How does reproduction ensure the continuity of a species?

Syllabus points for mechanisms of reproduction that ensure the continuity of a species:
Animals: advantages of external and internal fertilisation
Plants: sexual reproduction

Sexual Reproduction
➔ Genetic variation ensures continuity of a species so that they can adapt to and not all
organisms are susceptible to the same selective pressures
➔ Male and female gametes have half the number of chromosomes (haploid cells) (23
chromosomes) so when they combine they have a full 46
➔ Most of the energy and food is inside of the egg cell

➔ Sexual reproduction involves the union of a male gamete (sperm) and a female gamete
(egg/ovum)
➔ They form a diploid zygote
➔ Formation of gametes occurs by meiosis in reproductive organs called gonads
◆ Male gonads = testes
◆ Female gonads = ovary
➔ Aim of gonads is to produce haploid cells for reproduction
➔ Offspring are composed of diploid cells (2n) that carry one set of chromosomes (n) from each
parent
➔ Eggs are large, immobile cells (no flagella) that contain the food stores needed for the
development of an embryo
 ◆ Fimbriae sweep the egg from the ovary to the fallopian tube
➔ Sperm have a tail for mobility (flagella) and contain limited food reserves (they can get
nutrients from semen)
➔ After fertilisation, two haploid cells fuse to form a diploid zygote
◆ Zygote is a fertilised ovum
● Zygotes period is about 4 days
● On the 5th day, it becomes a blastocyst through mitosis
● Inner cells of the blastocyst form the embryo and the outer cells nourish and
protect the embryo
● Embryo lasts between 2 weeks after conception to the eight week
● At 9 weeks, foetal period begins
➔ Zygote divides by mitosis to produce a large number of cells forming an embryo
➔ The embryonic cells differentiate to form the specialised tissues that make up a foetus

Advantages of sexual reproduction

➔ Introduction of variation: species survive and reproduce in changing environment
◆ Allows greater adaptability and evolutionary potential in changing environment
◆ Pool of genetic variation in a population facilitates selection of beneficial traits and
elimination of unfavourable traits (survival of the fittest)
Disadvantages of sexual reproduction
➔ In both plants and animals, energy must be used to produce gametes and ensure that
mature gametes are brought together at the right time
➔ Time consuming, slow, energetically costly and risky (physical harm to the female)
➔ Providing parental care and protection for offspring is a substantial investment of time and
resources, shortening lifespan of parents

*can be internal or externally fertilised

Plants

Sexual reproduction in seed-producing plants:

- Seed cones of the gymnosperm plant
- Flower plants of the angiosperm plant

Gymnosperms
➔ Gymnosperms are vascular, non-flowering seed plants
◆ Eg. pine, spruce, fir, cedar trees
➔ The seeds are produced by cones instead of flowers and when mature they’re exposed rather
than surrounded by a fruit
 ➔ Mostly wind pollination (because they don’t have colours to attract pollinators), pollen is very
light and moves through wind

Development
➔ Sporophyte (the asexual and usually diploid phase, producing spores from which the
gametophyte arises) : the (usually) diploid multicellular individual or generation of a plant
with alternation of generations that begins from a diploid zygote and produces haploid
spores by meiotic division
◆ Sporophytes turn into gametophytes
◆ It’s diploid when it’s young or when it’s already gone through the process
➔ Haploid stage inside protective (woody) cone (female)
Reproduction
➔ Separate female (seed cone) and male (pollen cone) cones
➔ Small pollen grains (microspores) develop in male cones, when released are transported by
wind to female cone which contains megaspores (like the ovary)
➔ Pollen tube in the female cone grows towards the ovule of the female pine cone (this process
can take up to 2 years). 2 microspores in the ovary: one generative that forms the pollen tube
and the other main sperm
➔ Mature haploid sperm moves along pollen tube to the megaspore, where it fertilises the
haploid egg to form a diploid zygote

1. Adult sporophyte grows in a forest

2. Seed cones (female) and pollen cones (male) are produced *seed cones are higher for
wind
3. Pollen cones release pollen (male gametophyte) (microspore) (n)
4. Pollination: pollen lands on a seed cone
5. Female cone will burst and release the seeds (sporophyte (2n)) which are dispersed and
grow into mature trees

➔ It takes 2 or more years from the haploid stage of pollination to the diploid stage of
fertilisation and release of the seeds
➔ Gymnosperms won’t release the seeds unless the climate is ideal (ie. if it is raining, they will
close the cone)

Angiosperms
*draw flower diagram to the flower given in the practical
 ➔ Most flowers contain both male and female reproductive organs and are known as bisexual
(eg. rose, tea tree, mango)
◆ Can self-pollinate in scarcity
➔ Some flowers are unisexual, with male and female reproductive organs on separate flowers
(eg. zucchini, maize)
◆ Must rely on pollinators for cross-pollinators
➔ Being bisexual, flowers must ensure they don’t self-pollinate
◆ This would reduce the genetic variation in the offspring
◆ Maturation of anthers and stigma at different times, to make sure there is limited
self-pollination
◆ Stigma at the top of the pistil is sticky at different times to when pollen of same flower
is mature
◆ Plants may reject its own pollen, preventing pollen tube from growing

Pollination and Fertilisation

➔ Wind, insects or birds carry out pollination in most plants
◆ Less common: bats, water
◆ Pollinators determine things like the height of the anther/filament
➔ Pollination occurs when haploid male pollen grain lands on a receptive female stigma and
begins to grow a tube
◆ Endosperm is the flesh around the seed
◆ Double fertilisation in angiosperms ONLY
 ➔ One of the cells in the pollen grain produces a tube (tube cell) that penetrates the surface of
the stigma. This is closely followed by the generative cell (one that fuses with egg cell to form
diploid zygote)
➔ The endosperm plays an important role in supporting embryonic growth by supplying
nutrients, protecting the embryo

Double fertilisation

In the egg cell → one reproductive cell (megaspore, diploid) → undergoes meiosis → forms 4
haploid megaspores → 3 disintegrate → remaining one will undergo mitosis to form 8 haploid
nuclei → cell wall develops around each nuclei → 3 antipodal cells form at ends of the egg cell
opening → 2 central polar nuclei (form endosperm) → 2 adjacent synergid cells on either side of
the egg cell

2 male cells→ Male tube cell forms pollen tube → the following generative cell (haploid) splits by
mitosis to form 2 generative cells→ first generative cell moves into the ovule and the second goes
to the polar nuclei to form a triploid cell (will form the endosperm)

➔ Synergid cells are two specialised cells that lie adjacent to the egg cell in the female
gametophyte of angiosperms and play an essential role in pollen tube guidance and function
➔ The two central cell maternal nuclei (polar nuclei) that contribute to the endosperm, arise by
mitosis from the same single meiotic product that gave rise to the egg
➔ The pollen tube carries two sperm cells and grows down through the style, in a nutritional
tissue, towards the ovary, where it reaches the ovule
➔ In the ovule, the egg fuses with one of the two sperm cells, forming a diploid cell that grows
into a seed
➔ Central cells (2 polar nuclei) in the ovule combine with the second sperm cell (to form a triploid
cell) (3n) and then divide rapidly to provide tissue called endosperm that nourishes the
developing embryo inside the seed.
➔ The female gametophyte of most flowering plants form four cell types after cellularisation,
namely synergid cell, egg cell, central cell and antipodal cell. Of these, only the antipodal cells
have no established functions, and it has been proposed that in many plants, the antipodal
cells undergo programmed cell death during embryo sac maturation and prior to fertilisation

Seeds and Fruit

➔ After fertilisation, the ovule develops into a seed protected by a tough outer seed coat
➔ This involves the ovule expanding, endosperm forming, zygote undergoing series of mitotic
divisions to produce a multicellular embryo
◆ Self-pollination vs cross-pollination (both are sexual reproduction)
 ➔ All cells are diploid
➔ Embryo develops seeds, leaves (cotyledons), a root top, epidermal and vascular tissue
➔ As the ovule changes into a seed, the ovary containing the ovule becomes a mature fruit
➔ Fruits protect the seeds and enhance seed dispersal. Some fruits contain a large store of
nutrition to feed the seed after it germinates
➔ Seed dispersal
◆ Following pollination and fertilisation of the flowers of a plant, seeds (fertilised ovules)
from inside the ovary are dispersed (abiotic or biotic)
◆ Advantages
● Prevent overcrowding
● Decrease competition for light, water, soil nutrients
● Increased chance of species continuity (possible fires, disease, drought)
◆ Dispersal Mechanisms
● Dry fruits “explosive” mechanisms by air, wind, water. Often light to be able to
float on air and water
● Fleshy fruit: needs insects, birds, mammals. They eat the fruit and travel and
egest the seeds, often far from parent plan

➔ Germination
◆ The plant embryo inside a seed is in a dehydrated form and is dormant, to allow the
seed to survive adverse conditions
◆ If the seed lands in suitable soil that provides sufficient water, oxygen and warmth, it
germinates- that is, the embryo begins to grow, producing a radicle or young root to
absorb water and soil nutrients, as well as a plumule or young stem, which develops
green leaves for food production by photosynthesis
◆ Once the seedling becomes established, it grows and develops into an adult plant
that can begin the reproductive cycle once again

Animals

➔ There are two types of sexual reproduction

◆ Internal fertilisation (more energy expenditure)
◆ External fertilisation (release more gametes than internal)
External Fertilisation
➔ Occurs when a haploid male sperm fertilises a haploid female egg outside of the female’s
body, before dehydration occurs
➔ Performed by most aquatic animals or in moist environments (earthworms, most fish, coral,
amphibians)
➔ Spawning
 ◆ In amphibians and bony fish, the female lays unfertilised eggs in water and the male
waits nearby to deposit sperm onto the eggs
◆ On tropical reefs once a year, coral colonies have synchronised mass spawning
events (salinity, water temperature etc. would impact mass spawning times)
◆ Invertebrate coral polyps in one area release eggs and sperm simultaneously
◆ Expelling eggs and sperm at the same time, coral increases likelihood that
cross-fertilisation takes place
◆ When an egg is fertilised by a sperm, it develops into a coral larva called a planula
➔ The chances of gametes meeting cannot be controlled, however their chances can be
increased by
◆ Cyclical reproductive behaviours
◆ Synchronised timing of gamete production and release
◆ The development of courtship and mating behaviours in animals (eg. pheromones-
chemical that attracts and triggers the other to release gametes)
➔ Examples
◆ Bony fish: the females of most species of marine bony fish produce eggs (or ova) in
large batches and release them into the water. This is generally followed by the males
releasing their sperm into the area of water containing the eggs. This is where the
union of gametes occurs.
◆ Staghorn coral: Colony of invertebrate marine animals that shed millions of gamete
into the sea. Water temperature, tides, day length help synchronise cycles.
Pheromones are released simultaneously, stimulating nearby organisms to spawn
◆ Amphibians: Gametes from both males and females are released through the cloaca
(false penis). Among the frogs and toads, the male grasps the female and discharges
fluid containing sperm onto the eggs as they are released into the water
● Southern Gastric Brooding Frog
○ The eggs of the terrestrial frog were fertilised by sperm externally in a
watery environment, then the female swallows the eggs, with the
young developing internally in the female’s stomach. Young frogs are
then regurgitated through the mouth

Advantages Disadvantages

- Less energy expenditure compared to - Lower likelihood of the union of

internal fertilisation. No caring for the gametes, as the organisms cannot
young and expend energy for gestation control the meeting of the gametes
- Does not impact the health of the - Gametes are more susceptible to
female(?) external factors eg. predators, currents
- Usually more rapid (larger number of - Must take place in an aquatic
 gametes produced) and prolific environment (to prevent dehydration)
- Female can continue to reproduce while - More gametes need to be produced
first young develop
- Young are widely dispersed, reducing
competition with parent and with each
other

Internal Fertilisation
➔ Internal fertilisation is when the male transfers his gametes directly into the female’s body
through a tube
➔ This copulation places semen, containing sperm, in the female’s reproductive tract
increasing the chance of egg fertilisation
➔ Fertilisation occurs when the chromosomes in the sperm’s head pair up with those in the egg,
forming the diploid zygote
➔ Development of zygote continues internally using mitotic division
◆ Note: oviparous animals lay eggs that have undergone little to no embryonic
development within the mother eg. birds, reptiles, amphibians, insects
● Crocodiles: female crocodiles lay large yolky eggs in clutches along
sandbanks. Sufficient food resources until shell cracks and they make their
way to the water. Produce eggs with a hard shell that is lined with a
membrane to prevent drying out (amniotic egg)
● Birds: All birds practise internal fertilisation, though most male birds lack a
penis. They rub their cloca’s against each other transferring the sperm to the
female’s body. In some of the larger birds (eg. swan) the male cloaca extends
to form a false penis. When fertilised, the ovum passes through the oviduct
(tube that the ovum takes when it goes from the ovary) and other glands
secrete yolk, and protein. Calcium carbonate shell is secreted and hardened
when in contact with air.
◆ Viviparous animals undergo embryonic development within the mother and are born
as live young
● Mammals:
○ Monotremes: Fertilisation internally and deposited outside of the
body to complete development. Fertilise eggs in the nest, pouch.
Obtain milk from mammary glands
○ Marsupials: Develop internally for short time, continue embryonic
development in a pouch
○ Eutherians: (placental mammals): internal fertilisation, young
completes embryonic development inside the body in the uterus
Internal Fertilisation
 Advantages Disadvantages

- Larger chances of fertilisation, as the - More energy expenditure

movement of the gametes is relatively - Must be direct; involves finding a
controlled (through the tube) partner
- More ideal conditions inside the body of - Higher chance of sexually transmitted
the organism, so there is a higher diseases being spread
likelihood of the zygote surviving - Limited amount of offspring that can be
- Less chance of gametes being produced at once
dehydrated - Risk to the body of the female
- Can take place on land - Usually slower with fewer progeny
- Gametes and zygotes are protected - Mating rituals and practices are more
from predation and disease complex
- Developing young are fed and protected - Parental care of young may be lengthy
increasing their chance of survival and demanding

Characteristics External fertilisation Internal fertilisation Similarities

Gametes Large no. produced Large number of male Both produce gametes
gametes and fewer in their bodies
female gametes
produced

Union Occurs in open water Occurs inside the Produces a diploid

environments reproductive tract of zygote
the female in
organisms that live
mostly or completely
on land

Conception Simultaneous release Copulation: the male Sperm will fertilise

Mechanisms of gametes inserts sperm into the eggs when in very
female's reproductive close proximity to each
tract via penis or other
cloaca

Chance of fertilisation Low, because male High, because male If male and female
gametes are released gametes are released gametes are in close
into a large open area into a confined space proximity, fertilisation
where there is less where there is more will usually occur
chance of successfully chance of successfully
uniting with female uniting with female
gametes gametes.
 Environment for zygote Usually external, in a Usually internal, in a Zygote requires a
watery environment very protected watery environment
that is vulnerable to environment in the for development
environmental female’s body.
elements Temperature is
controlled and there is
less chance of
predation, infection
and loss of zygote from
the area

Number of Usually a larger A smaller number of Zygote number is

offspring/zygotes number, but many offspring, because determined by the
zygotes perish and so very few perish (higher number of sperm and
a smaller number of success rate) ova that successfully
offspring survive fuse

Breeding frequency More frequent due to Seasonal and less Breeding frequency
the lower fertilisation frequent due to higher depends on the
success rate fertilisation success requirements of the
rate and greater species and the
energy costs favorability of
environmental
conditions

Male Reproductive system

➔ Paired testes, held inside scrotum, that produces and stores mature sperm
 ➔ Seminiferous tubules→ where sperm cells form
➔ Epididymis → stores sperm cells
➔ Prostate, seminal vesicles, Cowper’s glands→ accessory glands that produce secretions
➔ Vas deferens→ duct from testes to urethra
➔ LH from pituitary gland→ stimulate secretion male steroid hormone, testosterone
➔ Penis→ male organ that carries urine and sperm (not at same time) to outside the body
➔ Diploid Spermatocytes form in testes→ divide by meiosis → four haploid sperm cells →
mating process→ sperm moves through vas deferens to urethra→ secretions of accessory
organs added making seminal fluid which causes sperm to be motile, provides alkaline
nutritious medium rich in protein, ions, vitamins, fructose sugar
➔ Sperm head has nucleus with haploid set of chromosomes and a cap (acrosome) that has
enzymes that penetrate outer layer of the female egg
➔ Mitochondria in midpiece produce ATP for energy during journey

Female Reproductive System

 ➔ Single uterus→ fertilised eggs implants in uterine wall (endometrium lining), placenta forms,
foetus develops, controlled by hormones
➔ Paired ovaries→ hold oocyte (immature eggs) until puberty with monthly ovulation
➔ Paired fallopian tubes→ connect ovary to uterus
➔ Cervix→ narrow, muscular canal lined with mucus, connects uterus and vagina. Controlled by
oestrogen during menstruation
➔ Vagina→ canal from cervix to genitals, birth canal, menstrual flow
Hormones
➔ Hormones are chemical messengers in the body coordinating body functions
➔ The pituitary gland, master gland, secretes hormones that stimulate/inhibit other endocrine
glands
➔ Effect only on target organ, through recognition of certain receptors
➔ Hormones in mammalian reproduction
◆ Androgens (testosterone): male hormone, produced by cells in testes.
● Primary role: spermatogenesis (produce sperm).
● Control development and functioning of male sex organs. Secondary sex
characteristics eg. male voice, growth/thickness of hair, size of muscles and
bones
◆ Oestrogen: female hormones
● Primary role: ovarian functioning: fertility
● Control development and functioning of the female reproductive system.
Secondary sex characteristics eg. enlarged breasts, pubic hair, widened hips
◆ Progesterones: female hormone
● Primary role: pregnancy, stimulating stimulation of milk in mammary glands,
and decrease in level initiates menstruation
Menstrual Cycle
➔ Cycle of changes in ovaries is accompanied by a cycle of changes in the uterus called the
menstrual cycle
➔ Menstrual cycle starts with menses, lasts 4 days
◆ Endometrium breaks down and tears away = bleeding
◆ First day of menstruation = beginning of follicular phase, which ends on day of
ovulation
➔ After ovulation, corpus luteum is enlarging in the ovary, secreting progesterone and
oestrogen in the bloodstream
◆ Progesterone acts on target cells in the uterus preparing the endometrium for
implantation and pregnancy
◆ Endometrium becomes highly vascularised
➔ If pregnancy proceeds = uterine wall maintained by secretion of progesterone and oestrogen
(first produced by CL then by placenta)
Stage Time span (days) Event

Menstruation 4 Uterine bleeding, shedding of

endometrium

Pre-ovulation 5-13 Endometrial repair begins;

development of ovarian follicle,
uterine lining gradually
thickens

Ovulation 14 Rupture of mature follicle,

release of the mature egg

Secretion 15-25 Corpus Luteum is forming,

secretion of watery mucus by
glands in endometrium,
movement, breakdown of
unfertilised egg

Pre-menstruation 26-28 CL undergoes Apoptosis,

deterioration of endometrium
(start of menses)

Pregnancy Hormones
➔ Hormones are signalling molecules responsible for the communication between organs and
tissues
➔ Hormones transmit signals to their target cells by altering specific biochemical reactions in
cells
➔ The target cells have matching surface receptor for particular hormones
➔ Two major hormones: oestrogen and progesterone
◆ Progesterone is secreted by the corpus luteum during early stages of pregnancy, as
placenta develops it takes over the production of progesterone. Roles include
● Increasing blood flow to womb (stimulate growth of blood vessels)
● Stimulating endometrium to produce mucus by the cells lining the
endometrium which supports attachment and nourishment of placenta
● Preventing contraction of uterus
● Preventing lactation (these decrease once the baby is coming out)
● Preventing immune response (uterine contraction) that may destroy foetal
cells
◆ Oestrogen is required for
 ● Stimulating growth of endometrium of uterus
● Correct foetal development, particularly lungs, liver and kidneys
● Stimulating growth of breast tissue in preparation for lactation
◆ HCG maintains the corpus luteum in the early stages of pregnancy
◆ Relaxin softens the pelvic ligaments to allow for stretching of pelvic joints during
pregnancy and labour

Birth
➔ For birth to occur, the following must happen
◆ The muscles in uterus must contract to expel the baby
◆ The tissue of cervix must soften so cervix can dilate to pass baby through
➔ Prostaglandins are secreted by the wall of uterus, which initiates labour
➔ They act on tissue in uterus, making it more sensitive to the hormone, oxytocin
➔ Oxytocin
◆ Promotes coordinated contraction of smooth muscle of the uterus ad softening of
cervix
◆ Hormone, relaxin also aids in softening of the cervix
◆ Progesterone and oestrogen levels decline, contractions become stronger
◆ Positive feedback mechanism
➔ Increases in contractions produces a beta-endorphin which acts as a natural pain relief
➔ A surge of adrenaline is released closer to birth, causing very strong contractions = birth
➔ After birth, oxytocin production continues to expel the placenta
➔ Prolactin is produced in the pituitary gland, this stimulates milk production in breasts

Male Reproductive Cycle

➔ Spermatogenesis involves the interaction of three glands:
a. Hypothalamus in the brain
b. Pituitary gland
c. Leydig cells in testes
➔ LH stimulates production of testosterone and FSH stimulates production of a protein by
Seritoli cells in the testes, to maintain testosterone at level high enough to promote
spermatogenesis
➔ Inhibin reduces levels of FSH in the body
Fertilisation
➔ Sperm are attracted to the egg by rheotaxis; movement of sperm through fluid
➔ Presence of progesterone and an alkaline pH cause sperm to mature and penetrate the egg
➔ The egg has 3 layers
 a. First layer: sperm physically push through (assisted by enzymes from follicle cells
present)
b. Second layer: Zona Pellucida: crosome comes in contact with glycoproteins releasing
enzymes that help penetrate
c. Third layer: cell membrane. Surface proteins allow only ONE sperm in. Enzymes
release by the egg that destroy the glycoproteins in the Zona Pellucida and cause
electrical changes, preventing entrance of other sperm
Implantation
➔ Cleavage
◆ Commences following the penetration of the egg by the sperm
◆ Rapid cell proliferation; hundreds of smaller cells by mitosis
➔ Morula
◆ Early embryo, which continues to divide
◆ 3-4 days later it consists of 16 cells, that enters the uterus (blastocyst)
◆ Unspecialised embryonic stem cells
➔ Blastocyst
◆ In uterus, mitotic divisions continue, becoming a blastocyst and differentiating
◆ Day 8-9 multicellular blastocyst ready to attach to uterus wall
◆ Outer layer sends out finger-like projections and inner layer consists of mass of cells
that will form the embryo
➔ Gastrula
◆ After implantation, gastrulation occurs (5 days) and the blastocyst becomes a
gastrula
◆ Gastru;la becomes an embryo, then a foetus

Asexual Reproduction
Syllabus points for
➔ Plants: asexual
➔ Fungi: budding, spores
➔ Bacteria: binary fission
➔ Protists: binary fission, budding

➔ Only one parent is required, where all genetic material of parent is passed down to offspring
➔ Results in genetically identical offspring to parent
➔ Advantages
◆ Reproduce quickly, not having to find a partner
 ◆ Asexual reproduction among plants is more common in harsh environments where
organisms are so specific that there is little benefit in having variation within the
population
◆ Competitive advantage for organisms that live in a well adapted to environment
➔ Selective pressure that make asexual reproduction an advantage:
◆ Food/resource shortage: less energy needed to produce offspring
◆ Small mating population, time, and other constraints to finding a mate
➔ Disadvantages
◆ Little/no variation, making them vulnerable to sudden changes in the environment

Plants

Vegetative Propagation
➔ Type of asexual reproduction in plants
➔ Growth of specialised plant tissues that can grow into a new plant if it becomes separated
from the parent plant
➔ Arise from parts of parent plant such as leaves and stem
➔ Some adult plants produce vegetative organs such as bulbs, tubers, rhizomes and suckers to
allow for new plants to arise
➔ Offspring are genetically identical to the parent
➔ Perennating organs are underground organs such as roots or stems that contain stored food
to sustain the plant in a dormant state
◆ They wait underground until the conditions above ground are favourable
➔ Buds on deciduous trees are considered to be organs of perennation, as they store nutrients
when their leaves drop

➔ Runner (stolons)
◆ Runners are long, thin modified stems that grow along the surface of the soil.
◆ Leaves, flowers and roots are produced at every alternate node on the stem runner
◆ Beyond each second node, the tip of the node turns up and thickens, producing new
roots and a new shoot that continue the runner
◆ Stolons connect the nodes
◆ Advantage: Can spread rapidly
● eg. strawberry, spinifex grass (leaves and roots are produced, subdividing
the runner into new plants)
➔ Rhizomes: modified stems
◆ Underground, horizontal, modified stems that give rise to new shoot at each node
◆ Rhizomes are known to survive fire and drought, laying dormant underground until
good growing conditions are available
● Eg. ginger, germs (bracken fern), grasses
◆ Note: nodes are where asexual reproduction takes place

➔ Suckers
◆ The roots of some plants produce modified roots called suckers or sprouts, which give
rise to new plants
◆ Suckers can emerge when a tree is water stressed or as a natural response to
warmer weather and moisture
◆ In case the parent plant dies, the offspring may be able to survive and sustain those
harsh conditions
● Eg. reed, blackberries, aloe vera
➔ Tuber
◆ Swollen underground stems with buds that easily grow into new plants
◆ Function is to store nutrients
◆ Can be cut into pieces and re-grown if they still contain an eye (where a new potato
can grow from)
● Eg. potato, yam
➔ Bulb and corm
 ◆ Corms are very similar to bulbs but lack the layered scales that characterise true
bulbs
◆ Bulbs are short stems with a fleshy leaf or leaf base. From this base, roots can grow
● Eg. daffodils, lilies, onions
◆ Corms are enlarged underground stems that store nutrients, surrounded by papery
outer layers eg. crocus, taro
➔ Cutting/fragmentation
◆ Broken pieces of branch regenerate into identical new plants
● Eg. weeping willow tree in Australia
➔ Apomixis (includes parthenogenesis in animals)
◆ Fertilisation not involved
◆ Generative tissue in the form of gametes (unfertilised ovules, non-reproductive tissue
(leaf tissue))
◆ Generative tissue gives rise to plantlets that can produce asexual seeds
● Eg. kangaroo grass, lemon and orange trees
◆ Advantages: rapid multiplication, producing seeds increasing seed dispersal
◆ Disadvantages: lack of variation
◆ Also includes parthenogenesis in animals (eg. starfish)

Other Organisms

Budding
➔ In reproductive budding, an adult organism gives rise to a small bud, which separates from
the parent and grows into a new individual
◆ Eg. yeast, hydra
➔ As this outgrowth enlarges, the parent cell replicates its DNA, the nucleus then divides and
one copy moves into the bud or daughter cell
➔ When the daughter cell reaches a certain size, it detaches from the parent cell and continues
to grow, until its buds in turn
➔ Occurs in multicellular organisms organisms like jellyfish and hydra
➔ In protists
◆ When budding occurs the offspring may stay attached to the parent, causing a
colony to form
◆ Budding is the most common type of multiple fission in protists. The daughter nucleus
is created and splits from the parent, taking some of the cytoplasm of the protist cell
with it
➔ How does budding occur? (extra)
● A bud is an outgrowth that develops from the original parent cell
 ● The parent cell will develop to a certain size and with consideration to
surface-area-volume the parent cell will then develop an outgrowth where the
cytoplasm and newly divided nucleus and cell components will move into
● This new outgrowth will grow in size and split off the parent cell and form the
daughter cell
● The cells between the daughter cell and parent cell will die in order for the
bud to fall off and the parent cell to continue living

Binary fission
➔ Splitting into two. Main method of asexual reproduction in unicellular organisms such as
bacteria (prokaryotes) and protists (unicellular eukaryotes)
➔ A newly divided cell grows to twice its size, replicated its genetic material (DNA) and then
splits into two cells with identical genetic material
➔ Advantage of enabling rapid population growth over a short period of time in adverse
conditions, as it requires only one parent. However, no genetic diversity is generated
➔ In bacteria
◆ When reproducing asexually, a bacterial cell can double in number every twenty
minutes in favourable environmental conditions, thereby ensuring a rapid increase in
numbers
◆ The prokaryotic cell grows to full adult size, then replicates its single DNA molecule
and each copy of the DNA attaches to opposite ends of the cell membrane
(chromosomal DNA and varying amounts of plasmid DNA)
◆ Proteins will pinch the cytoplasm and a new cell wall is synthesised
➔ In protists
◆ Type of binary fission that involves mitosis and the formation of a spindle within the
cytoplasm of the cell to distribute chromosomes equally eg. amoeba
Spores
➔ Spresa are tiny, unicellular reproductive cells that are produced in great numbers by
organisms such as fungi (moulds and mushrooms) and some plants (mosses and ferns)
➔ Structures called sporangia produce very large numbers of spores, which are light and easily
dispersed, travelling long distances by wind
➔ Fungi
◆ An example of spore formation in a fungus occurs in the black mould Rhizopus
nigricans
◆ Fungi can reproduce sexually and asexually. When environmental conditions are
favourable, fungi reproduce asexually
◆ Sporangia develop as specialised tips of hyphal threads. They have numerous
haploid nuclei, which develop into microscopic spores that are white at first and then
turn black as they ripen
 ◆ Under favourable environmental conditions, fungal spores germinate, absorbing
water through the wall, which activates the cytoplasm to grow
◆ Nuclear divisions occur, more cytoplasm is produced and the spore grows into a new
mycelium
◆ If fungus is well adapted to a particular habitat, it is advantageous for it to conserve
its genome and not introduce changes
◆ Other advantages of asexual reproduction are that fungus requires fewer nutrients
and expends less energy. Retaining its adaptive advantage through sexual
reproduction ensures the continuity of the species in its habitat

Cell Division
➔ Cells divide to replace old, dead and damaged cells
➔ They also divide to allow living things to grow
➔ The cell cycle
◆ Cell division and enlargement occurs repetitively in the cell cycle
◆ Mitosis is one part of the cycle that takes 1-2 hours
◆ A large amount of time is spent preparing the cell for division (interphase)
(condensing)
◆ Depending on the type of cell, there are two ways cells divide; mitosis and meiosis
➔ Cancer: uncontrollable cell division with mutation
➔ Structure of Chromosomes
◆ Sister chromatids joined by a centromere, inside the centromere is a protein called a
kinetochore (point of attachment of spindle fibres)
◆ 46 sister chromosomes on each side of the cell
● The 3 C’s
○ Centromere: region of chromosome where microtubules attach to the
kinetochore during cell division
○ Centrosome: organelle found close to the nucleus, which contains
centrioles. Known as the main microtubule organising centre, has
microtubules inside that attach to the centromere
○ Centriole: cylindrical organelles involved in the development of
spindle fibres
➔ Mitosis overview
◆ Mitosis is the division of somatic (non reproductive) cells
◆ Two daughter cells are produced that are genetically identical to the parent cell. They
are called diploid (2n) (46 chromosomes)
 ◆ This includes most of body’s tissues, organs, skin, muscles, lungs, hair etc
◆ Limitations; no genetic variation, susceptibility
➔ Importance of mitosis
◆ Plays an important role in growth of organism egg→ embryo, infant→ adult
◆ Repair of damaged tissue and replacement of worn out cells
◆ Asexual reproduction; same number of chromosomes as parent cell
◆ Genetic stability; precise no. of chromosomes as each other and parent cell
Stages of mitosis
➔ Interphase/early prophase
◆ Occurs in S phase where DNA replicates, diffuses and spreads out (can’t recognise it
as individual chromosomes)
◆ In early prophase, DNA begins to separate into chromosomes
➔ Prophase
◆ Chromatin material shortens and condenses by coiling (so it doesn’t tangle) and the
DNA separates out into chromosomes, which are now visible with light microscope
◆ Each chromosome contains two copies of the DNA and is called a sister chromatid
joined by a centromere
◆ Nuclear membrane no longer visible, spindle forms and extends across the cell
◆ Centrosomes duplicate and move to opposite ends of the cell (so that the centrioles
can eventually draw the chromosomes apart)
➔ Metaphase
◆ Chromosomes align in the middle of the cell called metaphase plate, each attached to
the spindle fibres by a centromere
◆ Spindle fibres extend and some push the edges of the cell to make it larger
➔ Anaphase
◆ Spindle fibres contract and the chromosomes are pulled by their centromeres to
opposite ends of the cell
◆ Cleave the protein in the centromere, pulling sister chromatids apart
◆ Chromatids become a chromosome (sister chromosomes)
➔ Telophase
◆ Daughter chromosomes gather at opposite poles of the cell
◆ Pinching of cytoplasm
◆ Spindle fibres disintegrate
◆ Chromosomes can decondense
◆ Nuclear membrane and nucleolus reappear
◆ Result in two nuclei with chromosomes identical to each other and to original parent
cell nuclei
◆ Nuclear membrane forms around two nuclei
➔ Cytokinesis
 ◆ The complete separation of cytoplasm, forming two separate identical daughter cells
◆ In animal cells: cytoplasm constricts in cell centre pinching it off
◆ In plant cells: cell plate forms while nucleus is still in telophase
● Note: plants don’t have centrosomes or centrioles
Meiosis Overview
➔ Meiosis is a type of cell division where gametes (sperm and egg) are produced
➔ The result is 4 identical daughter cells, called haploid (n) cells. This occurs in two divisions
(unlike mitosis, which only has one)
➔ This takes place in the reproductive organs
➔ Two divisions
◆ Meiosis 1: reduces number of chromosomes by half
◆ Meiosis 2: similar to mitotic division
➔ Importance of meiosis
◆ Responsible for formation of sex cells (gametes)
◆ Crossing over produces new combinations of traits
◆ This leads to an increase in genetic variation→ genetic diversity in population --->
maintaining a population eg. susceptibility to disease, some people may not develop
this disease as they have a different genetic makeup that prevents them from
contracting it or getting sick etc.
Stages of Meiosis
Meiosis 1

➔ Homologous chromosomes are separated into two cells

➔ 2 daughter cells are produced in the end that are haploid to parent to cell
➔ Prophase 1
 ◆ Chromosomes condense and pair up into homologous pairs (one maternal and one
paternal) (early) (pair up with relatively same size)
◆ Nuclear membrane breaks down
◆ Crossing over occurs: genetic variation occurs (exchange of genetic material
between homologous pairs)
◆ Spindle fibres appear and move chromosomes towards centre of cell
➔ Metaphase 1
◆ Homologous pair of chromosomes (not identical chromosomes) line up at the
metaphase plate for separation
◆ Independent assortment happens here, orientation is random
➔ Anaphase 1
◆ Homologues are pulled apart and move to opposite ends of the cell
◆ Sister chromatids of each chromosomes remain attached to one another
◆ Random segregation happens here
➔ Telophase 1
◆ Chromosomes arrive at opposite poles
◆ Nuclear membrane reforms and chromosomes decondense (in some cells)
◆ Cytokinesis happens at the same time, forming two haploid daughter cells
➔ Cytokinesis 1
◆ Daughter cells are not identical to each other and have half of the original number of
chromosomes
Meiosis 2
➔ Sister chromatids within the two daughter cells separate, forming four new haploid gametes
➔ Prophase 2
◆ If chromosomes decondensed, they will condense again
◆ If nuclear envelope formed, they begin to break down here
◆ Centrosomes move to opposite ends, new spindles form
◆ Nuclear envelope fully breaks down and spindle fully formed
➔ Metaphase 2
◆ Sister chromatids align at metaphase plate
◆ Spindle fibres attach to the centromeres
➔ Anaphase 2
◆ Sister chromatids pulled apart by the kinetochore microtubules and move to opposite
poles
➔ Telophase 2
◆ Chromosomes arrive at opposite poles and begin to decondense
◆ Nuclear envelope form around chromosomes
◆ Cytokinesis separates two cells into four haploid cells
◆ Spindle fibres disintegrated
 Mitosis Meiosis

Genetic Recombination Mitosis does not change the Meiosis rearranges genetic
genetic information information between
(chromosomes do not cross chromosome pairs, creating
over) unique genetic variation
(chromosomes cross over)

Number of cells Mitosis produces two Meiosis produces four

genetically identical daughter genetically unique daughter
cells cells

Number of chromosomes The daughter cells produced The daughter cells produced
from mitosis have the same from meiosis (n) (23
number of chromosomes (2n) chromosomes)
as the parents

Location Occurs in all parts of the body Only occurs in the gonads to
to replicate somatic cells produce gametes from germ
cells

DNA Replication and Polypeptide Synthesis

How important is it for genetic material to be replicated exactly?
DNA
➔ Deoxyribonucleic acid is a double stranded helical molecule, resembling a ladder. Sides of
the ladder are sugar-phosphate groups, and steps are the bases.
➔ We need to replicate DNA for genetic stability and to make proteins
➔ Comprised of subunits called nucleotides
➔ One nucleotide contains a sugar, a phosphate and a base
➔ Sugar; called deoxyribose. Each one has a phosphate and a base attached
➔ 4 different DNA bases: adenine, guanine, cytosine, thymine (complementary nucleotide
bases AT and GC)
➔ DNA is a large molecule. To enable a large amount of DNA to be stored in the nuclei, each
strand is tightly coiled around structural proteins called histones. Together this material is
known as chromatin.
➔ Chromatin can be packaged into more condensed structures. The first level of packaging is
the wrapping of DNA around histones to form a bead-like structure known as a nucleosome.
 There are also non-histone proteins within chromosomes which assist in the unwinding of
the DNA strand and with its repair if needed.
➔ When are chromatin at their most condensed? When it’s about to replicate
➔ Information is stored in the sequencing of bases (A, G, T, C) along the DNA molecule
➔ A gene is a particular sequence of bases. Different genes have different sequences and are
of different lengths along a chromosome. Genes that occur on the same chromosome are
said to be linked.
◆ Gene for eye colour, allele of blue, brown etc.
➔ A gene carries enough information to make one polypeptide

DNA Replication
➔ The production of two identical double stranded molecules of DNA from one original double
helix molecule
◆ DNA takes place before cell division so that each cell can receive one full and exact
copy of the coded instructions that control the basic life functions of the cell.

1. The DNA double helix unwinds

a. Each DNA molecule is a double-stranded helix. An enzyme called Topoisomerase
causes the DNA helix to progressively unwind

2. DNA unzips- that is, the two strands separate

a. The weak hydrogen bonds break between the complementary bases of the
nucleotides on opposite strands and the two DNA strands are broken by the enzyme
helicase exposing the nucleotide bases. If you think of DNA as a ladder, each rung
splits down the middle, creating a replication fork- beyond this point, the DNA
resembles a flat ladder where the sides are made of a sugar-phosphate backbone
and the runs are formed by complementary base pairs .

3. Nucleotides are added to each single strand

a. Each separate strand of the existing DNA molecule acts as a template for the
production of a new strand of DNA. Nucleotides (units made of
sugar-phosphate-base) are picked up by the enzyme DNA polymerase III and slotted
in opposite their complementary base partner on each of the existing strands. These
nucleotides are picked up from a pool of nucleotides in the nuclear sap
b. Each separate strand of the DNA molecule acts as a template for the production of a
new strand of DNA
c. For synthesis to be initiated, a short strand of RNA needs to be made (called a primer)
d. RNA primers are made by the enzyme primase
 e. Enzyme DNA polymerase III adds DNA nucleotides from the nuclear sap, to continue
the synthesis of the new strand
f. The strands in a double-stranded DNA molecule run in opposite directions
g. Each DNA strand has a 3’ end and a 5’ end (3 prime, 5 prime)
h. Nucleotides are added in the 3’ to 5’ direction (leading strand) as opposed to the
lagging strand
i. On one strand of DNA, nucleotides are added in a long chain, growing in the same
direction as the replication fork opens up
j. This is called the leading strand, where replication is continuous, towards the
replication fork
k. On the lagging strand, nucleotides are added in “chunks” called Okazaki fragments,
from the replication fork backwards
l. Replication is discontinuous and the fragments are joined up by an enzyme called
ligase (like glue), to form a continuous strand
m. Once all the nucleotides have been added and replication is complete, the RNA
primer is removed
n. The gaps where they were, are filled with nucleotides by DNA polymerase I
o. Single strand binding proteins makes sure the single strand of DNA doesn’t break

- Replication errors are identified and corrected. DNA polymerase I is an enzyme that
proofreads and edits the strand, filling in the gaps.
- Lastly, the two new strands are sealed together by the enzyme called ligase
- Final base pairing is checked by another DNA polymerase
- The result of DNA replication is two DNA molecules consisting of one new and one old
chain of nucleotides. Semi-conservative strands.

Lagging Strand
➔ Numerous RNA primers are made by the primase enzyme and bind at various points along
the lagging strand (because it’s in chunks there are numerous)
➔ Chunks of DNA, called Okazaki fragments, are then added to the lagging strand also in the 5’
to 3’ direction
➔ This type of replication is called discontinuous as the Okazaki fragments will need to be
joined up later
➔ Once all of the bases are matched up (A with T, C with G), an enzyme called exonuclease
strips away the primers. The gaps where the primers were are then filled by yet more
complementary nucleotides, by an enzyme called DNA polymerase I
➔ The new strands is proofread to make sure there are no mistakes in the new DNA sequence
➔ Finally, an enzyme called DNA ligase seals up the sequence of DNA into two continuous
double strands
 ➔ The result of DNA replication is two DNA molecules consisting of one new and one old chain
of nucleotides. This is why DNA replication is described as semi-conservative, half of the
chain is part of the original DNA molecule, half is brand new
➔ Following replication the new DNA automatically winds up into a double helix

Continuity of Species
➔ Preserving genetic information: favourable characteristic passed from parent to offspring
(daughter cell)
➔ Accurate DNA replication = genetic stability
➔ Mutation = genetic variation (not always harmful)
➔ Variation is important to evolution, however, genetic stability is important for the survival of
the individual
Genetic Continuity
➔ Genetic continuity preserves genetic information through
◆ Cell division by mitosis: two identical daughter cells
◆ Sexually reproducing organisms must have offspring with same number of genes as
parent
➔ It ensures that all new cells have the genes they need to survive

Sexual reproduction→ mix of characteristics

Asexual reproduction→ characteristics from one parent
At genetic level, stability arises when chromosomes are replicated accurately

Protein Synthesis
➔ Proteins are large, complex macromolecules made up of one or more long chains called
polypeptides
➔ Each polypeptide chain consists of a linear sequence of many amino acids joined by peptide
bonds
➔ The sequence and arrangement of amino acids determines the configuration of the protein
➔ Codon = 3 amino acids in a sequence
➔ DNA never leaves the nucleus (it is too big to fit through the pores). Since the DNA instructions
must remain in the nucleus, an intermediate molecule- messenger RNA (mRNA)- is creates;
this carries transcribed copy of the relevant instructions from the nucleus to the ribosomes in
the cytoplasm
➔ The ribosomes can be considered as the machinery that translates the message carried by
the mRNA into a cell product such as protein
➔ CENTRAL DOGMA
◆ DNA→ (transcription) (nucleus) RNA →(translation) (ribosomes in cytoplasm) Protein
➔ Chemicals in Protein Synthesis
◆ DNA
● Consists of long chains of nucleotides (sugar, phosphate, one nitrogenous
base) wound into a double helix
● Double stranded
● Backbone made of sugar, deoxyribose and phosphate group
● Nitrogenous bases adenine, thymine, guanine, cytosine
◆ RNA
● Single stranded (most of the time)
● The sugar in RNA is ribose sugar
● RNA has the nitrogenous base uracil (U) instead of thymine (T)
● 3 types of RNA
○ mRNA: function as an intermediate molecule, carrying information
from DNA in the nucleus to the ribosomes in the cytoplasm
○ tRNA, transfer RNA: RNA molecule that helps decode a messenger
RNA sequence into a protein
○ rRNA, ribosomal RNA: these complex structures, which physically
move along an mRNA molecule, catalyse the assembly of amino acids
into protein chains

1. An enzyme, RNA polymerase binds to a part of the DNA called the promoter allowing for the
DNA to start unzipping (helicase)
➔ The DNA unspirals, hydrogen bonds between the two strands break, and the strands
separate over a short length
 ➔ One of these strands forms the template for transcription. The base of the mRNA is
complementary to it. This is called the non coding strand. The other strand is the coding
strand.
2. Transcription of the gene occurs, controlled by the enzyme RNA polymerase: the non-coding
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
4. Translation: the ribosomes move along the mRNA molecule, and, as they do so, they attach
tRNA molecules by temporarily parking the bases of the tRNA anticodons with their
complementary triplets of bases (codons) on the mRNA. The tRNA has the anticodon.
5. The amino acids are linked together by another enzyme to form a polypeptide chain (they
also have polypeptide bonds). The amino acids are then spliced off their tRNA carriers.
6. The tRNAs move away from the mRNA, leaving the growing chain of amino acids and move
back into the cytoplasm where they can pick up another amino acid and be reused. (note:
mRNA also get reused,but broken up)
7. The polypeptide chain may be joined by one or more other polypeptides; they are further
processed and folded into their correct shape, forming a protein
8. The mRNA is broken down into its individual nucleotides which can be reused in the nuclear
sap.

RNA processing
➔ mRNA that is transcribed from DNA is called pre-mRNA (not allowed to leave the nucleus until
mature)
 ➔ pre-mRNA contains coding sequences of nucleotides, called exons, which are translated into
amino acid chains
◆ Exons are expressed as proteins
◆ Between these exons are nucleotides sequences called introns; these do not code for
amino acid assembly
◆ Right after transcription, mRNA is spliced and introns are removed by a molecule
called a spliceosome
◆ This forms a mature mRNA molecule, which moves into the cytoplasm
◆ The instructions for splicing the mRNA is found in the introns
◆ A strand of mRNA from one gene is not always spliced in the same way
◆ This creates different versions of the same protein
◆ Ie. different forms of immunoglobulin that have similar structure and function but are
not identical allow for better defence.
◆ Eukaryotes have a lot of non-coding DNA called “junk DNA”. because they have no
known purpose. Possible uses:
● Regulating which genes are expressed in particular cells
● Determines whether or not certain genes are read

Structure and Function of Proteins

➔ Proteins are made up of long chains of amino acids known as a polypeptide chain
➔ They fold in a particular way, bind with other molecules (shape and chemical properties)
allowing them to carry out their function.
➔ Chemical structure
◆ Proteins contain carbon, hydrogen, oxygen and nitrogen (sometimes sulphur)
◆ There are 20 amino acids that can be arranged in a chain up to 300 amino acids
long
◆ These chains are held together by peptide bonds
➔ Physical structure
◆ Four main levels of protein structure: primary, secondary, tertiary and quaternary
Hierarchical Structure
Primary Structure
➔ Polymer of amino acids, arranged in linear chains. Called primary structure. Held together by
peptide bonds
➔ The sequence of a protein is determined by the DNA of the gene that encodes the protein
➔ Eg. hormone insulin has two polypeptide chains A and B (they are linked together by
sulphur-containing bonds between cysteines. These bonds are an important part of insulin’s
overall structure, they are not part of its primary structure

Secondary structure
➔ The secondary structure is the 3D arrangement of the
polypeptide chain. Forms when amino acid chain becomes linked
by hydrogen bonds, twisting the polypeptide into either a spiral
(alpha helix) (eg. fibrous protein) or folding it into a pleat sheet

➔ More folding leads to a tertiary structure

➔ The tertiary structure is primarily due to interactions between the
R groups of the amino acids that make up the protein. Examples
of R group interactions include hydrogen bonding, ionic bonding etc. R groups determine
whether it is hydrophobic or hydrophilic, hence whether it wants to be on the inside or
outside of the tertiary structure
➔ Forces of attraction between alpha helices and pleated sheets (eg. disulfide bonds) cause the
polypeptide to fold into a more complex 3D structure
➔ This is a special type of covalent bond. Covalent linkages between the sulphur-containing
side chains of cysteines, are much stronger than the other types of bonds that contribute to
tertiary structure

➔ Quaternary protein structure occurs in proteins made up of two or more polypeptide chains,
called subunits that link to form a more complex 3D structure
➔ Some proteins, called conjugate proteins, are linked to a non-protein part called a cofactor
➔ If cofactors are tightly bound, it is called a prosthetic group (organic or inorganic metallic ion)
➔ Eg. haemoglobin contains inorganic iron as its prosthetic group
➔ If a cofactor is loosely bound to an enzyme, it is known as a coenzyme (organic molecule such
as vitamin)
➔ Primary structure of a protein determines the secondary and tertiary structure of the protein
➔ If an incorrect amino acid is inserted in a polypeptide chain, this can lead to changes in the
bonding properties which may change its secondary, tertiary and quaternary structure
➔ Protein may become less functional or lethal
➔ Example: Sickle cell anaemia (shrivelled cells, cannot hold oxygen efficiently)
◆ Inherited RBC disease
◆ Single amino acid change in protein haemoglobin
◆ Glutamate→ valine
◆ Distorts the shape of haemoglobin protein, affecting ability to carry oxygen

➔ Types of proteins in cells

◆ Fibrous proteins: form structural components of cells and tissues. Long and insoluble
in water
● Eg. collagen, keratin
◆ Globular proteins: spherical, compact and soluble in water
● Usually transport proteins eg. haemoglobin
 Fibrous Globular

Shape Long and narrow Round/spherical

Function Structural Functional

Amino acid sequence Repetitive amino sequence Irregular amino acid sequence

Durability Less sensitive to changes in More sensitive to changes in

pH, temperature pH, temperature

Examples Collagen, myosin, fibrin Enzymes, haemoglobin,

immunoglobulin

Solubility Insoluble in water Soluble in water

Function of Proteins
➔ Structural proteins: support and movement
◆ Often fibrous and stringy and found in connective tissues such as skin, cartilage,
bone, tendons, ligaments
◆ Tubulin is a structural protein responsible for forming to cytoskeleton, which
maintains cells shape
◆ Microtubules allow for movement eg. cilia and flagella
◆ Contractile proteins allow movement
◆ Eg. actin slides along myosin (protein) to allow for muscle contraction
➔ Enzymes: control biochemical reactions
◆ Catalyse reactions in respiration and digestion
◆ Important in gene function, replicating and transcribing DNA to make proteins
➔ Cell communication, cell signalling and recognition
◆ Some proteins embedded in the membrane form channels to carry substances
necessary for cell functioning
● Eg. nerve cells
➔ Transport and storage proteins
◆ Some proteins can bind to and carry or store chemicals in the body
◆ Known as ligand-binding proteins (ligand is the chemical)
◆ Eg. haemoglobin has an affinity for oxygen
➔ Sensory proteins- responding to stimuli
◆ Some proteins change their shape in response to stimuli
◆ Eg. opsins in the retina detect light. When light is absorbed, opsin is rearranged,
starting a series of chemical reactions, transforming electrical and chemical signals
Prokaryotic and Eukaryotic DNA
Prokaryotic DNA
➔ Location and Structure
◆ Single chromosome in form of circular strand of DNA
◆ No membrane surrounding it
◆ In the nucleoid (region of the cytoplasm)
◆ Circular, double stranded prokaryotic DNA is not a helix, it is two circles of
single-stranded DNA twisted on each other
◆ Cytoplasm contains ribosomes, not bound by a membrane and are involved in
protein synthesis
◆ Because DNA is joined in a circle, unlike linear chromosomes in eukaryotic cells, it
does not have the protective end regions called telomeres (role in ageing process of
eukaryotic cells)
◆ Capsule prevents it from drying itself out
➔ Packaging prokaryotic DNA
◆ Circular chromosomal DNA is 1300 um long. This needs to fit into cells that are 3um
long
◆ Circular DNA is supercoiled forming loops around a protein (scaffold)
◆ Prokaryotic cells do not have histone proteins used to condense DNA (in eukaryotes)
◆ Gene expression occurs in cytoplasm, where transcription and translation occurs
amongst the DNA in the cytoplasm
➔ Non-chromosomal DNA
◆ Known as plasmids, floating separately in cytoplasm
◆ Double stranded DNA molecule, different to chromosomal DNA
◆ Genes on plasmid are not essential for survival, but provide bacteria with selective
advantages, such as antibiotic resistance

Eukaryotic DNA
➔ Location and Structure
◆ Located in a membrane-bound nucleus
◆ Arranged in chromosomes (larger and more complex than prokaryotic)
◆ Large portion of non-coding (DNA not used to make proteins or RNA) introns
◆ Role of introns?
◆ Coding sequences in DNA exons
➔ Packing of DNA
◆ Linear, winds around proteins (histones) tightly
◆ Forms nucleosomes (bead-like structure made up of long sequences of DNA wrapped
around eight histone proteins)
 1. DNA is complexed with histones to form nucleosomes
2. Each nucleosome consists of 8 histone proteins around which the DNA wraps
1.65x
3. The nucleosome fold up to produce a 30nm fibre so there is one million nm in
a mm
4. The fibre forms loops approx 300nm long
5. The 300nm loops are compressed and folded to produce 250nm wide fibre
6. Tight coiling of 250nm fibre produces the chromatid of a chromosome
➔ Non-nuclear DNA eukaryotes
◆ Mitochondria and chloroplast contain their own DNA. This is called non-nuclear DNA
◆ mtDNA can be used to trace maternal inheritance
◆ Sperm cells have little cytoplasm. Egg cells contribute all the cytoplasm (and the
organelles)
◆ As mitochondria have their own DNA, they replicate independently of the nucleus, all
mitochondria in a female lineage have identical mtDNA
● If you have the same mother, then all offspring (male or female) will have
identical mtDNA
◆ mtDNA
● Small, circular, 37 genes
● Advantages
○ Inherited only from mother
○ No paternal and maternal gene mixing as with nuclear DNA
○ Large numbers in cell; easy to access and sample
● Purpose:
○ Mitochondrial function in respiration
○ Instructions for making molecules (tRNA) and (rRNA)

Prokaryotic Eukaryotic

Chromosomal DNA is in a region of cytoplasm Chromosomal DNA is in the nucleus, which is

called the nucleoid, lacking a membrane. One separated from cytoplasm by a double-layered
chromosome per cell membrane. There are multiple chromosomes
per cell of diploid and haploid

A circular chromosome without ends (telomeres) Linear thread-like chromosomes with ends
(telomeres)

Contains plasmids- small circular DNA Contains no plasmids but there are other
sources of DNA apart from chromosomes-
mtDNA, chloroplast DNA
 There is much less DNA than in eukaryotes Much more DNA than in prokaryotes

Less non-coding DNA (introns) than in More non-coding DNA (introns) than in
eukaryotes prokaryotes

DNA is in a region called the nucleoid but not DNA is tightly packaged- coiled around histone
packaged into an organelle proteins forming nucleosomes which condense
to form chromatin and packaged as
chromosomes

Similarities
➔ Both have double stranded DNA twisted into a double helix, built from bases A T G and C
➔ Both have mRNA

Inheritance Patterns
Syllabus Point
➔ Outline the formation of new combinations of genotypes produced during meiosis,
autosomal, sex-linkage, codominance, incomplete dominance and multiple alleles

➔ Gregor Mendel (1822-84)- the father of genetics

Terms used to describe inheritance

➔ Genes on chromosomes determine characteristics inherited (heredity unit found on
chromosome)
➔ Alleles are different forms (alternatives) of the same genes that occur in pairs
➔ Alleles are found in identical positions (loci) on pairs of homologous chromosomes
➔ Diploid individuals have two alleles of each gene, haploid cells have only one allele of each
gene
➔ Phenotype is the outward appearance of an organism and is determined by the sum of the
genes (and environment)
➔ Genotype is the combination of genes in an organism

Experimental Outline
➔ Mendel experimented with garden pea plants, investigating their breeding patterns to
determine the inheritance of characteristics (traits)
 ➔ Pea plants were ideally suited because they can be easily grown and cross-bred, have a
short life cycle (they are annual plants) and both male and female plants are present in their
flowers
➔ Eliminating experimental error. Mendel controlled the breeding lines of his experiments in the
following way:
◆ To ensure pure-breeding lines (homozygous dominant or recessive): over a period of
2 years, he ensured that the pea plants would self-pollinate by using plants with
flowers that had both male and female parts enclosed within one flower
◆ To ensure cross-breeding: for each cross, Mendel manually transferred pollen from
the anthers of one pure-breeding plant to the stigma of the contrasting
pure-breeding plant, but he first removed the anthers from the recipient plant to
ensure that it could not accidentally undergo self-pollination

Mendel’s experimental Summary of Mendel’s work and Significance of Mendel’s

techniques his results results and his explanations

1. To establish pure Tall x Tall = all offspring tall All offspring of pure breeding
breeding lines, he did lines resemble their parents
this using male and Short x short = all offspring
female parts enclosed short
within same flower

2. Crossing pure-bred to Purebred tall x purebred short Offspring F1 are called hybrids
create hybrids. He and resemble only one parent.
cross-bred two plants F1: all offspring tall They characteristics of the
with contrasting pure parent they resemble are
bred characteristics dominant and the other is
masked, called recessive

3. Cross bred two F1 Hybrid tall x hybrid tall When two hybrid plants cross,
hybrid individuals to = 3 tall, 1 short one characterstic (dominant)
carry out a monohybrid 3:1 appears 3 times while the other
cross. Some underwent appears once
self-pollination others
cross pollination, as all
were hybrids

Conclusion- during 3:1 ratio of resulting tall to short

reproduction, two offspring
 factors segregate and
each passes into a
separate gamete.
When the two gametes
combine during
fertilisation each
contributes one factor
to offspring

➔ A breeding experiment that looks at the inheritance of only one characteristic is known as a
monohybrid cross. The offspring of a cross are known as the F1 or first filial generation
➔ In the F2 generation, most of the plants were tall but some were short. Mendel found that the
ratio of tall to short was approximately 3:1. This is known as the monohybrid ratio
➔ The characteristics of an organism are determined by factors in pairds. Only one member of
the pair can be represented. Offspring inherit one factor from each parent
➔ When two hybrids breed, statistically they will produce a ratio of three offspring showing the
same trait as the parents (termed the dominant trait) to one offspring showing the contrasting
recessive trait
➔ Mendel called the traits that pass from one generation to the next (factors) today we call them
genes and we call contrasting forms of the same gene “alleles”. Eg. tall and short are alleles
for the height gene
➔ Genotype determines the phenotype
➔ Organisms that contain identical alleles in their gene pairs are homozygous. Pure-breeding
lines are always homozygous for a given characteristic. (homozygous dominant or recessive)
➔ When a pair of differing alleles (eg Tt) occurs in an individual (a heterozygote) and only one of
the alleles is expressed (visibly appears in the organism), this allele is known as the dominant
allele
➔ The allele which is not expressed is called the recessive allele
➔ Phenotype is determined by the genotype and also environmental factors

Punnett Squares
➔ A punnett square is a model used to represent inheritance patterns such as autosomal
inheritance, as shown in Mendel’s monohybrid cross
◆ They are basically outcomes of random segregation
➔ Punnett squares are often used to calculate the probability that a genetic defect will be
inherited by offspring of two parents of known genotype
➔ Punnett squares make it easy to establish all the possible combinations of alleles carried by
the gametes and, therefore, all the possible genotypes of the offspring
 ➔ Genotypic and phenotypic ratios are used to express the expected frequency of genotypes
and phenotypes in the offspring from a genetic cross
➔ The ratio of genotypes in the offspring is written in the following order
➔ Homozygous dominant: heterozygous: homozygous recessive
➔ The ratio of phenotypes observed in the offspring is written as dominant phenotype:
recessive phenotype (note: always put ratio in punnett square, has to be enclosed grid with
ruler, always big letter first, eg 4Tt : 0TT : 0tt,

Sex linked Crosses (X-linked crosses)

➔ Phenotypic expression of the allele that depends on the sex chromosome
➔ Expression and inheritance patterns differ between males and females
➔ Insects also follow an XY sex-determination pattern and like humans, Drosophila males have
an XY chromosome pair and females XX. eye colour in flies was one of the first X-linked traits
to be identified, and Thomas Morgan mapped this trait to the X chromosome in 1910
➔ Eg. haemophilia
◆ Mutation in the genes of X chromosome (inability to clot blood)
◆ In females, both X chromosomes need to have a mutant gene for haemophilia to
occur
◆ In males, presence of a single mutant X chromosome (in their XY) is enough to cause
haemophilia. Males cannot be carriers, they either have it or not. (X chromosomes
come from the mother and the Y comes from the dad, so it must come from the mother)

Test Cross
➔ You cannot tell immediately if an individual with a dominant phenotype is homozygous, as it
may be either AA or Aa
 ➔ Test cross;
◆ This involves crossing an individual with the dominant phenotype (heterozygous or
homozygous) with an individual with the recessive phenotype
◆ If the offspring have all the dominant genotype, then both the parents are likely to be
homozygous
◆ If the offspring have both dominant and recessive phenotypes, then the parent with
the dominant phenotype must also carry a recessive allele and is therefore
heterozygous
Pedigree
➔ Allows for easy scientific analysis of the inheritance of genetic traits within families
➔ Use a ruler, include generations in roman numerals
➔ Include a key: circle for female, squares for males, shaded if they have the condition, carrier
half-shaded or dot in middle), number the individuals from left to right within the generation)
(they won’t give you all the information, just because it is shaded, doesn’t mean that is the
only affected individual- most questions are incomplete)

➔ Mendelian dominant pattern (autosomal)

◆ Pattern of inheritance of hypercholesterolaemia (abnormally high levels of cholesterol
in blood)
◆ The gene concerned has two alleles with abnormally high blood cholesterol
◆ A detail pattern of inheritance of a dominant trait includes the following features
● Both male and females can be affected
● All affected individuals have at least one affected parent
● Transmission can be from both fathers and mothers to both daughters and
sons
● Once the trait disappears from a branch of the pedigree, it does not reappear
● In a large sample, approximately equal numbers of each sex will be affected
◆ Other dominant traits include Huntington's disease and Familial Alzheimer's disease
➔ Mendelian recessive pattern (autosomal)
◆ Pattern of inheritance of albinism
 ◆ A pattern of inheritance of a recessive trait includes the following features
● Both males and females can be affected
● Two unaffected parents can have an affected child (parents are
heterozygous)
● All children of two parents with the condition must also show the condition
● The trait may disappear from a branch of the pedigree but reappear in later
generations
● Over a large number of pedigrees, there are approximately equal numbers of
affected females and males
◆ Other mendelian recessive traits include cystic fibrosis, type 1 diabetes and
phenylketonuria
➔ X-linked dominant pattern
◆ Pattern of inheritance of vitamin D rickets that is dominant, and controlled by a gene
located on the X chromosome
◆ A pattern of inheritance of an X-linked dominant trait includes the following features
● A male with the trait passes it on to all his daughters and none of his sons
● A female with the trait may pass it on to both her daughters and her sons
● Every affected person has at least one parent with the trait
● If the trait disappears from a branch of the pedigree, it does not reappear
● Over a large number of pedigrees, there are more affected females than
males
Note: always provide evidence through punnett squares

➔ X-linked recessive pattern

◆ Pattern of appearance of favism (disorder of RBC being destroyed when they come in
contact with certain agents that can be found in broad beans etc)
◆ A pattern of inheritance of an X linked recessive trait includes the following features
● All the sons of a female with the trait are affected
● All the daughters of a male with the trait will be carriers of the trait and will
not show the trait; the trait can appear in their sons
● None of the sons of a male with the trait and an unaffected female will show
the trait, unless the mother is a carrier
● All children of the two individuals with the trait will also show the trait
● In a large sample, more males than females show the trait
◆ Other X-linked recessive traits include haemophilia and fragile X syndrome

Incomplete dominance
➔ A condition in which the phenotype of the heterozygous genotype is distinct from and often
intermediate to the phenotypes of the homozygous genotypes
 ➔ There is a blending of features of the 2 alleles expressed, producing a hybrid
◆ Eg. red snapdragon flowers R1R1 x white snapdragon flowers R2R2, give pink flowers
R1R2
● Half the amount of pigment of R1, and R2 carries no pigment
◆ If the F1 plants (R121) generation are crossed, an F2 generation with a 1:2:1 genotypic
ratio would be expected
◆ This ratio is different to the 3:1 ratio of two phenotypes observed in complete
dominance
● Eg. tulips

Codominance
➔ A condition in which both alleles of a gene pair in a heterozygote are fully expressed, with
neither one being dominant or recessive to the other
◆ Eg. pure-breeding (homozygous) cattle may have a red or white coat
● Hybrid individuals (heterozygous) which have one allele for red and one for
white have a roan appearance, both red and white hairs present, not in
patches but interspersed.

◆ Eg. andalusian chickens: if a homozygous black gowl is crossed with a homozygous

white fowl, the heterozygous offspring in the F1 generation appear blue. These
chickens have both black and white feathers.

Multiple Alleles
➔ There are more than two alleles for a gene within the population at a specific loci
➔ Multiple alleles show codominance, where both alleles express themselves without one
repressing the other
➔ The gene controlling human ABO human groups has three alleles, not just two, and they
co-dominate
◆ I^A and I^B are not dominant over one another
 ◆ Both are dominant over I^O

SNPs (Single Nucleotide Polymorphism)

🐾 An SNP occurs when one nucleotide is replaced by another
🐾 Usually arise during DNA replication, where a single nucleotide is incorrectly inserted,
creating an error in nucleotide sequence
🐾 SNP’s must occur in at least 1% of the population to be termed SNPs
🐾 Can be associated with phenotypic change, eg. change in appearance, enzyme function,
susceptibility to disease
🐾 Many occur in non-coding regions of DNA → no differences
Uses
🐾 Genetic Markers
◆ Rather than sequencing the entire gene to determine whether the diseased allele is
present, a low cost and faster method is looking for the SNPs associated with the
diseased allele
◆ Some genetic markers are associated with specific disorders so it can be used to
distinguish individuals, and disease susceptibility in people
◆ Genome-wide association studies (GWAS) is a data bank of SNP genetic markers,
where records are being built to record the association between the presence of
specific markers and certain diseases
● Based on the presence of a group of SNP markers (haplotype) associated
with a trait, instead of linking an individual SNP to a trait. Haplotypes
applications:
○ Indicators of disease
○ Establish family lineage
○ Study evolutionary relatedness
● SNP data is reliable when
○ The regions selected are evenly distributed throughout the genome
○ Genetic markers that are closer are more accurate
Testing for SNPs
🐾 Free newborn testing for SNPs associated with phenylketonuria, congenital hypothyroidism,
cystic fibrosis, galactosaemia and fatty acid oxidation.
🐾 Early detection, improved treatment options
🐾 Generating data about occurrence of specific genetic conditions in a population
Limitations
🐾 Scientists have found that many biological questions can be answered using smaller regions
of the genome that show polymorphisms. This data is reliable as long as the regions selected
are fairly evenly distributed throughout the genome
🐾 Selection of mariners is also important, genetic markers that are closer together give more
accurate data
🐾 If there is crossing over during meiosis, the SNPs on a chromosome might not all be inherited
together (can unlink a snp from a diseased gene reducing the accuracy)
🐾 Single SNP analysis cannot confirm disease, multiple are required
The Sanger Method
The Order of Nucleotides in a Gene Is Revealed by DNA Sequencing | Learn Science at Scitable

Short Tandem Repeats

- An STR contains repeating units of a short (typically 3 or 4 nucleotides) DNA sequence
- Forensic science takes advantage of the population’s variability in STR lengths, enabling
scientists to distinguish one DNA sample from another
- The system of DNA profiling used today is based on PCR (Polymerase chain reaction) (millions
of copies) (like covid pcr tests yk)
- Unrelated people almost certainly have different numbers of repeat units, STRs can be used
to discriminate between unrelated individuals
- These STR loci (locations on a chromosome) are targeted with sequence-specific primers
and amplified using PCR
- The DNA fragments that result are then separated and detected using electrophoresis
- Uses
- DNA profiling in criminal law: criminals can leave behind evidence containing dna
- Positive impact: can match a section of DNA found at a crime scene to the DNA of a
potential suspect. Used to prove innocence of people who may have otherwise been
convicted
- Negative impact: can be used to determine paternity of a child to possible father.
DNA samples from mother and child are compared with potential fathers. This can
cause relationship breakdown etc.

Population Genetics
Can population genetic patterns be predicted with any accuracy?
🐾 Gene flow and drift
◆ Genetic diversity results from global spread and adapting to the environment
 ◆ Introduction of new alleles may result due to mutations and migration
🐾 Population genetics; how a population changes over time
🐾 Distribution of genetic variation is analysed through factors that cause increases or
decreases in allele frequency in a population
🐾 Factors that cause changes in allele frequency within a population:
◆ Selective pressures
◆ Mutation
◆ Sexual selection (being able to pick favourable traits)
◆ Genetic drift
● Random fluctuations of allele frequency in a population due to chance eg.
earthquakes, floods etc.
● The occurrence of an allele increases or decreases by chance over periods of
time
● These can be measured in changes in allele frequency
● Impacts small populations more dramatically because there is a greater
chance a rare allele will be lost
● Two types of genetic drift
○ Founder effect: small group leaves population and carries with it new
gene frequency. Results in a difference in allele frequencies between
a parent and founder populations. The alleles become different due to
them being subjected to different selective pressures in a new
environment
○ Bottleneck effect: random reduction in population due to a random
event, predators, diseases or climate change. Population numbers
and diversity dramatically decrease and although their population
number recovers, their diversity won’t. Eg. bushfire wipes all white
rabbits then all brown alleles are left due to chance.
◆ Gene flow
● Movement of genes of individuals and transfer of their genetic material from
one population to another of the same species (migration)
● This changes the composition/frequency of the gene pool
● This increases variability and makes new traits appear (introduces new
alleles)
● This does not change allele frequencies of a species as a whole, however, it
does alter allele frequency in the local population, creating less differences
between populations

What is population genetics

🐾 Study of how the gene pool of a population changes over time, leading to evolution
 🐾 The gene pool is the sum total of all the genes and their alleles within a population
🐾 Population genetics study variations in these alleles within the gene pool and how they
change from generations
🐾 Variation can be affected by the size of the population, mutation, natural selection, genetic
flow, genetic drift, environmental diversity, genetic recombination
🐾 There are bi-allelic genes (two variants within a population)
🐾 Allele frequency can be calculated by counting the number of copies of an allele in a
population and then dividing by the total number of copies of all alleles of the gene
🐾 The frequency of two alleles can be represented by symbols p and q
🐾 These symbols maintain constant gene frequencies as long as there are no mutations, a
large population size, no selective mating, no migration (this is an assumption)

Hardy-Weinberg Principle
🐾 Based on idea that the frequency of alleles in a population remains constant from one
generation to the next if the following aren’t acting
◆ Mutation
◆ Sexual selection
◆ Genetic drift
◆ Gene flow
🐾 The following assumptions are believed:
◆ Alleles are equally beneficial (no such thing as sexual selection)
◆ Mating is random
◆ No mutation occurs
◆ No immigration, emigration occurs
🐾 Allows scientists to find relationship between the phenotype and the actual frequency of the
genes in a population
🐾 There are a number of limitations in the model that are often not met in real life
🐾 Two of the main contributors to population genetics were
◆ Gregor Mendel: each parent gives one copy of each allele to offspring
◆ Charles Darwin: natural selection is the driving force for evolution
Hardy-Weinberg Principle
🐾 Allele frequencies remain constant in a population unless there is an external force
🐾 5 assumptions
# No selection
# No mutation
# No migration
# Large population
# Random mating
 🐾 Unrealistic, because there is generally a favourable characteristic
🐾 p+q=1 (allele frequency)
# P= dominant allele frequency
# q= recessive allele frequency
# Note: dominant are not always more common than recessive
🐾 p^2 + 2pq + q^2 = 1 (genotype frequency)
# p^2 is homozygous dominant
# 2pq is heterozygous
# q^2 is homozygous recessive

Population genetics and conservation management

🐾 Aim of such programs is to avoid extinction of species through conservation methods that
ensure maintenance of biodiversity
🐾 Conservationists will undergo field observation, sampling and statistical analysis looking at
distribution and abundance
🐾 They determine relationships and identify individuals that could be reintroduced into a pop
for recovery
🐾 Geneticists study past events and use the data to develop models to assist in the
conservation of endangered species
🐾 Woolly Mammoth Extinction
◆ In 2015, scientists conducted a complete DNA sequence comparing two historical
samples of the woolly mammoth
◆ Their aim was to determine whether there was a reduction in genetic diversity due to
inbreeding in the isolated population (Wrangel island)
◆ They compared the 4300 yo Wrangel Island mammoth and a 45 000 yo specimen on
the Siberian mainland
◆ Island mammoths had a series of major detrimental mutations, such as olfactory
(can’t smell, can’t hunt properly) issues and reduced urinary proteins
● Can’t mark their territory, less food, less dominance in the environment
◆ Another mutation in a gene affecting hair structure, this gave the Wrangel island
mammoth a translucent, cream coloured coat, reducing insulation
◆ Inbreeding made the mammoths susceptible to disease because it limited genetic
diversity

Q. Justify the use of population genetics in conservation management with one named example

My answer: Population genetics can be used to prevent extinction of species in the future. Eg. The
woolly mammoth in the past interbred and this led to genetic defects and made them susceptible
 to disease. If we were able to find these genetic defects in current species, we could potentially
prevent them from interbreeding and passing down these defects. Thus, preventing these species
from going extinct in the same was as the Woolly mammoth

Sample answer: The information from the Mammoth study about the effects of isolation leading to
a reduction in genetic diversity and ultimately extinction, is an example of how population genetics
and conservation genetics can be useful tools in trying to conserve modern-day populations that
are dwindling in numbers

Large-scale data to study population genetics and disease

🐾 Through genetic testing, the diagnosis of more than 10 000 monogenic human diseases can
be determined
🐾 Common genetic differences, also called polymorphisms are single base pair differences
🐾 Genetic testing for SNPs unique to particular diseases are carried out quickly and easily
🐾 In NSW, free genetic tests are performed for SNP associated with phenylketonuria, Cystic
Fibrosis, galactosaemia, urea cycle disorders and many more (25 congenital conditions)
(present from birth) (need at least 2 diseases and the way they are detected)
🐾 These screenings allow for early detection and improved treatment options
Large-scale data to study population genetics and human evolution
🐾 There are 2 main contesting theories regarding human migration out of Africa
🚶 The Multiregional hypothesis (MRE): relies on fossil evidence suggests that all human
populations can be traced back to when Homo Erectus first left Africa (2 mil ya).
Suggests that there was gene flow between neighbouring populations, increased
variation. If we were isolated, it could lead to speciation.
🚶 The Replacement hypothesis (out of Africa or Eve hypothesis): suggests that archaic
Homo sapiens left Africa. It proposes that a second migration out of Africa happened
about 100 000 ya and that modern humans of African origin conquered archaic
groups, replacing them through interbreeding and out-competing.

Q. Justify the use of genetic testing for the use of a disease or disorder
Through large scale data studies, we are able to trace back human evolution to some degree of
accuracy. These studies have found two potential hypotheses, but we do not have enough evidence
due to factors such as incomplete fossil records and limited technology to know completely which
theory is true. The two theories are …. (notes above)
Read text 203-205 and complete the investigation 6.2

DNA Technologies 🧬
🧬 Investigate the use of technologies to determine inheritance patterns in a population using
DNA profiling and sequencing
DNA Sequencing
🧬 The exact nucleotide sequence (ATGC) of a gene on a chromosome is determined. Methods of
DNA sequencing include the Sanger method and the Maxam Gilbert method
🧬 Sequence = put something in an order, in this case the bases that make us
🧬 Why do we sequence DNA? To find relatedness, compare to other organisms
The Sanger Method
🧬 Aka Dideoxy (ddDNA) sequencing (lacks a hydroxide group so it acts as a good terminator)
🧬 Able to sequence approx. 1000 bases/sec
🧬 Steps
1. Isolate DNA from cell of organism
2. Sequencing reactions
1. Double stranded DNA is separated into single strands by heating (also PCR to
amplify) (4 reaction mixtures/test tubes)
2. Small piece of DNA (primer) binds to start of ssDNA
3. DNA polymerase uses the single DNA strand as a template to build the
complementary strand of DNA using free nucleotides
4. In the reaction mixture are chain terminating nucleotides called dideoxy
nucleotides. They attach to their complementary base on the template strand,
stopping more nucleotides from attaching (eg. ddATP, ddTTP, ddCTP, ddGTP
each in each of the 4 test tubes) (the fluorescence allows it to happen in one
test tube though, and sorted by colour)
5. Each terminator nucleotide is labelled with a different fluorescent dye (each
with a different colour so it can be identified by the beam) and will randomly
combine with the complementary base on the strands of the template DNA
6. Process continues until every position on the template strand has been
identified with a chain terminating nucleotide
7. The dye labelled DNA strands are placed into a tiny capillary tube containing
gel, and an electric current is used to pull the strands through the gel (short
strands travel further)
 8. When the strands emerge, they pass through a laser beam, causing the
terminating nucleotide to glow at a particular wavelength detected by a
photocell and fed to a computer
9. The computer analyses the colours and displays a chromatogram of the
sequences of bases in the original DNA sample
3. DNA fragments produced are sorted through capillary electrophoresis into different
sizes (bigger ones won’t move as far in the gel)
4. Results are analysed on a computer

Disadvantages of the Sanger sequencing (only need 2)

🧬 Cannot detect large deletions of sequences
🧬 High infrastructure costs and costs per test
🧬 Sequencing quality degrades after 700-900 bases
🧬 Can only sequence short DNA fragments of about 300 to 1000 base pairs
🧬 Can require a larger amount of DNA input
The Maxam Gilbert method
🧬 Not commonly used today for DNA sequencing due to its complexity and use of hazardous
chemicals
🧬 Steps
1. Preparation of Sample: DNA is denatured into a ssDNA chain, add primer and dna
polymerase
2. Radioactive phosphorus is added to the phosphate molecule on the 5’ end
3. DNA is cleaved at specific points, resulting in different fragment sizes depending on
the combination of chemicals
4. Reactions are loaded to a gel to separate fragment sizes
5. When all patterns from the gel electrophoresis are compared, the sequence of the
bases on the DNA strand can then be determined
🧬 The Maxam Gilbert method depends on the chemical liability of different nucleotide bonds.
The Sanger method interrupts elongation of DNA sequences by incorporating
dideoxynucleotides into the sequences. The chain termination method is the method more
usually used because of its speed and simplicity.
🧬 Cleavage happens at specific sites: G, G and A, C, C and T
🧬 Radiolabelling the DNA which is to be sequences
🧬 Radioactive phosphorus is removed using enzymes, sequence will be obtained from the 5’
end
🧬 Divided into 4 tubes, each have cleavage at different sites
DNA Profiling
🧬 Technique used to identify and compare individuals by characteristics in their DNA
🧬 Humans have sections in their DNA called STRs that are unique to each individual. Short
tandem repeats are sections of non-coding (?) DNA that are repeated many times over (eg.
TATATATA). The number of repeats at any given location in the non-coding regions of DNA
varies between individuals and gives rise to the different DNA profiles. The length of a large
number of STRs can be used as a basis for identification. STRs make you unique.
- Note: genome wide association studies
🧬 Steps
1. DNA is isolated from nucleated cells such as saliva, blood, cheek cells
2. PCR is used to amplify the amount of DNA being studied
3. Gel electrophoresis is used to separate the segments according to length (small
fragments migrate further than larger ones)
4. Unknown individual fragments is compared to known samples (eg. child to potential
father)
🧬 Ethical concerns
💉 Who owns the info obtained? The person, the company that performed the profile or
another party?
💉 Broken families, distress due to the finding the biological father thing
💉 Life insurance companies can access DNA profiling results to determine the risk of
insuring a person. If the person is at risk of a particular disease, is it right to charge a
person a higher premium?
💉 It is a legal obligation to disclose any genetic testing if asked by the insurer
💉 For this reason many individuals will not undergo genetic testing