and other methods can be used to
phenotype and hence,
determine the genotypes ( punnet squares )
The genetic makeup or genotype is used to describe
the its physical appearance or phenotype
Phenotype is not only the physical appearance of an
organism but may also include its physiology
(functioning) and aspects of its behaviour
On a molecular level, the phenotype is the sum of
the gene products (proteins and RNA) that are
made
Hence, as cells are halved therefore: female gamete
(egg cell) receives 22 autosomes + X
Males gametes (sperm cells) receive 22 autosomes
+ X and the other half receive 22 autosomes + Y
A zygote inherits an x chromosomes from both
mother and father = female (XX)

In short, An organism's genotype is the set of A zygote that receives an x chromosome from
genes that it carries, an organism's phenotype is all mother and y chromosome from father = male
of its observable characteristics  (XY)

To sum the ideas together so far: It can be said

that as alleles in genes pass down the
characteristics and traits into diploid cells
(exchange of chromosomes) these can be
categorised as homozygous and heterozygous.

Depending on what genetic variation it is

(dominant or recessive) it determines the phenotype
of the organism (appearance)

Deviations from Mendel’s ratio | Sex-linkage, co-

dominance incomplete dominance and multiple
alleles chapter 2.4

It is important to understand that with Mendel’s
ratios, at times there are deviations under certain
conditions, this includes
 genes that are not dominate nor recessive, may
be expresses as co-dominance
a blending of their characteristics may be
expressed as incomplete dominance
genes may not assort independently this is
expressed as sex-linked inheritance
During the process of fertilisation and determining
the sex, some genes carried on the X and Y
chromosomes code for characteristics other than
the gender  this is sex linkage
If a gene occurs on the X chromosomes of females,
as they have two alleles, they are not affected
If a gene occurs on the X chromosome of a male, as
they have one allele of X and Y, they are affected
Thus, it can be concluded that recessive disorders
will appear more frequently in males

Sex determination and relation to sex linkage |

Co-dominance
Sex determination is the sepration of chomrosomes
during meiosis that recombine during fertilisation In codominance is when both alleles are expressed,
to determine if the offspring is male of female creating new phenotype

Note that: Where both alleles behave as dominant alleles

Femles have 44 autosomes + XX
Males have 44 autosomes + XY
Recap: during meosis, cells divide ( cells are halved
) until there are 4 haploid cells (gametes) that
contain 23 chromsomes
because they are both expressed
For instance: Pure-breeding (homozygous) cattle
may have a red or white coat colour
Hybrid individuals (heterozygotes), which have one
allele for red and one for white coat colour with a
roan appearance

Incomplete dominance
Incomplete dominance is the blending of two
alleles expressed, producing a hybrid
Special notation is used to present alleels that does
not show complete dominance ( written as
superscripts )
For instance: Red snap dragon flowers crossed with
white snapdragon flowers give pink flowers
Multiple alleles
Individuals usually have 2 alleles for each gene
however, there may be three or more alleles for a
single gene trait, termed as multi-allelic
For instance: The gene for human blood type has
three alleles in the population A, B and O
To represent multi-allelic blood groups using
correct genetic notation’
Population genetics | represent frequencies of
characteristics in a population chapter 5.4
The genetic similarities and differences may be
determined by the phenotype, in order to do this
scientists, examine frequency data in genetic
studies this including:
 The study of population genetics
 The gene pool
 Genetic diversity and genetic variability
Population genetics combines Mendelian genetics
and Darwinian evolution to explain how changes in
allele frequencies arise in populations and how
these changes can lead to microevolution and
macroevolution
Population geneticists’ (gene pool) studies
mathematical changes in gene and allele
frequencies in populations to develop quantitative
ways of exploring different evolutionary
hypotheses
Allele frequency (genetic diversity) is a measure of
how common an allele is in a population:
Analysing single nucleotide polymorphism (SNP)
The term polymorphism refers to individuals with
different phenotypes. Polymorphisms usually arise
as a result of a mutation – an error in DNA
replication
A single nucleotide polymorphism (SNP) is like a
typing error in DNA, rising during DNA
replication, where a single nucleotide is
incorrectly inserted
An important note to make is that the term
"haplotype" can be referred as the inheritance of a
cluster of single nucleotide polymorphisms (SNPs)
Hence, a haplotype is a cluster of marker alleles on
the same chromosome and can be used for
association studies in disease and to track the
inheritance of different regions of the genome
In other words, SNPs are useful in genetic studies
as they are ‘genetic markers’ currently used to
distinguish disease susceptibility in individuals
Inheritance patterns in a population | chapter 2.5
Inquiry question: Can population genetic patterns
be predicted with any accuracy?
 Investigate the use of technologies to
determine inheritance patterns in a
population using:
Watson and crick were able to determine the
sequence of genes along DNA, using DNA
sequencing and DNA profiling
Which are ultimately technological uses to
determine inheritance patterns
DNA sequencing and profiling:
DNA sequencing determines the exact
nucleotide sequence of a gene on a chromosome.
There are several methods to do so via manual
methods:
 Sanger chain termination
 Maxam-Gilbert method
 Automatic DNA sequencer
Sanger method:
British Fred Sanger and his team used this method
to determine DNA sequences.
The process by which follows:
Firstly, isolate the DNA from cells of the organism
where the sequencing reactions produce fragments
of DNA, after this DNA is sorted by length (using
capillary electrophoresis), and finally results are
analysed by computer
The computer will then isolate and replicate,
however using the polymerase chain reaction the
sequencing reactions are begun forming the exact
nucleotide sequence of a gene on a chromosome
The Maxam – Gilbert method
The Maxam-Gilbert method of DNA sequencing
involves chemical sequencing of the DNA strand
No longer widely used for DNA sequencing, but
still has important applications in the further study
of DNA structure
The method involves chemical reactions specific to
the 2 groups of bases pyrimidines (C and T) and
purines (A and G)
The process by which follows:
Radioactively labelling one end of the DNA, where
the chemicals and conditions are then modified to
suit a base. Followed by this the DNA strand is
cleaved (cut) at this site
The DNA fragments formed then undergo gel
electrophoresis, and when all patterns from the gel
electrophoresis are compared the sequence of the
bases on the DNA strand can then be determined
DNA profiling
Known as DNA fingerprint analysis, is a scientific
technique used to identify and compare individuals
by characteristics in their DNA
Useful tool in forensic investigations, paternity
testing and other biological applications
For instance, in humans, the section of our DNA is
called STRs which are ‘short tandem repeats’. They
are sections of non-coding DNA that are repeated
many times over (i.e TATATAT)
The number of repeats at any given location in the
noncoding regions of DNA gives rise to the
different DNA profiles
The use of population genetics data in
conservation management | chapter 2.6
Population genetics is the study of genetic variation
within a population, and the changes in the
frequency of genes and alleles within a population
and among populations over time
Mendel’s and Darwin’s work forms the basis of
population genetics, in showing that some alleles
are selected as they confer greater survival
advantage than others
Conservation genetics looks at how genes are
inherited in a population, in order to avoid
extinction of species by applying conservation
methods that ensure the maintenance of
biodiversity
Genetic analysis using large-scale data including
GWAS, SNPs and haplotypes provides detailed
information about genetic diversity in a population
Haplotype networks map the different haplotypes
in populations

The extinction of the woolly mammoth on Wrangel

Island can in part be attributed to a severe decrease
in genetic diversity due to small population
numbers

The control region of mitochondrial DNA in koalas

was analysed to determine the different lineages
and genetic diversity in koalas in eastern Australia

The southern lineage of koalas demonstrates the

lowest genetic diversity compared with the lineages
from north-eastern NSW and Queensland, which
demonstrate high levels of genetic
diversity

Population genetics studies used to determine the

inheritance of a disease or disorder | Chapter 2.3

The prediction of genetic susceptibility to disease

has traditionally been based on family background
and pedigree analysis

Large-scale screening and DNA analysis can have

a significant impact on individuals through
early detection and improved treatment options.

The Human Gene Mutation Database (HGMD)

stores comprehensive information about germline
mutations associated with human inherited diseases

Analysis of large-scale genetic information can be

used to predict the inheritance of a disease or
disorder

population genetics relating to human evolution |

chapter 2.4

Anthropological genetics is the science of using

genetic data to understand human evolution

Humans have more genetic diversity within a

population than between populations

Until recently, our understanding of human

evolution was based on fossil evidence, which is
both incomplete and subject to interpretation

The two models used to explain human migration

are the Multiregional hypothesis (MRE) and the
Replacement hypothesis

Genetic data favours the Replacement hypothesis

that modern humans evolved out of Africa and
spread across the other continents