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HSC Biology: Blueprint of life

Focus 1: Evidence of Evolution

suggests that the mechanisms of


inheritance, accompanied by selection, allow change over many generations
Darwin Wallace Theory of Evolution

Explain how Darwin/Wallaces theory of evolution by natural


selection and isolation accounts for divergent evolution and
convergent evolution

Case study: Peppered Moth

Analyse information from secondary sources to prepare a case


study to show how an environmental change can lead to changes
in a species
Natural selection is the mechanism to explain how species change by evolution:
1. Variation exists in all populations e.g. light and dark coloured moths by
mutation
2. Some of individuals with favourable variations survive ("survival of the
fittest") - dark moths camouflaged on polluted trees (due to industrial
revolution) and light coloured seen by predators (e.g. birds) so more dark
survive.
Trees that had been light and covered by lichens were now dark and bare
due to the dark smoke that covered the surrounding countryside as a

result of the industrial revolution and the genetically dark moths (caused
by mutation) could camouflage and better adapt.
3. Those that survive reproduce and pass on favourable characteristic e.g.
dark reproduce and pass on dark gene
4. Over time population changes to have more of favourable characteristic
e.g. more dark moths in population and less light coloured

Selecting agent = the state of the trees/colour of the environment

Summary of Darwin/Wallaces theory of evolution by natural selection


Within a population there exists genetic variation
Individuals possessing inheritable features best suited to the environment
will survive
They will reproduce to pass on their features to their offspring

Divergent Evolution

Different adaptations arise to suit different environments


New species will arise if genetic isolation occurs (populations prevented from
interbreeding)
The most common way in which members of the same species can be
isolated from each other is by geographic barriers such as mountain ranges or
stretches of water
Separation may have arisen due to members migrating to avoid competition
for resources

EXAMPLES:
Divergent Evolution: members of a species develop different adaptations in
different environments
14 different species of finches on the Galapagos Islands, each with different
beaks and diets
Initial population on mainland had variation
Became isolated on different islands
Those with favourable characteristics to suit the food sources on each
island survived to reproduce and pass on these characteristics to their
offspring - eventually different species developed on each island
Kangaroos in Australia all thought to have developed from a common ancestor
As individuals moved to different areas, certain features were better suited
than others to these new environments
Result: tree kangaroo evolved in rainforest areas, rat kangaroo evolved in
desert regions, pademelon in thick scrubland and red kangaroo on grassy
plains
1

Few individuals colonise new area from mainland e.g. volcanic island
isolated
Birds become reproductively isolated (geographic barriers)
Natural selection occurs - become genetically isolated after very long time
Over time different species develop suited to conditions where they are
living (cannot successfully interbreed)

1
1
1

New Guinea Birds of Paradise


1 common ancestor (crow-like)

Very different habitats within NG (isolated from each other) -> DIFFFERENT

SELECTION PRESSURES/AGENTS
Over time, diff. birds with diff. traits SURVIVING IN EACH AREA ->

reproduce -> DIFF. SPECIES!!


Convergent Evolution

Different (unrelated) species subjected to similar environmental niches


should possess similar adaptations e.g. shark, dolphin, turtle and penguin
each have streamlined bodies, fins or flippers

E.g. evolution of Australian marsupials in environments similar to those of


northern hemisphere placentals; the Tasmanian wolf's skull and body were
superficially similar to those of a dog, the marsupial mole resembles the
placental mole and kangaroos and wallabies occupy a similar niche to the
grazing ungulates of the northern hemisphere

Specific Example
Numbat and lesser anteater both live in similar environments (similar selection
pressures) so they both eat ants. Both have variation in population where they
are living. The ones that survived in these animals are ones with a long nose.
These features are more advantageous for survival of these animals and thus
when reproduced, the trait was passed on.
Prac modelling natural selection

Plan, choose equipment or resources and perform a first-hand


investigation to model natural selection
1

VARIATION in population represented by coloured toothpicks (worms) and


coloured cards (red, orange and yellow beetles)
1 More offspring are produced than can survive and predators take those less
able to SURVIVE (less camouflaged e.g. red cards, cream toothpicks)
1 Those that survive REPRODUCE in card model (dice determine the offspring
colour) and the FAVOURABLE characteristic is passed on
1 Over time the population changes e.g. Red and orange cards disappear and
population becomes one colour
Strengths
Limitations
Can be done in short period of
Predation only method of

time while in nature would take


members being removed from
years
population while some may
naturally die etc
Visual so colours representing

Only one type of variation shown

variations in population - easy to


see changes
(ie colour)
All processes in natural
All mating result in offspring

selection modelled

Reliability - consistent results with all groups in class (all ended up with change in
population so that all yellow) - repetition of same experiment by a number of
groups meant we could assess reliability

Good validity - experiment tested aim as natural selection was model and
removed bias by using dice for predation and mating

Stick-bird model

Hypothetical population of worms (toothpicks) that inhabit a predominately


green-coloured environment (green grass) there are two colour variations; cream
and green. The worms are food for a predator called stick-bird (students).
Method

Toothpicks (500 green and 500 natural) are mixed and scattered randomly
over a measured grass area. Stick birds (students) are later brought to that
area and remain outside a fence. They are told to prey on the worms in
the field (collect as many toothpicks as they can) in a given time. After 3
mins, the stick birds are driven from the field by the farmer (teacher) they
escape back to the classroom with their prey.

Tally and compare the numbers or green and cream toothpicks recovered.
Calculate the percentages recovered of each colour.
Impact of changes on evolution

Outline the impact on the evolution of plants and animals of:


changes in physical conditions in the environment
changes in chemical conditions in the environment
competition for resources
Physical
environment

temper
ature

rainfall
sea
levels

landfor
ms

climate

Chemical environment

pesticides
antibiotics
soil formation
composition of the
atmosphere
salinity
pH

Competition

Food
Nesting sites
water

change

meteori
te strikes

ocean
circulation
volcani
c activity

Evolution over short time periods produces changes in populations but does
not produce new species (micro-evolution).
Evolution over geological time produces changes in isolated populations that
can result in the appearance of new species and even higher groups, such a new
genera and families (macro-evolution).
How the environment has changed:
Sea levels have risen and fallen in line with ice-ages.

Climate has changed due to continental drift and global warming, as has
the patterns of ocean circulation as Pangea split and moved across the globe.

Volcanic activity has seen the obliteration of whole land areas and the
creation of new land masses e.g. Surtsey.

The impact of a huge meteorite strikes is thought to be the reason for the
extinction of the dinosaurs-dust cloud blocked the suns rays from the Earths

surface resulting in massive plant loss and subsequent animal loss as a result
of the food chain. This lead to the rise of mammals which reign today.
The composition of the atmosphere was different-it contained no oxygen
or carbon dioxide. Primitive organisms metabolised simple organic molecules
to carbon dioxide. Photosynthetic organisms then arose to use this and
produce free oxygen.
Humans recent use of pesticides like DDT has impacted heavily on pests
to select resistant strains to survive. The same has resulted from the use of
antibiotics with bacteria.
Soil formation has enabled a greater variety of plants and enabled larger
specimens to survive.

Factor

Impact on evolution of animals

Changes
Wompoo dove - temperature --> size
in physical variation (North New Guinea -> Northern
conditions NSW)
As temperatures decreased (north

to south), average body size


increased (lower SA:V to lose heat
slower)

Changes

in
chemical
conditions

Competiti
on for
resources

Impact on evolution
of plants
Australia became more
arid (increased
temperature, less
rainfall) - vegetation
changed from rainforest
to woodland to
grassland
<- extinction of
megafauna to give rise
to diversity of smaller
marsupials

Environmental change = introduction


of DDT (pesticide)/ insecticide is
selecting agent
Variation in population of insects
exists (ie some have resistance allele,
others dont)
Initially most die out (without
resistance)
Survivors reproduce and pass on
resistant allele (favourable
characteristic)
Repeated applications of DDT end up
with a population who mainly have
resistance allele ie population has
changed over time
Antibiotic resistance by bacteria
(Golden Staph)

Bilbies once covered


70% of Aus now only
on the edge of arid
regions due to

Australian
soils with high
salinity - range of salt
tolerant plants that
have evolved to
inhabit those areas
e.g. mangroves

Spotted jewelweed and the invasive


showy jewelweed plant have evolved to
grow and survive completely intermixed
Invasive jewelweed was a taller

competition for food


with rabbits

formidable competitor however some


native had deeper roots (variation) which
enabled enough water and nutrients.

Historical development of Evolutionary Theories

Analyse information from secondary sources on the historical


development of theories of evolution and use available evidence
to assess social and political influences on these developments
Name

Contribution to the development of evolutionary


theories

Aristotle (384
322 BCE)

George Louis

Leclerc, Comte de
Buffon (1749)
"Natural History"

Great Chain of Being - all species could be placed in


order, from the "lowest" to the "highest," with
God/Divinity on top
The universe and thus Great Chain of Being was perfect
The position of organisms was fixed unable to move up
the chain
Aristotle's world view (Doctrine of Fixed species)
entrenched in the minds of western philosophers for some
two thousand years
Speculated living creatures evolve according to
natural laws
Suggested humans and apes were related and
that all life descended from a single ancestor
(Ideas later recanted under pressure - against
ideas of the church)

Erasmus Darwin
(1794)- Charles
Darwin's
Grandfather
"Zoonomia"

First evolutionist - "all warm-blooded animals have arisen


from one-living filament"
Puts forward questions about idea of advanced

mammals arising from single-celled organism


Evolution (called transmutation) not widely accepted

BUT being discussed by intellectuals in society

Jean-Baptiste de
Lamarck (1809) "Philosophie
zoologique"French naturalist

Robert Chambers
(1844) - assumed
to be author of

Vestiges
published

anonymously
Alfred Russel
Wallace (1858)

Proposal: living things evolve to become more


complex through time
Claimed forces within creatures help them
adapt to their environments
Acquired traits are passed on to future
generations
e.g. giraffes need to stretch necks to reach
leaves which get longer and they pass this on
Vestiges of the Natural History of Creation bestseller in England
Publishes evolutionary ideas anonymously (as
Church and scientists both against it)
Scientists rally against his evolutionary ideas faulty reasoning

Similar core ideas to Darwins theory of natural selection at


same time

Charles Darwin

(1859) "Transmutation of
species" "Origin

of species"- most
influential

publication on
Evolution

Thomas Huxley
(1859)

Gregor Mendel
(1865)

Gould and
Eldredge (1972)

Darwin has work on it for 20yrs and has far more


evidence - similar core ideas
Competition caused Darwin to quickly publish
A lot of evidence gathered on Beagle voyage for
5 yrs to Galapagos islands British expansion and
colonising
Galapagos birds showed new species can evolve
over time from a common ancestor
Theory: proposed species in the wild evolve by
natural selection
Challenges biblical literalism but is not a denial
of God's existence
Evolution slow and gradual process species
evolve and accumulate small variations over long periods
of time until a new species was born
Changing time - more open to new ideas but
Church still influential
Defends Darwin in ape debate against Bishop
Wilberforce confrontation between social conservatives
and advocates of scientific progress
Applied evolution to the humans - "Evidence on
Man's Place in Nature"
Explicitly presented evidence for human
evolution - showed brains of apes and humans were
fundamentally similar in every anatomical detail
Wrote science articles socially acceptable
among scientists and public
Details how traits are passed on through
generation
Results of his published work unnoticed for
many years
Proposed punctuated equilibrium - species are
generally stable, changing little for millions of years until
"punctuated" by a rapid burst of change results in a
new species leaving few fossils behind
Explained absence of transitional fossils that
would have been evidence if gradual evolution had
occurred
Example: coral-like sea organisms (bryozoan) well-preserved fossil record shows unchanged for first
40my, an explosion of diversification, followed by another
period of stability for vast amounts of time

Assessment: social and political influences at the time delayed the


development of these theories as they were typically rejected
e.g. the strong influence of the Church and religion created public criticism and
stigma with new ideas that conflicted with previous beliefs of "Great Chain of

Being" - proposed a hierarchy that included God/Divinity as its pinnacle each


living organism is fixed in its position within the chain and that once created
remains unchanged Natural Theology and the Doctrine of Fixed species
Evidence for the theory of evolution

Describe, using specific examples, how the theory of evolution is


supported by the following areas of study:
palaeontology, including fossils that have been considered
as transitional forms
biogeography

comparative embryology

comparative anatomy

biochemistry

Evidence

Specific Example

Palaeontology the study of fossils

Sequence in which
fossils are laid down in rock
reflects the order they were
formed - oldest at bottom to
youngest at top
Fossil record shows

transitional forms - common


features of two known groups ->
represent successive change in
organisms
Limitations:
Fossil record is incomplete
Chances of fossilisation is rare
Only some body parts are
fossilised (hard body parts)
difficult to compare

Transitional form - reptiles to


birds: Archaeopteryx - bird features:
feathers, wishbone, keel bone - reptile
features: teeth in beak, bones in tail,
claws on three digits of wings
Horses:
Early horse small animal with four
toes and narrow cheek span
Modern horse large with only one
toe and large cheek span
Transitional forms fossilised
remains of horses with three toes
and intermediate cheek span

Biogeography the study of geographical distribution of organisms both living


and extinct

Isolation is necessary for

new species to arise


New species resemble those
that lived close by and those
that lived in a common area
before it split up supported
by continental drift
Organisms separated later
are more similar
Convergent and divergent
evolution

Numerous animals on Galapagos


Islands eg finches - organisms have closer
resemblance to others closeby (mainland)
Ratitaes (flightless birds) and
continental drift: distribution and similarities
suggest a common ancestor on Gondwana
and different populations evolved as
southern continents drifted apart e.g. emu in
Aus, ostrich in South Africa, kiwis in NZ, rheas
in South America

Comparative embryology comparison of the developmental stages of


different species

Species that are related show


similarities in their embryonic
development - suggests common
ancestry

Fish, amphibians, reptiles, birds and


mammals (vertebrates) show presence of
gill slits & tails with distinct muscle blocks
during early embryonic life

Comparative anatomy the study of similarities and differences in the


structure of living organisms
More closely

related
organisms are
more similar in
structure than
those separated
further back in

time.
Limitations:
Incomplete
fossil record
Many
structures

must be
compared

Homologous structures (evidence of divergent


evolution) - organs with same basic structure but
modifications due to different uses - e.g. pentadactyl (5
digit) limbs of all vertebrates such as bird wing, lizard
forearm, whale flipper have the same basic bone structure suggesting common evolutionary origin
Analogous structures (evidence of convergent
evolution) - body parts that appear similar but anatomy
show vastly different basic structure e.g. protective spines of
Australian echidna and European hedgehog to discourage
predation - originally very different and evolved similarities
independently to serve a common purpose/environment
Vestigial structures - evolutionary remnants of
body parts that no longer serve a useful function in the
population (evidence of common ancestry) e.g. coccyx and
appendix in humans and pelvic bones in snakes

Biochemistry- DNA hybridisation splitting a double-stranded DNA molecule


by heat and combining two strands from different species to form a hybrid DNA
DNA molecules of closely related
species have similar nucleotide base
order - closely related species' DNA
strands combine more strongly than
species distantly related. Higher
temperature required to separate
hybrid strands are more strongly
combined

DNA of a human and a mushroom would


be weakly combined and DNA would be
separated at lower temperatures that the
DNA of a human and a chimpanzee

Biochemistry Amino acid sequencing the study of chemicals found in cells


- analysis of the sequence of amino acids in proteins e.g. cytochrome or
haemoglobin

Similarities imply
organisms may have shared a
common ancestor
Differences imply
organisms evolved - number of
differences is proportional to
length of time they separated

Humans and chimpanzees have identical


sequence of amino acids in haemoglobin more closely related than humans and
gibbons, which have 3 differences

Prac Vertebrate forelimbs

Perform a first-hand investigation or gather information from


secondary sources (including photographs/ diagrams/models) to

observe, analyse and compare the structure of a range of


vertebrate forelimbs
Aim: to compare the structure of a range of vertebrate forelimbs.
Observations: all tetrapods have basic pentadactyl limb structure.

Pentadactyl limb of vertebrates:


These structures are homologous. Ie they share a common internal structure but
have evolved modifications to carry out different uses. They all have the
pentadactyl limb structure. This suggests that they shared a common ancestor
with this structure and that overtime have evolved differences due to different
selection pressures eg the limb of the whale/dolphin has evolved into a flipper
and the limb of a bird has evolved into a wing.

The structure of a human arm includes a bone between the shoulder and the
elbow called the humerus. Below the elbow are 2 other bones, the radius and the
ulna, followed by a set of wrist bones and then the 5-digit fingers and toes. This
is an example of a pentadactyl limb. The pentadactyl limb is common to humans,
other mammals (although whales and dolphins have lost their hind limbs), birds,
dinosaurs and other reptiles and amphibians. The pentadactyl limb is common to
most tetrapods (4-limbed creatures). It is evidence of humans' common ancestry
with amphibians, reptiles and other mammals.

However, the basic pattern has been modified in different groups. For example,
frogs have 4 fingers and birds have only 3 fingers in their wing skeleton.

Changing ideas about evolutionary relationships

Use available evidence to analyse, using a named example, how


advances in technology have changed scientific thinking about
evolutionary relationships

Old system based on structural anatomy of the hind-limb, knucklewalking


and enamel on teeth showed gorillas and chimpanzees more closely related
than humans or orangutans

1960s-1970s advanced technology of amino acid sequencing of proteins


cytochrome c and haemoglobin revealed identical sequences in chimpanzees
and humans/ one amino acid difference between these species and gorillas
Newer technologies DNA sequencing and DNA hybridization compared
thousands of base pairs by sequencing entire genes for comparison and
mitochondrial DNA confirmed result of above:

African apes (gorillas and chimpanzees) are more closely related to humans
than to orangutans, which diverged much earlier.

Humans and chimpanzees have the smallest difference between the base
sequences in their DNA, whereas the DNA of humans and gorillas show
slightly more variation, but the greatest difference occurs when comparing
these two species with orangutans.

Technology

Then

Now

Comparison of
organisms to
determine their
relatedness

Comparative anatomy,
embryology, palaeontology to
compare structural similarities
and differences

Biochemical techniques:
DNA hybridisation and
amino acid sequencing
comparison on a molecular
basis to determine
evolutionary relatedness of
distantly related organisms

Limitations:

Did not allow comparisons


of distantly related species
All body parts had to be
available

Advantages:

Does not rely on


homologous structures

Homologous structures
necessary

Results relied on
observation, ie subjective
and qualitative

Palaeontology - there is an
incomplete fossil record
only organisms with body
parts that were hard/easily
fossilised/ represented by
transitional forms could be
studied

Shows degree of
relatedness, allowing
distantly related species
to be compared

Only requires one cell


with intact DNA

Results are objective


and quantitative

Scientific
understanding

Then

Now

Relationship
between humans
and other
primates

Based on structural
observation, humans were
thought to be most closely
related to gorillas amongst the
primates

Amino acid sequencing of


haemoglobin shows that
humans and chimpanzees
have fewer differences in
amino acids than humans
and gorillas, showing that
humans are more closely
related to chimps in terms
of evolution (they shared a
more recent common
ancestor)

Focus 2: Gregor Mendels

experiments helped advance our


knowledge of the inheritance of characteristics.
Gene vs allele

Distinguish between the terms allele and gene, using examples

Gene a section of DNA which codes for a protein that expresses itself as the
phenotype (characteristic) for that trait
Allele the alternative forms of a gene expressed in the genotype. In most
individuals there are two alleles of any one gene (one from each parent), which
occupy the same relative position on homologous chromosomes. One allele is
often dominant to the other (recessive) allele
Examples

There is a gene expressed in pea plants for height with alleles for tall or
short

Gene in humans for eye colour with alleles brown, blue, green etc.

Mendels experiments

Outline the experiments carried out by Gregor Mendel

individu
ally

Chose easily distinguishable characteristics with two


Austrian monk (Father of genetics) who carried out thousands of experiments
alleles only

to observe inheritance of characteristics in pea plants recognized a pattern


Crossed pure breeding plants through selective (controlled) breeding

He showed inherited characteristics are passed as discrete units from


parents to their offspring
He was able to predict the ratios of various types of offspring from any two
specific parents
Pea plants were ideally suited because:
o They can be easily grown and cross-bred
o Have a short life cycle (annual plants)
o Both male and female parts were present in their flowers

Mendels Laws
Law of segregation: Parents have two genes (alleles) for each characteristic
but only one from each is passed on to offspring (equal chance). They segregate
(separate) randomly at gamete formation and combine at fertilization. The
characteristics do not blend; one dominates over the other.
Law of independent assortment: They segregate independently alleles for
traits go into sex cells independently from other traits e.g. flower colour separate
from height.
NB This law does not hold true for genes on the same chromosome.
Mendels experimental techniques

Describe the aspects of the experimental techniques used by


Mendel that led to his success
Mendel's experiments were well controlled, allowing a valid conclusion to be
drawn
He tested only one variable at a time
First hand data that he gathered was quantitative (leading to successful
analysis of results)
His techniques were:
Valid and reliable
Changed only one variable at a time
Controlled all other variables
Used large sample sizes
Repeated his experiments for different traits (7)
Analysed his results mathematically to identify patterns and trends
Applied formulae to draw valid conclusions
Accurate eliminated experimental error
All experiments were conducted in a controlled environment (greenhouse)
Established pure breeding lines isolated plants (so no accidental crosspollination) and ensured self-pollination only (used flowers with both male
and female parts)
Ensured cross-breeding removed the stamens (anther) of plants to
prevent accidental self-pollination and then manually transferred pollen
from the anthers of one plant to the stigma of another
Mendels work ignored

Outline the reasons why the importance of Mendels work was not
recognised until some time after it was published
Mendel published the results of his experiments in 1866, but the scientific
community failed to recognise the significance of his findings until 1900 when
others performed similar experiments.

Mendel was not a recognized, high profile member of the scientific


community

he presented his paper to only a few people at an insignificant, local,


scientific meeting

other scientists did not understand the work or its significance

Monohybrid crosses Punnet squares

Solve problems involving monohybrid crosses using Punnett


squares or other appropriate techniques
Describe outcomes of monohybrid crosses involving simple
dominance using Mendels explanations
Monohybrid = one characteristic
e.g.

Pedigrees

Perform an investigation to construct pedigrees or family trees,


trace the inheritance of selected characteristics and discuss their
current use
Pedigrees show the inheritance of a trait through a family esp. over a number of
generations.

Horizontal line = marriage


lines
Vertical lines = children
Generations roman
numerals

Example: tongue rolling


R = tongue-rolling, r = cannot roll

Parents 1 and 2 are heterozygous


tongue rollers Rr they
produced son 4 who is a nonroller (has to be rr) so both
must be carrying the recessive
gene therefore tongue rolling is

Son 6 is Rr NOT RR he is married to a non-roller (rr) and both children


are non-rollers son 6 passed on a recessive gene to his children and he
must be heterozygous (Rr) to do this

To determine whether the trait is dominant or recessive:

Circle two parents who are the same a child who is different

The

phenotype must be recessive

childs

Pedigrees are a graphical representation of inheritance patterns of a particular


trait (phenotype) in related individuals over a number of generations.

Current use
Inheritance of genetic traits within families or studying heredity patterns in
humans or other animals
Humans identify and trace genetic disorders/diseases e.g. haemophilia, colour
blindness and can:

Determine if particular family traits are genetically inherited

Trace the occurrence over several generations

Deduce genotypes to determine the probability that prospective parents


are heterozygous carriers of a defective allele

Predict the likelihood of a family member inheriting a trait or developing a


disorder

Animals

Identifying suitable individuals with desirable traits for breeding purposes

Predict the distance in relatedness to prevent interbreeding (healthier)

Verify the thoroughbred status of animals by breeding societies

Advantages
Easy scientific analysis of the inheritance of genetic traits that would be
otherwise ethically unacceptable to carry out (controlled breeding or test
crosses)
Genetic counsellors can advise parents on minimising or avoiding risks of
producing a child with the defect
Researchers can develop a program to eliminate the inherited defect in a
population

Researches use pedigrees to identify and select individuals affected or at


risk to study what gene causes the disorder e.g. recent breast cancers
studies found affected individuals all had two specific low-risk genes that
increase the probability of breast cancer when combined

Disadvantages
Useful only when studying animals that do not produce too many offspring
e.g. mammals
Humans usefulness relies on accurate and reliable recordkeeping within
families
Conclusions may be ambiguous if a family is small or has too few affected
members
Same genetic defect may be due to changes in different genes so
unrelated carriers of a similar defect may be inaccurately assessed as
being at high risk of having a defective child

Dominant/recessive alleles and phenotypes

Explain the relationship between dominant and recessive alleles


and phenotype using examples
Dominant allele the form of a gene which is expressed in the heterozygous
(hybrid) condition, masking the other (recessive) form of the same gene e.g. T =
tall
Recessive allele the form of a gene which is only expressed in the homozygous
condition and is masked in the heterozygous condition by another (dominant)
form of the same gene e.g. t = short
Genotype all the genes (alleles) present in the cells of an organism e.g. TT, tt,
Tt
Phenotype the detectable physical, chemical or behavioral characteristic or
traits of an organism ie the outcome of the genotype e.g. blue eyes, tall or short
plant
Homozygous/heterozygous genotypes

Distinguish between homozygous and heterozygous genotypes in


monohybrid crosses

Homozygous having the same identical alleles of a particular gene in a diploid


cell, for any particular hereditary characteristic e.g. TT = homozygous tall, tt =
homozygous short
Heterozygous having two different alleles of a particular gene in a diploid cell
for any particular hereditary characteristic e.g. Tt = heterozygous tall
Hybridisation (cross breeding)

Process information from secondary sources to describe an


example of hybridisation within a species and explain the purpose
of this hybridisation
Hybridisation a process in which two genetically different strains of an organism
are crossed to produce offspring with more desirable characteristics than
parents.
Hybrid vigour - hybrid plants that are heterozygous for particular alleles tend to
be stronger, more disease resistant, more vigorous, healthier and higher yielding
compared to their true-breeding parents and inbred strains of the same species
e.g. hybrid corn is used to generate higher yields.

Disadvantage: hybrid vigour only guaranteed for F1 gen. seeds - must be


constantly made available.
Plant breeders must ensure that original wild type plants are preserved to
genetic variability remains within a species when they are producing hybrids.
Modern tomatoes more disease resistant, nutritive value & ability to tolerate
harsh soil improved
Example: breeding of Australian sheep to produce lambs that are grown for their
meat quality
Border Leicester x (crossed with) Merino ewes first cross mothers (wellproportioned carcass, high fertility, good forageing ability, good milk production)
First cross mothers x Poll Dorset prime lambs which grow rapidly to market
weights and have the ideal market shape

Focus 3: Chromosomal structure provides the key to


inheritance
Sutton and Boveri

Outline the roles of Sutton and Boveri in identifying the


importance of chromosomes
Evidence (deductions)

Boveri

(researc
h: 1896
1904)

Hypotheses from this


evidence

Experimented with sea urchin eggs


Studied the behaviour of

chromosomes during meiosis &


after fertilisation in nucleus
Showed chromosomes were

transferred during the process of


meiosis
Showed uniting female and male
gametes lead to offspring with
characteristics of both parents
(enucleated egg + sperm showed
male characteristics only)
Unusual chromosome combinations
lead to abnormalities in offspring
eg. 2 sperm, 1 egg needed
correct number of matching
chromosomes
Noticed the no. of inherited
characteristics outnumbered the no.
of chromosomes

Chromosomes are the


means of inheritance
Each chromosome must
carry many hereditary
factors (genes)
Chromosomes could
exchange factors with
each other during cell
division (crossing over)

Boveris contribution: In 1904 Boveri published a paper in which he stated


that Mendel's heredity factors were located on chromosomes.
Sutton

(researc
h: 1902
1904)

Studied meiosis in grasshopper


testes
Studied the behaviour of
chromosomes
Noted the similarity between the
separation and sorting of
chromosomes in meiosis and
Mendels laws about the
segregation and assortment of
genes

Hereditary units were


carried on chromosomes
Reduction division and
random assortment of
chromosomes pairs were
responsible for the
separation and sorting of
factors

Suttons contribution: In 1904 he published a paper, The chromosomes in


heredity, in which he pointed out that the behaviour of chromosomes parallels
Mendel's rules.
Together, Sutton and Boveri showed the relationship between cytology and
Mendelian heredity, leading to the chromosome theory of inheritance which

stated that:
a) Chromosomes occur in pairs in the body cells of organisms
b) Each member of a chromosome pair separates into separate gametes
during meiosis
c) New pairs of chromosomes form when gametes unite in fertilisation
d) Hundreds of genes are located on each chromosome

Chromosomes and genes

Describe the chemical nature of chromosomes and genes


Chromosomes strands of DNA molecule coiled around a protein core (histone)
which carries genes in body cells and gametes of organisms
Gene sections of chromosomes
DNA

Identify that DNA is a double-stranded molecule twisted into a


helix with each strand comprised of a sugar-phosphate backbone
and attached bases adenine (A), thymine (T), cytosine (C) and
guanine (G) connected to a complementary strand by pairing
the bases, A-T and G-C

Meiosis

Explain the relationship between the structure and behaviour of


chromosomes during meiosis and the inheritance of genes

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, allowing the individual alleles of maternally and paternally
derived chromosomes to assort independently

Variability

Explain the role of gamete formation and sexual reproduction in


variability of offspring
Variation caused by independent assortment, segregation, crossing over and
random fertilisation allows for different combinations of chromosomes/genes
vital for survival of a species in a changing environment

PRAC: Meiosis model

Process information from secondary


sources to construct a model that
demonstrates meiosis and the processes of crossing over,
segregation of chromosomes and the production of haploid
gametes

Sex-linkage and co-dominance

Describe the inheritance of sex-linked genes, and alleles that


exhibit co-dominance and explain why these do not produce
simple Mendelian ratios
Mendelian inheritance

Individuals have two


factors for each

Type(s) of inheritance (sex-linked and/or codominance) which vary from the Mendelian
pattern; explanation
In sex-linkage, the heterogametic sex may have
only one factor e.g. in humans, males have one X
and one Y chromosome - the male genotype is XY,

characteristic; they may


be the same (ie in purebreeding individuals) or
different (ie in hybrid
individuals)
Factors (genes) are
inherited as discrete units
and are not dependent on
whether they come from
the male or female parent

The trait is expressed in


hybrids is dominant,
whereas the one that is
hidden or masked is
recessive (Mendels first
law: dominance)
When two hybrids breed,
they will produce a ratio of
3:1 offspring ie. three
offspring showing the
same trait as the parents
(the dominant trait) to one
offspring showing the
contrasting recessive trait

so X-linked genes are absent from their Y


chromosome and therefore only one copy is present

Sex-linkage: genes coding for non-sexual


characteristics that occur on the sex chromosomes
will show inheritance patterns similar to the sex
chromosomes on which they occur e.g. sex-linked
recessive traits such as colour-blindness, present on
the X chromosomes but not on the Y, will appear
more frequently in the phenotype of males because
there is no paired allele to mask its effect
Co-dominance: both alleles in the hybrid are
expressed one allele is not dominant to another
(e.g. Roan cattle, hybrids resulting from crossbreeding a red parent with a white, have both read
and white hairs)
The ratios change for both sex-linked and codominant genes:
Sex-linkage: any recessive genes on the X

chromosome in males will be expressed in the


phenotype, b/c they are unpaired (no
equivalent, dominant gene present)
Co-dominance: a hybrid does not resemble

either parent but has a different phenotype of


its own the genes of both parents are
expressed in the individual therefore the
ratio of a monohybrid cross will be 1:2:1

Morgan and fruit flies sex linkage

Describe the work of Morgan that led to the understanding of sex


linkage
Morgan experimented using the fruit fly Drosphilia Melangaster which has 4 pairs
of chromosomes. One pair are sex chromosomes, the others are autosomes
(body chromosomes).
Morgans crosses were designed to determine if white eyes are inherited in a
Mendelian fashion and so he used a sequence of crosses typical to Mendels:
Cross 1: Pure-breeding parents
Parents phenotype:

white-eyed male x homozygous red-eyed female

Cross 2: Monohybrid cross (between F1)


F1 phenotypes:

red-eyed male x heterozygous red-eyed female

Cross 3: Test cross

Morgan concluded red eyes were dominant to white because when red (male) x
white (female) F1 all red eyes, no white eyed females in F2 generation

Crosses involved in sex-linked characteristics will not produce Mendels ratios


as these they rely on the law of segregation and independent assortment,
whereas genes linked to sex chromosomes do not segregate in that manner
Morgans results showed a difference depending on whether the gene was
inherited from a male or female parent.

He hypothesised: The gene for eye colour in Drosophila is carried on the X


chromosome and is absent from the Y chromosome.
Further tests supported his hypothesis and geneticists became aware that
genes could be sex-linked sex chromosomes carry genes for non-sexual
body characteristics.
Morgan explained the chromosome theory of inheritance by suggesting genes
were arrange in a linear order on a chromosome and they could only be
inherited separately if similar parts of homologous chromosome were
exchanged during crossover in meiosis.
Examples of X-linked traits in humans: colour blindness, haemophilia

Co-dominance genotypes and phenotypes

Explain the relationship between homozygous and heterozygous


genotypes and the resulting phenotypes in examples of codominance
(see below)
Summary
Monohybrid crosses
Only one type of characteristic is involved in
problem e.g. coat colour there are usually two
this e.g. black/white coat
The genotype is written using capital and
lower case versions of the same letter and no
Y chromosomes are shown (capital =
dominant, lower case = recessive)
The genotype always contains two of the same
letter
o AA or aa = homozygous
o Aa = heterozygous

the
variations of
X or

Sex-linkage

Genes carried on the sex chromosomes (XX or XY)


The sex (male or female) of the parents and offspring are always
mentioned
One sex, usually the male, has only one copy of the gene e.g. if it is on the
X chromosome since the male has one X and one Y chromosome (carries
very little genetic information) the female has two X chromosomes and
thus two copies of the gene
The X and Y chromosomes are written into the genotypes:
o XHXH = normal female
o XHY = normal male
o XHXh = normal female
o XhY = affected male
o XhXh = affected female
The recessive characteristic appears more frequently in males than in the
females (if it is X-linked)because there is no dominant gene on the Y
chromosome to counter its effect

Co-dominance

Both alleles are expressed in the heterozygous phenotype one


gene/characteristic is not dominant over the other

3 possible phenotypes
No X or Y chromosomes are shown
The genotype contains two letters both capitals and may be two of the
same letter or two different letters
E.g. coat colour in cattle:
o RR = red coat (homozygous)
o WW = white coat (homozygous)
o RW = roan coat white hairs amongst red hairs (heterozygous, codominant)

Problems

Solve problems involving co-dominance and sex linkage


Environment and phenotype

Outline ways in which the environment may affect the expression


of a gene in an individual
Phenotype = genotype + environment
e.g. genetically identical plants grown under different conditions (nutrients,
moisture, sunlight, temp) will result in differences in growth rates, habit,
flowering and fruiting
e.g. Himalayan rabbit -> every cell has SAME GENOTYPE for production of
melanin
Genotype for black hair
Colder extremities always dark (absorb more sun)
Warmer areas around core of body -> white/ cooler areas: tips of ears,
feet, tail are darker
Change in environment = temperature
e.g. Hydrangeas
Blue - highly acidic (<pH5)
Pink - pH 6
Change in environment = soil pH
e.g. water buttercup plant
Genetically identical leaves grown half submerged in water
Leaves under water are thin and finely divided
Leaves growing above water are broad and lobed to float
PRAC environment and phenotype

Identify data sources and perform a first-hand investigation to


demonstrate the effect of environment on phenotype
Method:
1 Make one litre of fertiliser solution using manufacturers instructions
(=100% conc.)

Set up five cups/test tubes as described below:

2
3
4

Observe and record growth rate of each cutting over 3 weeks.


Ensure that the fertiliser solution is continuously topped up at the correct
concentrations.
Repeat whole experiment (two other groups in room use different
impatiens plants).

Results
Test tube/cup
1.
N
o fertiliser
1.
1
00%
fertiliser
1.
5
0%
fertiliser
1.
7
5%
fertiliser
1.
2
5%
fertiliser

Observations
Slowest growth rate, least length, least leaves, virtually no root
growth
Fastest growth of root and root hairs, longest length in roots and
shoot, most leaves, healthy colour etc
3rd best growth rate

2nd best growth rate, almost same length in root and shoot as
100% but less root hairs, same no. of leaves and healthy colour
Dome root growth but very little and less buds

Conclusion: The addition of fertilise (changing environment) affects the growth


rate and appearance (phenotype) of impatiens cuttings (same genotype). The
shoots/roots grow best (more leaves, fastest growth rate, healthiest colour), in
accordance to the manufacturer's recommended dosage.
* Cannot change the genotype. The environment effects the phenotype.
Controlled variables = amount of solution in cup, impatiens cutting from same
plant-same size, no of leaves etc, same exposure to sunlight, temperature etc
Independent variable = concentration of fertiliser
Dependent variable = growth rate of impatiens

Focus 5: Current reproductive technologies and genetic


engineering have the potential to alter the path of evolution
Reproductive technologies

Identify how the following current reproductive techniques may


alter the genetic composition of a population:
o artificial insemination
o artificial pollination

o cloning
Reproduc
tive
technolo
gy

Definition
(include an
example)

Artificial
insemina
tion

Involves

inserting
semen from
selected male
livestock into a
female animal
e.g. cattle,

sheep, pigs,
performance/sp
orts horses

worldwide

e.g. humans:
man is sterile
and couple
wants children
sperm banks

Artificial
pollinatio
n

Process

involving the
removal of the
stamens of a

flower and
dusting the

pollen from
desirable plants
over fertile
sigmas of the
same flower

(selfpollination) or
another flower
(crosspollination)
e.g. Mendels
pea plants,
modern

Advantage of technology

Genetic impact
of the population
and possible
effects on the
evolution of
species
Sperm is frozen for long term
Disadvantage:
storage and transported
breeding
overcomes the problem of
undesirable side
transporting large animals over
effects e.g. hybrid
long distances cost and time
cows with
effective & more offspring
extremely large
High chance of successful
udders
Reduces
genetic

fertilisation
Reduces injury to animals in
variability (many
transit of during mating
offspring arise
Semen can be frozen indefinitely
from one father)
Reduced disease transmission
Low genetic
Introduces desirable traits/
variation pop.
characteristics of one male into
cannot evolve in
many females more efficient
response to
e.g. high quality beef cattle
changing
Used in conservation increase
environmental
the numbers of endangered
variables
species eg grey nurse sharks
increased risk of
extinction
Controls the genetic composition
Long term
of offspring plants to give the
continued
most desirable characteristics
breeding of the
Commercially great consistency
same hybrid
in growth rates, food quality
lines decreases
Rapid, widespread change in
genetic
population
diversity less
Self-pollination grow in greater
likely to survive
numbers since not dependent on
a sudden
transferring pollen from one
environmental
plant to another
changes or
Cross-pollination new hybrid
pathogens
species e.g. nectarine is a hybrid
formed by crossing a peach with
a plum short term increase in
genetic diversity, may result in
hybrid vigour (healthier) and
equips for adaptation & survival
if there is a sudden

agriculture
environmental change
(cereals, fruits,
vegetables)
Cloning
A process that Reduces the unknown element in Produces
produces
selective breeding
genetically
genetically
characteristics being bred can be
identical
identical
precisely controlled e.g. growing
organisms
offspring to the
seedless grapes
reduces
parent
Can be reproduced in a short
variability of
Simplest form:
space of time more efficient
population
asexual
Identical members
method of obtaining desirable
reproduction
characteristics in organisms
of a species in a
e.g. plant
Used in conservation to try to
population are
grown from a
increase no. of endangered
less likely to
cutting or
species or introducing genes
survive sudden
grafting
from extinct animals e.g.
environmental
E.g. Dolly the
thylacine
changes and
sheep
would be
E.g. tissue
vulnerable to
culture*
foreign pathogens
* Tissue culture taking thousands of small pieces of tissue from a parent plant
and culturing them in a nutrient liquid in a test tube in the laboratory which
eventually grows large enough to be planted out into the soil to grow and be
adult plants
Cloning

Process information from secondary sources to describe a


methodology used in cloning

1. Extract and isolate the donor somatic cells from one organism with the
donor egg cells from another organisms onto separate petri dishes
2. Under a microscope, remove the nucleus from the egg cell (enucleation)
with a micropipette and discard.
3. Insert the somatic cell into the enuncleated egg cell using a micropipette
(microinjection).

4. Electric shock opens cell membrane and triggers cell division (mitosis).
5. Once the embryo begins to develop into a ball of 16 cells in the petri
dish, implant the embryo into th ewomb of another orgnism (surrogate
mother).
6. Pregnancy continues as embryo increases in cell number and begins to
differentiate its cells into various tissue types until the baby can be
delivered.

Simplest way a plant can be cloned


Using cuttings a branch from the parent plant is cut off, its lower leaves are
removed and the stem is planted in damp compost. Plant hormones are often
used to encourage new roots to develop. The cutting is usually covered in a clear
plastic bag to keep it moist and warm. After a few weeks, new roots develop and
a new plants produced.
Transgenic organisms

Outline the processes used to produce transgenic species and


include examples of this process and reasons for its use
Transgenic organism one that has been created by moving a gene across
species taking a gene from one species and inserting it into the DNA of another
species.
The gene inserted into an organism from a different species becomes part of that
organisms DNA and can be inherited by subsequent generations.
Applications:

Genetically modified foods with increased nutrients, higher yield,


processed more easily
Introducing resistance to disease, pests and pesticides in species
Treating disease by gene therapy
Manufacture pharmaceutical products e.g. human growth hormone,
haemoglobin, insulin

Cut, copy and paste the mechanisms for transgenic production


1. Cut: a gene for a favourable characteristic is removed from the cell of an
organism, using restriction enzymes and cut plasmid with the same restriction
enzyme. This results in complementary sticky ends. Mix the gene and

plasmid together and seal the ends using


DNA ligase. Place the plasmid back into the
bacteria.
2. Copy: multiple copies are made this step is
usually carried out in bacteria. When the
bacteria divides, it makes a copy of the
plasmid. Due to fast rates of division, large amounts
of the plasmid can be generated.
3. Paste: the genes are inserted (injected) into
the cell of another species and the resulting cells
screened to test if gene has been inserted successfully.
There are four main ways of inserting (paste)
desired gene into the genome of a species to be
genetically transformed:
i.

the

Microinjection of DNA directly into the nucleus


of a single cell usually performed under an
optical microscope with a micropipette to
introduce DNA into egg cells
Biolistics (gene gun) method of mechanically delivering DNA on microscopic
particles into target tissues and cells by firing them from a gen gun; eg tiny
gold particles are used to coat the DNA which is then fired at the target cells
under pressure or voltage by a gene gun
Electroporation increase the membrane permeability by applying an
electrical current
Transduction by a viral vector DNA may be carried by viral vectors e.g.
adenovirus, liposomes or bacterial plasmids into cells these may be injected
directly into the bloodstream or may be delivered by aerosol delivery (e.g.
nasal spray used in trials of gene therapy for cystic fibrosis)

ii.

iii.
iv.

Plasmid a circular piece of DNA found in bacteria often used to transfer genes
to other organisms
Recombinant DNA DNA formed from sections of DNA from two organisms
Use of transgenic species ethical issues

Analyse information from secondary sources to identify examples


of the use of transgenic species and use available evidence to
debate the ethical issues arising from the development and use
of transgenic species
Example: BT Cotton

Engineered in the 1990s by CSIRO scientists in collaboration with US company


Monsanto
Traditional pesticides used on cotton plants are made stronger and applied
more frequently to eradicate insect pests e.g. caterpillar (destroys millions of
dollars of cotton each year)
Increased spraying caterpillars building up immunity to pesticides due to
natural selection

Bt gene codes for the production of the toxic protein in an inactive form that
is harmless to humans and most animals BUT when eaten by a caterpillar, it
is converted by the digestive system into an active form that kills the insect
Process to produce transgenic cotton: vector transfer
1. Small cuttings of normal cotton seedlings are placed on a solid growth
medium where they grow into calluses
2. Callus cells are transferred into a liquid medium after about 6 weeks
where they are given hormones to induce them to grow into cotton
plant embryos
3. Bt gene extracted from a bacterium Bacillus thuringiensis using
restriction enzymes by genetic engineering
4. Bt gene is transferred to cotton plant embryos using vector/carrier
(second bacterium)
5. Cotton plant embryos dipped in solution containing a mixture of the
vector and the extracted Bt genes and the vector injects the Bt genes
in to the cotton cells
6. Embryos containing Bt genes are grown in tissue culture after gene is
inserted and germinated into small plants planted in pots and grown in
glasshouses

ADVANTAGES
o
o

DISADVANTAGES

Increases yield
Reduction in pesticide use
reduces cultivation cost,
environmental pollution and the
development of resistance in
caterpillars
Now able to spray occasionally with
a narrow spectrum pesticide to
eliminate sucking insects and mites
(does not wipe out beneficial insects
like before)

o
o
o

o
o

High cost of Bt cotton seeds


compared to normal
Toxin producing efficiency lasts up
to 120 days only
Adverse effect on insecticide
manufacturing companies and
employment of persons
Ineffective against sucking insects
(whitefly)
Promotes malpractice of mixing
seeds

Golden rice

Genes from daffodil and soil bacteria inserted into rice genome to produces
Vitamin A in endosperm rather than its leaves (normal)
Hoped to be used in developing countries to supplement Vitamin A deficient
diets when approved for human consumption to prevent blindness

Enviropig

Yorkshire pig with a gene from bacteria E-coli that produces enzyme in saliva
to break down phosphorus contained in plant material in feed much less
phosphorus excreted in manure
Reduces environmental impact since buildup of phosphorus in soil from pig
manure can leach into ponds, streams, rivers during heavy rain causes
algal growth that eventually kills fish and other aquatic animals & produce
toxics making water unsafe to drink (eutrophication)
Reduces pig production costs (eliminates the need to add phytase to feed)

Ethical

For

Against

issues
Environm Many new discoveries are
Unethical and wrong to change
ent and
considered to be a threat at
nature and the natural process of
nature
first e.g. nuclear power but
evolution
Biodiversity upset as lowers
can be used to benefit
variation may lead to mass
society and the environ.
extinctions
rd
Financial We could create crops more 3 world countries may be unable
and social
drought tolerant/resistant to
to afford or have access to GM
justice
pests & have higher yield
products fall further behind &
issues
(cost-effective)
widen poverty gap
Financial gain essential
Patenting and ownership only
money can be put back into
some companies have access to
further research
technologies could create a
monopoly
Medical
Foods with higher nutritional Potential long-term health risks
and
value may be developed to
unknown
rd
health

People
with allergies may have an
supply better nutrition to 3
issues
allergic reaction to foods that
world countries
Reduced pesticide use =
contain DNA from other
healthier
organisms e.g. 1996 soybean
had Brazil nut gene (ineffective
labelling)
Animal
GM crops may be used to
Vegetarians may unknowingly eat
and
solve food shortages in 3rd
food with animal DNA
human
world countries, producing a Transgenic animals could be
rights
created as genetically modified
higher yield at lower costs
issues
works of art

Impact of reproduction technologies on genetic diversity

Discuss the potential impact of use of reproduction technologies


on the genetic diversity of species using a named plant and
animal example that have been genetically altered

Reproductive technologies reduce genetic diversity favourable genes chosen


over unfavourable

Genetic diversity is important in a population as it reduces the species risk of


extinction
Monocultures threaten biodiversity - susceptible to disease, predator or
natural disasters
Genetic diversity decreased in cotton and wheat crops, cattle and sheep
Seed banks preserve seeds to ensure genetic info is not lost Convention on
Biodiversity - 1992
First seed bank developed by Vavilov who collected seeds from many
varieties of wheat
Cloning animals will further reduce genetic diversity b/c animals will be
genetically identical
Cloning may help to revive the gene pool: re-creating extinct animals e.g the
Tasmanian tiger
Production of transgenic species using recombinant DNA tech. may increase
genetic diversity