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
1 Birds become reproductively isolated (geographic barriers)
1 Natural selection occurs - become genetically isolated after very long time
1 Over time different species develop suited to conditions where they are
living (cannot successfully interbreed)

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
Visual so colours representing naturally die etc
variations in population - easy to Only one type of variation shown
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 Chemical environment Competition

environment
temper pesticides Food
ature antibiotics Nesting sites
rainfall soil formation water
sea composition of the
levels atmosphere
landfor salinity
ms pH
climate
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 Impact on evolution

of plants
Changes Wompoo dove - temperature --> size Australia became more
in physical variation (North New Guinea -> Northern arid (increased
conditions NSW) temperature, less
As temperatures decreased (north rainfall) - vegetation
to south), average body size changed from rainforest
increased (lower SA:V to lose heat to woodland to
slower) grassland
<- extinction of
megafauna to give rise
to diversity of smaller
marsupials

Changes Environmental change = introduction Australian

in of DDT (pesticide)/ insecticide is soils with high
chemical selecting agent salinity - range of salt
conditions Variation in population of insects tolerant plants that
exists (ie some have resistance allele, have evolved to
others dont) inhabit those areas
Initially most die out (without e.g. mangroves
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)
Competiti Bilbies once covered Spotted jewelweed and the invasive
on for 70% of Aus now only showy jewelweed plant have evolved to
resources on the edge of arid grow and survive completely intermixed
regions due to Invasive jewelweed was a taller
competition for food formidable competitor however some
with rabbits 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 Great Chain of Being - all species could be placed in
322 BCE) 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
George Louis Speculated living creatures evolve according to
Leclerc, Comte de natural laws
Buffon (1749) - Suggested humans and apes were related and
"Natural History"
that all life descended from a single ancestor
(Ideas later recanted under pressure - against
ideas of the church)
Erasmus Darwin First evolutionist - "all warm-blooded animals have arisen
(1794)- Charles from one-living filament"
Darwin's Puts forward questions about idea of advanced
Grandfather mammals arising from single-celled organism
"Zoonomia" Evolution (called transmutation) not widely accepted
BUT being discussed by intellectuals in society
Jean-Baptiste de Proposal: living things evolve to become more
Lamarck (1809) - complex through time
"Philosophie Claimed forces within creatures help them
zoologique"-
adapt to their environments
French naturalist
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
Robert Chambers Vestiges of the Natural History of Creation -
(1844) - assumed bestseller in England
to be author of Publishes evolutionary ideas anonymously (as
Vestiges
Church and scientists both against it)
published
anonymously Scientists rally against his evolutionary ideas -
faulty reasoning
Alfred Russel Similar core ideas to Darwins theory of natural selection at
Wallace (1858) same time
 Darwin has work on it for 20yrs and has far more
evidence - similar core ideas
Competition caused Darwin to quickly publish

Charles Darwin A lot of evidence gathered on Beagle voyage for

(1859) - 5 yrs to Galapagos islands British expansion and
"Transmutation of colonising
species" "Origin Galapagos birds showed new species can evolve
of species"- most
over time from a common ancestor
influential
publication on Theory: proposed species in the wild evolve by
Evolution 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
Thomas Huxley Defends Darwin in ape debate against Bishop
(1859) 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
Gregor Mendel Details how traits are passed on through
(1865) generation
Results of his published work unnoticed for
many years
Gould and Proposed punctuated equilibrium - species are
Eldredge (1972) 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 Transitional form - reptiles to

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
Biogeography the study of geographical distribution of organisms both living
and extinct
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

Isolation is necessary for Numerous animals on Galapagos

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
Comparative embryology comparison of the developmental stages of
different species
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
 Species that are related show Fish, amphibians, reptiles, birds and
similarities in their embryonic mammals (vertebrates) show presence of
development - suggests common gill slits & tails with distinct muscle blocks
ancestry during early embryonic life
Comparative anatomy the study of similarities and differences in the
structure of living organisms
More closely Homologous structures (evidence of divergent
related evolution) - organs with same basic structure but
organisms are modifications due to different uses - e.g. pentadactyl (5
more similar in digit) limbs of all vertebrates such as bird wing, lizard
structure than forearm, whale flipper have the same basic bone structure -
those separated suggesting common evolutionary origin
further back in Analogous structures (evidence of convergent
time.
evolution) - body parts that appear similar but anatomy
Limitations:
show vastly different basic structure e.g. protective spines of
Incomplete Australian echidna and European hedgehog to discourage
fossil record predation - originally very different and evolved similarities
Many independently to serve a common purpose/environment
structures Vestigial structures - evolutionary remnants of
must be body parts that no longer serve a useful function in the
compared 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 DNA of a human and a mushroom would
species have similar nucleotide base be weakly combined and DNA would be
order - closely related species' DNA separated at lower temperatures that the
strands combine more strongly than DNA of a human and a chimpanzee
species distantly related. Higher
temperature required to separate
hybrid strands are more strongly
combined
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 Humans and chimpanzees have identical
organisms may have shared a sequence of amino acids in haemoglobin -
common ancestor more closely related than humans and
Differences imply gibbons, which have 3 differences
organisms evolved - number of
differences is proportional to
length of time they separated

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 Comparative anatomy, Biochemical techniques:

organisms to embryology, palaeontology to DNA hybridisation and
determine their compare structural similarities amino acid sequencing
relatedness and differences comparison on a molecular
basis to determine
Limitations: evolutionary relatedness of
distantly related organisms
Did not allow comparisons
of distantly related species Advantages:

All body parts had to be Does not rely on

available homologous structures
 Homologous structures Shows degree of
necessary relatedness, allowing
distantly related species
Results relied on to be compared
observation, ie subjective
and qualitative Only requires one cell
with intact DNA
Palaeontology - there is an
incomplete fossil record Results are objective
only organisms with body and quantitative
parts that were hard/easily
fossilised/ represented by
transitional forms could be
studied

Scientific Then Now

understanding

Relationship Based on structural Amino acid sequencing of

between humans observation, humans were haemoglobin shows that
and other thought to be most closely humans and chimpanzees
primates related to gorillas amongst the have fewer differences in
primates 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 cross-
pollination) 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 non-
roller (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 childs

phenotype must be recessive

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 (well-
proportioned 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) Hypotheses from this

evidence

Experimented with sea urchin eggs Chromosomes are the

Boveri Studied the behaviour of means of inheritance
(researc chromosomes during meiosis & Each chromosome must
h: 1896- after fertilisation in nucleus carry many hereditary
1904) Showed chromosomes were factors (genes)
transferred during the process of Chromosomes could
meiosis exchange factors with
Showed uniting female and male each other during cell
gametes lead to offspring with division (crossing over)
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
Boveris contribution: In 1904 Boveri published a paper in which he stated
that Mendel's heredity factors were located on chromosomes.

Studied meiosis in grasshopper Hereditary units were

Sutton testes carried on chromosomes
(researc Studied the behaviour of Reduction division and
h: 1902- chromosomes random assortment of
1904) Noted the similarity between the chromosomes pairs were
separation and sorting of responsible for the
chromosomes in meiosis and separation and sorting of
Mendels laws about the factors
segregation and assortment of
genes
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 Type(s) of inheritance (sex-linked and/or co-

dominance) which vary from the Mendelian
pattern; explanation
In sex-linkage, the heterogametic sex may have
Individuals have two
only one factor e.g. in humans, males have one X
factors for each
and one Y chromosome - the male genotype is XY,
 so X-linked genes are absent from their Y
characteristic; they may
chromosome and therefore only one copy is present
be the same (ie in pure-
breeding individuals) or
different (ie in hybrid
individuals)
Sex-linkage: genes coding for non-sexual
Factors (genes) are
characteristics that occur on the sex chromosomes
inherited as discrete units
will show inheritance patterns similar to the sex
and are not dependent on
chromosomes on which they occur e.g. sex-linked
whether they come from
recessive traits such as colour-blindness, present on
the male or female parent
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
The trait is expressed in
expressed one allele is not dominant to another
hybrids is dominant,
(e.g. Roan cattle, hybrids resulting from cross-
whereas the one that is
breeding a red parent with a white, have both read
hidden or masked is
and white hairs)
recessive (Mendels first
law: dominance)
The ratios change for both sex-linked and co-
When two hybrids breed,
dominant genes:
they will produce a ratio of
3:1 offspring ie. three Sex-linkage: any recessive genes on the X
offspring showing the chromosome in males will be expressed in the
same trait as the parents phenotype, b/c they are unpaired (no
(the dominant trait) to one equivalent, dominant gene present)
offspring showing the Co-dominance: a hybrid does not resemble
contrasting recessive trait 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 co-
dominance (see below)
Summary
Monohybrid crosses
Only one type of characteristic is involved in the
problem e.g. coat colour there are usually two variations of
this e.g. black/white coat
The genotype is written using capital and
lower case versions of the same letter and no X or
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
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, co-
dominant)
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.)
 1 Set up five cups/test tubes as described below:

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

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

Results
Test tube/cup Observations
1. N Slowest growth rate, least length, least leaves, virtually no root
o fertiliser growth
1. 1 Fastest growth of root and root hairs, longest length in roots and
00% shoot, most leaves, healthy colour etc
fertiliser
1. 5 3rd best growth rate
0%
fertiliser
1. 7 2nd best growth rate, almost same length in root and shoot as
5% 100% but less root hairs, same no. of leaves and healthy colour
fertiliser
1. 2 Dome root growth but very little and less buds
5%
fertiliser

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 Definition Advantage of technology Genetic impact

tive (include an of the population
technolo example) and possible
gy effects on the
evolution of
species
Artificial Involves Sperm is frozen for long term Disadvantage:
insemina inserting storage and transported breeding
tion semen from overcomes the problem of undesirable side
selected male transporting large animals over effects e.g. hybrid
livestock into a long distances cost and time cows with
female animal effective & more offspring extremely large
e.g. cattle, High chance of successful udders
sheep, pigs, fertilisation Reduces genetic
performance/sp Reduces injury to animals in variability (many
orts horses transit of during mating offspring arise
worldwide Semen can be frozen indefinitely from one father)
e.g. humans: Reduced disease transmission Low genetic
man is sterile Introduces desirable traits/ variation pop.
and couple characteristics of one male into cannot evolve in
wants children many females more efficient response to
sperm banks 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
Artificial Process Controls the genetic composition Long term
pollinatio involving the of offspring plants to give the continued
n removal of the most desirable characteristics breeding of the
stamens of a Commercially great consistency same hybrid
flower and in growth rates, food quality lines decreases
dusting the Rapid, widespread change in genetic
pollen from population diversity less
desirable plants Self-pollination grow in greater likely to survive
over fertile numbers since not dependent on a sudden
sigmas of the transferring pollen from one environmental
same flower plant to another changes or
(self- Cross-pollination new hybrid pathogens
pollination) or species e.g. nectarine is a hybrid
another flower formed by crossing a peach with
(cross- a plum short term increase in
pollination) genetic diversity, may result in
e.g. Mendels hybrid vigour (healthier) and
pea plants, equips for adaptation & survival
modern 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 method of obtaining desirable Identical members
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) the

desired gene into the genome of a species to be
genetically transformed:
i. 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
ii. 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
iii. Electroporation increase the membrane permeability by applying an
electrical current
iv. 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)

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 DISADVANTAGES
o Increases yield o High cost of Bt cotton seeds
o Reduction in pesticide use compared to normal
reduces cultivation cost, o Toxin producing efficiency lasts up
environmental pollution and the to 120 days only
development of resistance in o Adverse effect on insecticide
caterpillars manufacturing companies and
o Now able to spray occasionally with employment of persons
a narrow spectrum pesticide to o Ineffective against sucking insects
eliminate sucking insects and mites (whitefly)
(does not wipe out beneficial insects o Promotes malpractice of mixing
like before) 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
can be used to benefit Biodiversity upset as lowers
society and the environ. variation may lead to mass
extinctions
Financial We could create crops more 3 world countries may be unable
rd

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
health supply better nutrition to 3 rd
People with allergies may have an
issues world countries allergic reaction to foods that
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 higher yield at lower costs created as genetically modified
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

Focus 4: The structure of DNA

DNA Replication

Describe the process of DNA replication and explain its

significance

Significance:
All cells

need a
complete
copy of DNA in order to
function properly cell division for growth, repair and
sexual reproduction (pass on genetic information)

Production of polypeptides

Outline, using a simple model, the process by which DNA controls

the production of polypeptides
- process where the information on a single
DNA strand is copied by an mRNA molecule
 - process in which polypeptides are
assembled on the ribosome using
the information in the mRNA
molecule

MODEL polypeptide synthesis

Perform a first-hand investigation or process information from

secondary sources to develop a simple model for polypeptide
synthesis

Classroom = cell
 Chairs formed nuclear membrane (spaces between them acted as pores)
Area enclosed by the chairs (carpet) = nucleus
Long line of desks = chromosomes in nucleus
Long strip of paper = unzipped double helix DNA (in nucleus), small pieces
= mRNA nucleotides
Base sequence written on section of paper

Transcription
1. Cut down middle of paper bases (unzipping)
2. mRNA nucleotides assembled next to corresponding base pairs on DNA
template (on one half of paper) & taped together (peptide bonds)
3. mRNA strand leaves nucleus out of pore
- ribosome = text books with gap up middle for mRNA to pass
through
- tRNA = pipe-cleaner with anticodon & different shaped paper for
amino acid

Translation
4. first codon on mRNA enters ribosome
5. tRNA with corresponding anticodon binds temporarily to codon
6. ribosome moves down to read next codon & tRNA with corresponding
anticodon template binds to it
7. Peptide bond forms between amino acids (taped together) & tRNA
released to get another amino acid
8. Specially marked stop codon reached (so bases break up & move away)
9. Polypeptide chain formed (taped together amino acids)

Benefits:
Highly visual could see complementary natures of bases and codons,
differences between DNA & RNA and transcription & translation viewed on a
manageable scale
Bonding represented clearly with tape
Different areas where transcription/translation occur represented

Limitations:
Work/movement of enzymes not shown (helicase, DNA polymerase, RNA
polymerase)
1. Cytoplasm not represented for when tRNA picks up amino acids
Could only represent codons (groups of three base pairs) not singular
bases
Much shorter code than actual DNA

Proteins & polypeptides

Explain the relationship between proteins and polypeptides

Polypeptide = a chain of many amino acids joined by peptide bonds

Protein = one or more polypeptides joined together

- Sequence of amino acids determines configuration of protein

- E.g. haemoglobin = protein made of 4 polypeptides
Beadle and Tatum

Analyse information from secondary sources to outline the

evidence that led to Beadle and Tatums one gene one protein
hypothesis and to explain why this was altered to the one gene
one polypeptide hypothesis

Experiment: irradiated bread mould (Neurospora crassa) to x-rays to

induce mutations
Normal Bread mould: specific gene produce specific enzymes that catalyse
reactions that produce different vitamins e.g. vitamin B1, B2, B4, B12
Some mutants: changed gene no enzyme no reaction no vitamin
The mutated forms could not produce an essential amino acid (i.e.
particular enzyme no longer functioning) so they concluded that one gene
coded for one enzyme.
Concluding hypothesis one gene, one enzyme
BUT changed to one gene, one protein hypothesis when later realised
that there are other proteins besides enzymes that are encoded by genes
ie not all proteins are enzymes

ALTERED to one gene, one polypeptide hypothesis when later found out
that one gene may not be responsible for coding of a whole protein but
each polypeptide chain making up the protein (proteins consist of one or
more polypeptides)

Mutations

Explain how mutations in DNA may lead to the generation of new

alleles

Mutation a change in a gene/ genetic info new allele created (may or may
not affect organism)

Can be inherited if in a sex cell, NOT a body cell

Usually occurs during DNA replication
Mutations increase variation within a population increases chances of
evolution
Causes (mutagens) radiation e.g. X-rays, UV light, gamma rays from
nuclear reactors & chemicals e.g. asbestos, nicotene

Types of mutations:

1. Change in chromosome number e.g. Down Syndrome (3 copies of

chromosome 21 instead of 2)
2. Change in DNA base sequences:
Flow chart - changes in DNA sequence change in cell activity

Process information to construct a flow chart that shows that

changes in DNA sequences can result in changes in cell activity

DNA (normal) DNA

(mutation)
Gene codes for a specific trait Altered DNA sequence (altered gene)

Transcription (mRNA produced) Transcription (different mRNA strand
produced)
Translation
Translation (tRNA anti-codon diff.)
Polypeptide
Different polypeptide sequence (different
Protein amino acid)

Cell activity Different protein

Cell activity altered

e.g. Respiration is a complex series of reactions where each step is catalysed

by specific enzymes. If DNA that codes for one of those enzymes is changed
different sequence of polypeptides enzyme may not be produced call
cannot respire organism DIES!

e.g. Cystic Fibrosis

Normal Cystic Fibrosis

CFTR gene is normal Mutated copy of CFTR gene

Mucous produced by cells that line Different protein produced
airways is thin in consistency
Mucous is thick

Mutagenic nature of radiation

Discuss evidence for the mutagenic nature of radiation

Beadle and - produced mutant strains of the bread mould Neurospora by x-
Tatum ray exposure

Ionising - Link found in early 20th century between exposure e.g. X-rays
radiation and gamma rays and the increase in occurrence of illnesses
e.g. leukaemia and cancer
- It produces free radicals or electrons when absorbed, causing
deletions, translocations and base substitutions in DNA

Hiroshima & - Tenfold increase in cancer deaths mutations e.g. deletion

Nagasaki and translocation observed in cancer cells, showing cancer
atomic bomb caused by mutations
survivors - physical mutations as a result of radioactive output from
nuclear explosion

Chernobyl - Victims of this nuclear accident have shown high levels of

Incident infertility, genetic mutations, cardiovascular & respiratory
(1986) conditions
- Radiation greatly increased the incidence of mutagen-
induced cancer

Herman - Demonstrated genes in Drosophila fruit fly mutated when

Muller exposed to X-rays
- Changed features such as eye colour and wing shape

Marie Curie - Died of cancer after working with radioactive materials for
years

UV radiation - Greater incidence of melanomas and skin cancer caused by

mutagens
- Blocks the normal replication of DNA

NB not all individuals exposed to radiation (e.g. x-rays) get mutations/damaging

effects

Variation and Natural Selection

Explain how an understanding of the source of variation in

organisms has provided support for Darwins theory of evolution
by natural selection

Darwin and Wallace proposed: new species arise over time because of variation
within a population those best adapted to their environment survive to
reproduce. HOWEVER, they could not explain what caused variation, even
though they realised it could be inherited.

The theory is supported by understanding the sources of variation (inherited) in

organisms:
The random union of Offspring will inherit genetic information from both
haploid gametes parents.
during fertilisation

Independent Enables a large combination of chromosomes in

assortment of gametes (2n gametes possible n is haploid no)
homologous
chromosomes

Crossing Over Increases variety in gametes

Mutations Alters the base sequence in DNA molecules genes

proteins produced. Can also change number of
chromosomes inherited.

Modern example of natural selection

Process and analyse information from secondary sources to

explain a modern example of natural selection

Staphylococcus aureus (Golden Staph) bacteria has caused problems in

hospitals due to rapid rise of its resistance to antibiotics

Selection pressure = antibiotics

1. Variation within GS population

2. When antibiotic given to patient, most of the GS pop. killed but those with
natural resistance survive and reproduce can also pass on resistance
without reproduction
3. Over time, more and more of GS pop. has resistance to a range of
antibiotics (same process when subject to other antibiotics)

OR Development of DDT resistance in insects

Selection pressure = DDT insecticide

1. Variation within insect pop. where some individuals possess a mutant gene
resistant to DDT
2. Those possessing the mutant gene better survive (more insects born than
can survive)
3. The insects containing the mutant gene survive to pass on the gene to
their offspring
4. Eventually, a new population emerges with the mutant gene resistant to
DDT prodominating

Punctuated equilibrium vs Gradualism

Describe the concept of punctuated equilibrium in evolution and

how it differs from the gradual process proposed by Darwin
- Both involve a change in the population over time, occur by natural selection &
explain evolution.

Gradualism (Darwin)
change constantly occurring (small changes at slow rate/ over a long
period of time)
happens in large populations & more common among microscopic
protistants
less evidence of this in the fossil record
e.g. trilobites have continuous fossil records for millions of years (evidence
for gradualism)
e.g. horse evolution has lots of intermediate forms in fossil record

Punctuated Equilibrium
Periods of rapid change followed by long periods of stasis (no change)
Happens in small/isolated pop. (smaller gene pool) & more common in
complex organisms
Helps explain gaps in fossil record (rapid change doesnt allow enough
time for fossilisation)
 Secondary sources: textbook, video:
The structure of DNA: Watson, Crick, Franklin & WilkinsPhoto 51

Process information from secondary sources to describe and analyse the relative importance of the
work of: James Watson, Francis Crick, Rosalind Franklin and Maurice Wilkins in determining the
structure of DNA and the impact of collaboration and communication in scientific research

Scientist Description of work Analysis of Collaboration and Analysis of Collaboration

Importance of Communication (C&C) and Communication
Work
James Produced 3D model of Very important Good collaboration and Close working relationship
Watson & DNA structure (double DNA double helix communication worked between Watson and Crick
Francis Crick helix) structure at last closely together (same aided development of final
Gathered information identified dept. at Cambridge Uni) model
and interpreted How DNA C&C with Wilkins (were Communication with
others research e.g. replicates shown photo of Franklins B Wilkins crucial
Chargaffs base form photo 51) (confirmation of double
pairing (determined Didnt collaborate with helix shape)
ratios of 4 bases in other scientists Final model only able to be
DNA) formed with Franklins x-
Published structure in ray of B form
1953
Rosalind Good mathematical Very import. Little C&C with Watson and Wanted to gather sufficient
Franklin techniques for developed Crick evidence before publishing
interpreting (analysis) technology to Mostly worked alone (didnt helix details
of DNA analyse DNA get along with Wilkins) Better C&C could have
X-ray crystallography Suspected DNA Collab with others (gave helped earlier
(DNA structure had helix lectures to other scientists) determination of DNA
determined using X- structure structure
rays) Crucial HOWEVER did critique first
Discovered B form contributions model e.g. phosphate on
(recognized 2 forms of demonstrated outside
 DNA molecule existed) that double helix
Phosphate groups on for both A&B
outside of DNA form (after
molecule model)
Maurice X-ray crystallography Technique Little C&C with Franklin Good between Watson and
Wilkins of DNA (with Franklin) important for Good with Watson & Crick Crick but if it had been
Extracted DNA that analysis of DNA showed them photo of B better with Franklin,
was photographed by form (Franklins) which was structure may have been
Franklin crucial for their determined earlier
determination of structure