FOCUS AREA 1:

Evidence of evolution suggests that the mechanisms of inheritance, accompanied by selection, allow
change over many generations

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

 Changes in physical conditions in the environment
 Changes in the chemical environment
 Competition for resources
The theory of evolution:
 All organisms have developed from previous organisms and that all living things have a
common ancestor in some initial form of primitive life. All organisms are fundamentally
similar because their basic chemistry was inherited from the very first organisms
Changes in the physical conditions in the environment:
 Temperature, pH, rainfall, water, wind, light, deforestation, ash
Macroevolution:
 Instrumental in the evolution of organic molecules from inorganic substances on early earth.
Supported by the Urey and Miller Experiment
 The reduced incidence of ultraviolent radiation on early earth, as a result of formation of the
ozone layer, is thought to have played a key role in the movement of living organisms from
water to land habitats
 The change in Australia’s climate from cool and wet, to hot and dry. Thus affecting the change
in vegetation from rainforest to woodland, therefore leading to changes in animals life
 The drying up of lakes in central Australia, therefore leading to changes in flora and fauna that
could conserve water (e.g. the water holding frog and the red kangaroo)
 The adaptation to fire resistance
 Severe changes in temperature and sea levels during the ice age, and are believed to have been
the driving force behind the evolution of many life forms
 The arrival of humans lead to extinctions and introduced species which would have to compete
 Changes in sea levels, spitting off of the continents, changes in climate are some
environmental challenges organisms need to cope with
 Changes in environments force species to die out, survive or create diversity
 Peppered Moth: Industrial Revolution (18th Century), Peppered Moths were light coloured and
camouflaged against white lichen on trees but the pollution blackened the trees soothe darker
variant of the moth was better suited to the environment (industrial melanin)
Changes in the chemical conditions in the environment:
 Changes in O2 and CO2 concentrations, salinity, pesticides, heavy metals
Macroevolution:
 The first life are believed to have lived in an anoxic (oxygen-free) environment and some of
these primitive life-forms began to produce carbon dioxide as a result of their metabolism
o The emergence if carbon dioxide in the environment led to the appearance of
photosynthetic organisms
 Increases oxygen levels in the environment led to the evolution of aerobic organisms because
aerobic respiration generates far more energy than anaerobic respiration, these organisms
could grow larger and more complex, therefore leading to greater diversity
 Mosquito and DDT: DDT was an insecticide to kill malarial mosquitoes, in high
concentrations that it was sprayed it was not effective so the few DDT-resistance mosquitoes
survived and passed on genes meaning the population is mainly resistant
Microevolution:
 DNA testing to observe adaptations
Competition For Resources:
 Competition effects evolution because the survival of a species relies heavily on its ability to
obtain the resources needed for life
  There have been several periods of mass extinctions followed by periods of rapid
diversification of surviving populations
 Darwin’s Finches: large beaked birds immigrated to the island creating competition, so
species evolved to have smaller to avoid competing with the larger beaked ones for the large
seeds. During draught the normal seeds became scarce so they evolved to have larger beaks
to crack the tougher seeds
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 and Comparative anatomy
 Biochemistry
Source Definition Evidence Specific example Limitations
Palaeontology The study of Strata/ fossil Fossil record/strata  Fossil record is
fossils record The most Evolution of the horse incomplete
 Mineralised complex organisms  Ancient: small animals with four  Biased towards
remains in are at the top toes organism that are
sedimentary Structural changes  Modern day have only 1 toes easily fossilised
rock can be observed at  Fossils show transitional form (hard body parts or
 Actual each level where toes have fused together up aquatic organisms)
remains Some species have in the ankle  Only some parts of
 Tracings gradually changed, Transitional Species organisms may
(footprints) changed little or Archaeopteryx - 150mya fossilise (not the
become extinct  Bird features: whole thing)
Transitional  Feathers
species  Fused clavicles (wishbone is
Links two groups developed for flight)
(branches of clades)
 Keel bone (keeled sternum)
 Reptile features:
 Teeth
 Bones in tail
 Claws on wings (3 digits)
Biogeography Study of the Species share Ratite - flightless birds
distribution of common ancestors  Found only on Gondwanan continents
plants and animals, when the continents  Evolved from common ancestor in
both living and were joined (but Gondwana but diversified due to
extinct isolation causes new environment and isolation
species)  South America - Rhea
Gondwanan species  Australia - Emu and Cassowary
Similar animals are  NZ: Kiwi (and extinct Moa - 3 metres
found in places tall)
where continents
were joined
Ancient fossils are
found in places
where continents
were joined
Their descendants
are now similar but
different due to
isolation and
different
environments
Comparative Comparison of the Common features Vertebrates
embryology developmental in development  Gills (develop into gills in fish and
stages of different suggest the some amphibians, Eustachian tube
species. evolution from a that connects middle ear with throat in
Similarities may common ancestor mammals)
infer relationships (e.g. vertebrates  Tails
between organisms come from aquatic  Muscle blocks are the same
environment) This suggests evolution from a common
ancestor - fish
Species more Humans and chimpanzees
closely related share  Share more similarities than humans
more similarities in and fish
embryonic
development
Comparative The study of Organisms with Pentadactyl Limb Convergent evolution:
anatomy differences and similar structure, 5 bones associated with the limb two species can be
similarities in the then they must have It has the same basic features in many unrelated but have
structure between been separated vertebrates regardless of the variations similar adaptations and
different from a common and reductions in the bones features
organisms ancestor more Whales, humans, cats, bats They are superficially
recently Whale: paddle, elongated limb related
Similar structures: Human: fine motor, not weight bearing
descent from Vestigial Organs
common ancestor
Differences in 
structures represent R
evolutionary
modifications -
divergent evolution
Homologous
structures: organs
that have same
basic plan to their
structure, but show
modifications
because they are emnants of structures that served
used in different important structures in ancestors, but
ways irrelevant to modern form
Degree of Reduced tail (coccyx) in humans -
similarities arboreal ancestor (animals in trees for
determines the balance - link to primates)
degree of Pelvic girdle in the whales and snakes:
evolutionary suggest common ancestor was on land
relatedness Nesisitating membrane - third eyelid
(phylogeny)
 Supports theory of
evolution
Biochemistry Is the study of  All living things DNA Hybridisation  Techniques are
chemicals found in contain the same  Human & Chimp - 97.6% similar complex, expensive
cells, including the macromolecules Amino Acid Sequencing and rely on highly
study of molecular such as DNA and  Haemoglobin Protein specialised
biology and proteins - similarity  Humans and chimpanzees have technology
genetics in biochemistry is identical sequences of amino acids in  Some changes in
evidence for haemoglobin DNA/Amino Acid
 Involves descent from a  Human and gibbons have 3 differences sequences may not
determining the common ancestor (less related) be identified if a
sequences of  DNA  Cytochrome - C particular change
chemicals such as Hybridisation  All living things contain a variation of that occurred in the
amino acids or  DNA this respiratory protein with a chain of past has reverted
sequences of base Sequencing 100 amino acids back to its original
pairs in DNA  Amino Acid  Differences in amino acids between form in a more
Sequencing different species is a function of how recent organism
Closely related long ago they shared a common
species have fewer ancestor
differences in  Human and chimpanzees: 1 difference
amino acid and in amino acids
DNA and their  Humans and pigs: 10 differences
DNA is
 Humans and tuna: 21 differences
dissociated at
higher
temperatures
DNA Hybridization
 DNA is heated to split the double helix into two strands (disassociation). The single strands
from 2 species are mixed, cooled and then become a hybrid DNA molecule (re-association).
The hybrid is heated again; temperature is measured when the hybrid comes apart. The higher
the temperature the more closely related they are
 Closely related species have a similar order of nucleotides bases so they combine more
strongly
Amino Acid Sequencing
 Sequences of amino acids in proteins are analysed between species (cytochrome c – involved
in chemical respiration, haemoglobin – blood protein)
 Similarities suggest organisms may share common ancestors, differences imply evolution
 Number of differences is proportional to length of time since they separated
DNA Sequencing
 Genes (pieces of DNA) are isolated from organisms
 Multiple copies are made and fluorescent dye is added to determine bases
 A DNA sequencer graphs the sequence and they are compared
 Fewer differences in closely related species
Advantages
 Allows comparison of organisms when homologous structure are unavailable
 Results are quantitive, not based on observation (comparative anatomy)
 DNA sequencing reveals more detailed information than other technique
Explain how Darwin/Wallace’s theory of evolution by natural selection and isolation accounts for
divergent evolution and convergent evolution:
 Darwin’s view of life was ‘descent with modification’, descendants of ancestral forms
adapted to different environments over a long period of time
 Natural Selection:
o Overproduction (producing more young)
o Variation
o Competition (resources e.g. food/shelter)
o Survival of the fittest phenotype
o Favourable combinations increase
 Divergent evolution – adaptive radiation
o Closely related species evolve from a common ancestor to be different over time due
to isolation in different environments facing different pressures
o Natural selection has acted upon similar genetic material but selected different
adaptive variations die to different environments
 o The primates
 Convergent evolution
o Distantly related organisms evolve to be similar over time die to similar
environmental pressures
o Natural selection has acted upon different genetic materials but selected similar
adaptive variations due to similar environments
o Fin and flipper structure in sharks, dolphins, whales and seals (become similar
superficially)
Plan, choose equipment or resources and perform a first-hand investigation to model natural
selection:
 The forceps overall caught the most prey and the most
varied, because of its unique characteristics (two sides
to grip with, precise)
 The predators all were better suited for catching
particular prey
 Benefits and limitations of a model
 Simple to see
 Helps to visualise
 No model can ever explain everything in detail
 Human error
 Validity
 Same amount of prey each trial
 Equal distance to begin with
 Only differing 1 thing: predator
 Reliability
 Replicating 3 times
 Same time frame (1 minute)

Assuming the predator is the same species, we should see a gene becoming more or less common
Gradual increase in a kind of adaptation - this is natural selection
Analyse information from secondary sources to prepare a case study to show how an environmental
change can lead to changes in a species:
 Environmental changes
o The earth continually changes: sea levels, continental drift, change in climate
o This forces species to either die, survive or diversify
 The Peppered Moth
o During industrial revolution in the 18th century, majority were white to blend with
white lichen on trees, the pollution though caused trees to blacken with a spot so the
darker variant was better at being able to hide  population shifted from mainly
white to mainly dark
Perform a first-hand investigation or gather information from secondary sources (including
photographs, diagrams, models) to observe, analyse and compare the structure of a large range of
vertebrate forelimbs:
 An animal of a large group distinguished by the possession
of a backbone or spinal column, including mammals, birds,
reptiles, amphibians, and fishes
 All have similar structure: humorous, radius and ulna bones
 The proportionate length of these bones varies, along with
the wide ranging purposes: swimming, flying, walking
 This pattern however suggests common ancestry - divergent
evolution
 The homology in structure suggests they are all related to
one another, arising from a common ancestor
  Differences in features (variations) (shape, size, fusion) are attributed to divergent evolution
where natural selection has favoured certain features in particular forelimbs, to adapt that
population of organisms to move more effective in their particular habitat
 Tetrapod vertebrates all have a pentadactyl limb (penta - five, dactyl - digit) - five fingers
 The similarities in structure provide evidence they have arisen from a common ancestor
 The differences evident suggest that evolution has occurred - the original plan has become
modified in a particular population because this variation has suited the population's
environment
 The limb has a single proximal bone (humerus), two distal bones (radius and ulna), series of
wrist bones (carpals), five series of metacarpals (palm bones) and phalanges (digits)
 These fundamental structures of the pentadactyl limb as are the same - evolved from a
common ancestor
 In the course of evolution, these structures have been modified
 They have become superficially different and unrelated structures to serve different functions
in adaptation to different environments and modes of life
 Whale: elongated, long phalanges, uses limb to steer, like a paddle because it swims
 Bat: light, thin membrane can stretch over it because it flies, the bat is very agile and can dart
in the sky
Use available evidence to analyse, using a named example, how advances in technology have
changed scientific thinking about evolutionary relationships:
 DNA Hybridisation
o Splitting the double-stranded DNA molecule lengthwise from two
organisms through the use of heat, to expose the nucleotide bases on
each individual strand, they are mixed to form a hybrid DNA molecule
o The stronger the bond is between the organisms’ DNA, the more related
the species are
o This had allowed scientists to determine how closely related species are,
which allows scientists to determine evolutionary paths between
species (precise relatedness)
o Shows whether species have changed either by convergent or
divergent evolution
o Challenged previous beliefs that animals that appeared to be
superficially related were not, this led to the development of the theory
of convergent evolution - environmental conditions have the potential
to change species (but this does not alter DNA, so they cannot breed)
 DNA Sequencing
o Determine the exact order of nucleotide bases in the genes of two
species, compare them
o Genes are isolated, multiplied using fluorescent dyes to distinguish
the bases
o DNA Sequencer print out the sequences to easily compare them
o The fewer difference, the more closely related the species are
o Has established the relatedness of species – determine evolutionary paths
o Previously believed animals that looked the same were related, but convergent
evolution theory has been developed (environmental conditions)
o Now both convergent and divergent evolution can alter organisms
 Human & Chimp - 97.6% similar genetically
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:
 A theory is an explanation of a principle, depending on the evidence available to support the
views. As evidence changes, theories change too, especially as technology advances
 Evolution means a change in living organisms over time
  Evolution was proposed by Charles Darwin and Alfred Wallace in the late 1800s, suggesting
natural selection as the mechanism for the survival of organisms with variations (structure,
behaviour, functioning) advantaging certain organisms
Historical development
 Late 1700s Erasmus Darwin: suggested that the strongest and most active individuals would
survive and continue a species
 1805 Lamarck: first theory of evolution – variation in species had resulted from use and
disuse of body parts, resulting changes that were passed on to offspring – later discredited but
influenced people later on
 1830 Lyell: publishes ‘Principle of Geology’. Natural disasters shaped the world and that the
history of the world was contained in the rock. Discovered that the mechanism for geological
processes was time, the earth was older than it was stated in the bible, discovered solution to
evolution = time!
 1858 Wallace: independently came up with the theory of the mechanisms of natural selection,
wrote to Darwin to discuss it, prompting Darwin to publish his theory – published 1858. He
went to the Amazon and noticed two different coloured tamarins on different side of river
(isolation), contributed to convergent evolution
 1858 Charles Darwin: developed theory based on observations in South America, by the
1840s had points developed but was reluctant to publish because of Church’s power –
published 1858. Darwin waited until the social and political climate was right to release his
findings – when the power of the church was beginning to diminish
Influences on development
Social influence and degree of impact Political influences and degree of impact
French Revolution
 Allowed Lamarck to publish his findings due to the instability of the Church’s authority in
France
 The middle/lower classes resented the church, would accept anything else
Enlightenment
 Great discoveries in the field of science (oxygen, physics)
 More people were open to new ways of thinking
Radical university students
 Darwin associated with many ‘free thinkers’
Industrial Revolution
 Agricultural families were annoyed their jobs were being taken over by machinery
 Change and rebellion was in the air
 FOCUS AREA 2
Gregor Mendal’s experiments helped advance our knowledge of inheritance of characteristics

Outline the experiments carried out by Gregor Mendel:

 (1822-1884) – Was an Austrian Monk who is regarded as the father of genetics
o Mendel carried out pioneering work using pea plants to study the inheritance patterns
of a number of traits (characteristics)
o Mendel observed that characteristics could be masked in one generation and reappear
in later generations
o He showed that inheritance was particulate in its nature (not blending, as what was
previously thought)
o What we now call Medelian Genetics, is the study of inherited characteristics
o We now know these units of inheritance as genes
 Reason for pea plants was that they were easy to grow, produced new generations quickly,
easily distinguishable characteristics, short life cycles, and contained both male and female
parts
 There were 7 pairs of characteristics that Mendel
worked with:
1. Colour – purple/white
2. Flower position – axial/terminal
3. Seed colour – yellow/green
4. Seed shape – round/wrinkled
5. Pod colour – yellow/green
6. Pod shape – inflated/constricted
7. Stem height – tall/short
The process that Gregor Mendel undertook involved the P1 –
F1 – F2
1. Selectively bred plants for each character for 2 years
to produce only pure breeding offspring (e.g. only tall
plants were bred for 2 years to make sure the
offspring produced tall plants)
Done by self-fertilization
All offspring are identical to their parents
All dominant gene
2. He then bred the two parent plants with different characteristics (e.g. tall and a short true-
breeding plant)
Done by cross fertilization
This plant was known as a mono-hybrid cross – one trait was mixed with the two differences
(e.g. height – tall and short was mixed)
This is the F1 generation (filial generation)
Only the dominant factor (gene) appeared in the first generation
3. The F1 generation was either self-fertilised or cross-fertilised to produce another generation
(F2)
Both dominant and recessive factors appeared in the second generation (3:1 ratio)
What happened:
 Each of the seven traits Mendel studied had a dominant and recessive factor
 When two plants were crossed, only the dominant factor appeared in the first generation
 The recessive factor appeared in the second generation in a 3:1 (dominant:recessive)
relationship
Significance
 Mendel did not know about genes back then, but he knew these ‘factors’ were responsible
 Able to propose a model of inherence by predicting the ratios of offspring
 Proved that characteristics were inherited in a definite pattern
  The idea of ‘blending’ was refuted (e.g. tall plant and small plant does not result in a
medium plant)
o E.g. when green and yellow peas were mixed they did not make another form of light
green but rather all yellow as they were the dominant trait
 Mendel’s Law Of Segregation:
 Organisms characteristics are determined by ‘factors’ (now known as genes) that occur in
pairs
 In a sex cell gamete only one factor is present
 When the two gametes come together during fertilization, the factors (genes) pair up and
match with each other, but they do not blend
 Mendel’s explanation of his results are:
 Inheritance is not a blending of characteristics
 Inheritance is controlled by a pair of particles in the cells which he called factors
 These two factors segregate from one another when sex cells are formed
 Characteristics are either dominant or recessive
Describe the aspects of the experimental techniques used by Mendel that led to his success:
How it was a controlled experiment:
 There was a controlled variable in each experiment
 When making the true-breeding population, everything was kept the except one thing (1 of
the 14 options)
o E.g. the pods were the same, the flower colour was the same except the stem was
either tall or short
 Separate green houses to prevent accidental cross-fertilization – bred out the recessive genes
 He hand pollinated which controlled any potential cross-fertilization
 He kept accurate records of the offspring produced because he could strictly control the
breeding patterns of the peas
 Methodical – did one trait at a time
 Replicated – did it hundreds of times (1000 offspring in the F2 generation)

Reliability and Validity:

 Used thousands of plants for each experiment – e.g. testing the 7 different pairs of
characteristics LARGE SAMPLE SIZE
 Got the same results for all of his pairs of traits with all of the experiments
 Only changed one variable at a time, controlling the others
 Identified patterns and trends and applied formulas to draw valid conclusions
Accuracy:
 Used controlled environments
Success:
 Produced quantitative data for analysis by making exact counts
 Used the pea plants that have easily identifiable features
 Able to propose a model of inheritance by predicting the ratios of offspring
Describe outcomes of monohybrid crosses involving simple dominance using Mendel’s explanations:
 Every characteristic is coded by a pair of genes
 Monohybrid crosses involve one factor only – like Mendel did with his pea plants
 Monohybrid inheritance is the inheritance of a single pair of contrasting characteristics
 Mendel’s Monohybrid Crosses
o Studied only one pair of characteristics at a time (e.g. tall stem vs short stem)
o Always different varieties of the same characteristic
 Example: tall x short stems
o F1: self-pollinated pure breeding tall x short stems. Produces a first generation with
all tall plants (dominant factors)
o F2: 3 tall plants and 1 short plant – called the 3-1 monohybrid ratio
Distinguish between homozygous and heterozygous genotypes in monohybrid crosses:
 Alternative factors for the same characteristics are termed alleles, e.g. tall and short alleles for
height
 For each characteristic there are at least two factors controlling the phenotype
 Gametes only contain one factor each
 The combination of alleles is a genotype
Homozygous:
 Two alleles the same (TT and tt)
 Pure breeding –identical alleles for a genetic trait
 Recessive alleles are only expressed when homozygous
Heterozygous:
 The alleles are different (Tt)
 Hybrid (has both alleles)
 The factor that is fully expressed is termed dominant and the factor that has no noticeable
effect is called the recessive
Distinguish between the terms allele and gene, using examples:
Gene:
 Cells contain units for heredity called genes, found on chromosomes
 Genes are a selection of DNA coding for proteins that express itself as the phenotype of an
organism
 Different genes influence different characteristics
 One gene in a pea plant may determine seed colour, whilst another gene determines stem
length
 Genes determine characteristics in humans such as height, eye colour, hair colour and freckles
 Alleles are alternative forms of gene
Alleles:
 Different variations of the same gene (every cell contains two copies of every autosomal
gene, one inherited from each parent
 These versions of the same gene are found in identical positions (loci) on a pair of similar
chromosomes (homologous chromosomes) within the cell
Explain the relationship between dominant and recessive alleles and phenotype using examples:
Dominant:
 When a pair of differing alleles (heterozygous) occur in an individual and only one is
expressed, this is known as the dominant allele
 Example: pea plants – (Tt) results in T (dominant is tall)
Recessive:
 In a heterozygous individual, the allele that is not expressed is called the recessive trait
 Recessive alleles (e.g. red hair) are often carried for several generations without being
expressed
 Example: pea plants – (Tt) results in T (recessive is short)
Outline the reasons why the importance of Mendel’s work was not recognised until some time after it
was published:
Mendel’s work was published (to a small number of people) in 1866, and in 1900 his work was
rediscovered and recognized
 Mendel’s work was progressive, as little was known about cells, chromosomes, mitosis and
meiosis. Studies of genetics did not exist
 He only shared his work with a small number of people
 His work was radical and not easily understood. His ideas were not the accepted belief
 Mendel had no reputation or recognition in the scientific world
 His work was written in German, when the rest of the scientific world was written in English
or French
Perform an investigation to construct pedigrees or family tree, trace the inheritance of selected
characteristics and discuss their current usage:
Pedigrees or family trees:
 Simple ways of describing how characteristics are inherited for several generations
 Standard set of symbols
o Circles = females
o Squares = males
 Offspring are shown in order from left to right
 Symbols show how individuals are related to
each other and which ones have the trait being
investigated
Patterns:
 Two non-affected parents have an affected child
then the trait is recessive
 To affected parents have a non-affected child
then the trait is dominant
 Large bias towards males being affected, or a
generation being skipped, then the trait is
recessive sex-linked
How pedigrees are currently used:
 Used to trace a characteristic through several
generations
 Discover the particular inheritance pattern of a certain genetic condition
 Predict the possibility of producing offspring with genetic conditions
 Can be used to inform a person they might have a genetic disorder that only appears later in
life (e.g. Huntington’s disease)

Solve problems involving monohybrid crosses using Punnett squares or other appropriate techniques:
Answer using
1. Genotype ratio: WW: Ww: ww
2: 1: 1
2. Phenotype ratio: Widow's: Straight
3: 1
3. Probability of widows: 3/4
4. Probability of straight: 1/4

Process information from secondary sources to describe an

example of hybridization within a species and explain the purpose of hybridization:
 The process by which selective breeding is achieved is hybridisation
 Choose desirable traits
 Human is the selective agent instead of nature
 e.g. federation wheat, cattle, Marino sheep
 Hybridisation within species
 Hybridisation between species: liger, mule, zorse (the chromosomes do not line up) but they
cannot breed - this is not what the dot point is asking
Belgian Blue Cattle: 1960s, Belgian Blue + Shorthorn Bulls = extreme muscling in shoulder, back,
loin and rump. This muscling is passed onto their offspring. The muscle fibre is thin and short,
making tender meat with half the fat of Angus beef. This means less waste and more rib-eye meat,
which is in high demand. Through selective breeding they now have easy calving with low birth
weight-fast growing calves with a short gestation period. They can adapt to temperatures from Texas
to Canada. Research has shown they carry two copies of a gene that restricts the production of
myostatin, a protein that inhibits muscle growth.
 Hybrid (heterozygous- alleles different e.g. Tt): the offspring from the crossbreeding of two
distinct races, breeds, varieties, species or genera. The offspring of two plants or animals of
different species or varieties, such as a mule (a hybrid of a donkey and a horse) : a hybrid of
wheat and rye.
 Purpose of hybridization: the purpose is to create a new variety with certain desired
characteristics e.g. higher yield in plants, faster growth rates in and better disease resistance in
animals. In general hybrid organisms are more vigorous, faster growing and healthier than non-
hybrid organisms
 Example: Braford cattle
 Mendels model provided understanding to be used to improve agricultural crops
 Characters could be brought into new combinations in hybrid organisms
 Systematic crosses between different varieties of one species have been carried out, to form
hybrids with new combinations of desirable characters
 The crossing of different varieties of one species to produce new varieties with different
combinations of characteristics is one kind of hybridization. Another kind of hybridization
involves the crossing of different but closely related species.
 They aim of both kinds of hybridization is to create new and better combinations of characters
 Sometimes the hybrid organisms is not able to survive or is infertile
 Its important to note that artificial hybrid offspring are only designed for specific controlled
conditions
 Hybrid plants are more vigorous and higher yielding
compared to true-breeding parents eg hybrid corn (Zea Mays)
 Hybrid corn was produced through double-cross technique.
This involves 2 sets of crossing resulting in the last hybrid
offspring having the favourable alleles of genes from the 4
separate true breeding lines
 This method has also been used in animals eg beef cattle,
increase birth weights
 Some times inbred or true-breeding lines by chance carry
some harmful alleles
 When two lines are crosses, the process of hybridization
introduces favorable alleles into the resulting hybrids. If these
favourable alleles are dominant, their presence will mask the
matching harmful alleles (if the favorable alleles are recessive,
they will not be expressed until they are present in
homozygous condition)
 NOTE: it takes generations of selective breeding specific
characteristics and generations to refine it
 EXAMPLE: hybridization in cattle (pg 17 booklet)
 Hereford cow x Brahman bull ==> Braford
 FOCUS AREA 3
Chromosomal structure provides the key to inheritance

Outline the roles of Sutton and Boveri in identifying the importance of chromosomes:
Sutton and Boveri added to the theory of evolution of inheritance, discovering how genes were sorted
and combined on a cellular level and suggested that chromosomes could be shown to carry the
material for heredity
Boveri:
 Noted that the number of chromosomes halved so that when male and female sex cells
combine, the full number of chromosomes is restored to form the developing offspring
 He also noted that only one sperm could fertilize the egg and thus a set number of
chromosomes was needed for normal development
 These chromosomes possessed different heredity factors
Sutton:
 Sutton revealed that chromosomes occur in pairs which line up during meiosis and separate to
either ends of the cell before dividing so that each cell receives one chromosome from each
pair known as a gamete
 During fertilization, the male and female gametes combine, restoring the full number of
chromosomes
 Mendel’s heredity factors are carried on such chromosomes
Work Findings Conclusions
Theodor Boveri  Studied the  Inheritance factors  Full set of
 German biologist behaviour of cell are chromosomes chromosomes is
 1902 nucleus and (carriers of needed for normal
 Work on sea urchin chromosomes heredity) development
during meiosis and  Chromosomes are  Chromosomes are
after fertilization not at all the same found in the
 Used sea urchin  Egg and sperm nucleus
eggs because: contribute 50% of  There are more
o Easily fertilized chromosomes to than 23 genes,
in a lab zygote therefore more
o Quick larval  Offspring shows than 1 gene is on 1
development features of both chromosome
parents  Chromosomes
 Many genes can be could “cross over”
carried on same
chromosome
 When only 1
parent’s nucleus is
present, resembled
the parent but with
abnormalities
Walter Sutton  Studied  Chromosomes  Fertilization
 1903 grasshopper cells occur in pairs restores the full
 American  Each comes from number of
cytologist each parent chromosomes in
 Homologous pairs the zygote
same size & shapes  Concluded that
 During meiosis chromosomes are
each gamete the carriers of
receives a heredity
chromosome from
each pair
Describe the chemical nature of chromosomes and genes:
Chromosomes:
 Comprised of 40% DNA and 60% protein (histone)
 Chromosomes are compact coils of DNA organized
around proteins called histones
 Chromosomes are often in unwound form, as seen in the
nucleus of a working cell (non-dividing cell)
 Chromatin is made up of DNA and protein (histone)
 A nucleosome is made u of DNA wound in sequence
around 8 histone protein cores
 In essence, chromatin is made of lost of nucleosomes,
with DNA threading them all together
 When cells divide, the chromatin material coils into
short, rod-shaped chromosomes for easy transfer
Genes:
 Code for protein production
 Genes are made up of a portion of DNA that stores
information as a coded sequence
 Each gene is located at a particular locus
on the chromosome

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 bases, A-T and G-C:
Structure of DNA:
 DNA is a double stranded molecule twisted into a helix
 DNA is composed of 4 kinds of nucleotides, each of which
consists of:
o A five carbon sugar called deoxyribose
o A phosphate
o One of 4 bases
 Bases: At The Gold Coast
o Adenine (A)
o Thymine (T)
o Cytosine (C)
o Guanine (G)
 The backbone of DNA is made up of chains of deoxyribose sugar
covalently bonded (strong bond) to phosphate groups
  Each sugar of the backbone is bonded to a nitrogenous base (the bases connect to the sugar,
not the phosphate)
 The phosphate is on the outside, the sugar is on the inside
 The bases join together through hydrogen bonds
 The DNA is highly coiled
o A set of 8 proteins called histones act as spools to wind the DNA into units called
nucleosomes, which form a beaded chain and form additional loops to make up a
chromosome
Location of DNA:
 Prokaryotes – cytoplasm
 Eukaryotes – nucleus, as well as the mitochondria and chloroplasts
Explain the relationship between the structure and behaviour of chromosomes during meiosis and the
inheritance of genes:
 Meiosis leads to the creation of gametes and subsequently the
inheritance of genes
 The stages of meiosis that lead to the creation of gametes and
the inheritance of genes are:
o The chromosomes duplicate, single stranded
chromatids become double stranded chromosomes,
linked at the centre
o During the first meiotic division the homologous
chromosomes separate, but the double stranded are
still joined
o In the second division, the chromatids separate and
form 4 haploid gametes
o Each gamete had only one copy of the homologous
pair (many different combinations possible –
VARIATION)
 During meiosis, chromosomes line up along the equator of the
nucleus, exchanging genetic information with their
corresponding chromosomes before separating to polar ends
of the cell before the cell divides, forming two new cells
known as gametes
 Today, it is known that chromosomes are molecules of DNA
and genes are sections of these DNA molecules, knowing that
humans have 46 chromosomes arranged in 23 homologous
pairs
Genetic consequences of meiosis:
 A cell undergoes two meiotic divisions to crate 4 haploid cells
 Genes in a haploid cell are a combination of genes (maternal and paternal)
 New combination results from crossing over/random segregation
Explain the role of gamete formation and sexual reproduction in variability of offspring:
 Variability relates to the different forms of a gene within a population, which can be caused
by three things:
o Genetics
o Environmental
o A combination of both genes and the environment
 Increase variability – the amount by which individuals in a population vary from each other
genetically
 Variability improves the ability of a population to adapt to changes in the environment,
resulting in an increased chance of survival
 Genetic variation in individual species arises as a result of sexual reproduction
 This involves gamete formation by meiosis, followed by fertilization
 Gamete formation – variability:
 Gametes are formed by a process called meiosis
 It results in halving the number of chromosomes (to 23 making it haploid)
 Sexual reproduction results in combining gametes to produce a new diploid organism
(23+23=46) – this process results in variability of the offspring
 There are 3 things during meiosis that help contribute to variability in offspring
o Crossing over
o Independent assortment
o Mutations
o Random fertilization
Crossing Over:
 Homologous chromosomes exchange genes and so the
resulting combinations of alleles on chromatids differ
from the parent
 The maternal and paternal chromosomes of each pair
may exchange segments of genes, making new
combinations of genes on the chromosomes
 When genes for different characteristics are found on
the same chromosome, they are called linked genes
(usually inherited together). Exceptions to this linkage
of genes occur when crossing over happens. Crossing
over is a swapping of chromatid parts of homologous
chromosomes early in meiosis. This results in
chromosomes with new combinations of genes and
results in increased variation across the resulting gametes
 The new combination are called recombinants
Independent Assortment and Random Segregation:
 The maternal and paternal chromosomes sort
randomly into daughter cells during meiosis
 Every diploid cell has2 alleles for every gene (one
from mum and dad)
 During meiosis they segregate – each haploid
gamete ends up with one allele
 Example: all pink, pink and blue, blue and pink,
all blue – get pulled into different daughter cells
(end of metaphase 1 to produce two daughter diploid cells)
Mutations:
 Mutations may also effect genetic variation
Random fertilization:
 Millions of male sex cells (sperm) have the potential to fertilize the hundreds of female sex
cells (egg). The variety of combination possible when these to two fuse together to from the
zygote increases genetic variation
Describe the inheritance of sex-linked genes, and alleles that exhibit co-dominance and explain why
these do not produce simple Mendelian ratios:
 Sex linked genes are genes that are co-dominant and do not display the phenotype ratios
predicted by Mendel’s Laws
Sex-linked inheritance:
 The human body gas 22 pairs of autosomes and 1 pair of sex chromosomes
 Gametes contain 22 chromosomes + X for a female or X/Y in male
 The gene is carried on the X chromosome, and there is no correcting gene on the Y
chromosomes
 Males have an increased chance of receiving conditions (e.g. red green colour blindness)
because they only need one allele on the X chromosome, while females require two
  Males can only inherit alleles that appear on a Y chromosome, however both genders can
inherit those found on the X. These alleles are known as sex-linkage as they are determined
by the sex chromosomes
 The Y chromosome is much shorter than the X, therefore males will inherit the genes
(whether recessive or dominant) found on the section of the X chromosome that is not present
on the Y. For females however; a recessive allele on an X chromosome can be masked by a
dominant allele on the other, hence they carry the recessive allele without expressing it
 Therefore, males are more likely to express recessive genes found on the X chromosomes as
the do not have the dominant allele on their Y chromosomes to make it, where as females will
require the recessive trait to be present on both X chromosomes to be expressed
 Recessive traits found on the X chromosome therefore have a more frequent prevalence
across the male population then female, as the female would need both recessive traits whilst
the male only needs one.
 If a male did possess the trait and the female did not, it could not be passed to the male
offspring, as he would receive the X chromosome from his mother and the Y from his father,
however it would be passed on as a recessive trait for the female, receiving the X with the
trait from the father, and the X without from the mother
 THE Y CHROMOSOME DOES NOT CARRY SEX-LINKED INHERITANCE
Cross: Homozygous normal female x colour-blind male:
 All offspring have normal site because the mother’s two normal alleles dominate, resulting in
normal males and normal females that are carriers
XN XN
Xn XNXn XNXn
Y XNY XNY
Cross: Heterozygous female x colour blind male
 Half will be colour blind (regardless of gender)
XN Xn
Xn XNXn XnXn
Y XNY XnY
Co-dominance inheritance:
 Refers to the patterns of inheritance where by both alleles in a heterozygous individual are
expressed in the organism, producing a different phenotype to either of the homozygous
parents
 Both factors are dominant in this scenario so no gene takes precedence over the other
 E.g. colour of snapdragons
o Homozygous red (RR) + Homozygous white (WW) = Heterozygous pink (RW)
R R
W RW RW Therefore, 100% pink
W RW RW R W
R RR RW Therefore 25% red, 25% white, 50%
pink
W RW WW

Why co-dominance and sex linkage do not produce simple Medelian rations:
 Mendel’s experiments did not sow sex-specific effects
 Sex linked inheritance shows differences from his ratios
 If genes do not assort independently or do not show dominance, Mendel’s ratios are not
obtained (sex linked inheritance and co-dominance)
Describe the work of Morgan that led to the understanding of sex linkage:
 Males: XY
  Females: XX
 All genes carried on the X chromosome are said to be sex linked
 Morgan faced the paradox: if chromosomes are the bases of inheritance, why do the number
of traits that separate during meiosis exceed the number of chromosomes
 Sutton and Boveri had suggested that more than one trait was present on each chromosome,
but this had not been demonstrated
 Morgan showed this was true in his experiment
 1910 began experimenting with fruit fly
 Investigated the variations in inherited characteristics
 Studied crosses between red-eyed and white-eyed male and female flies
 The offspring produced could not be explained using Mendel’s scheme
 His hypothesis: the gene for the white-eyed in the fruit fly is actually part of the X
chromosome
EXPERIMENT RESULTS SIGNIFICANCE CONCLUSIONS
 Worked with fruit  Led to greater  The gene for eye
flies that normally understanding of colour in fruit flies is
have red eyes how genes are located on the X
 Discovered a arranged on chromosome
mutant male fruit chromosomes  Hereditary factors
fly that had white  How genetic can be exchanged
eyes material can be between the X
exchanged during chromosomes of an
Cross-bred parents: All had red eyes meiosis (crossing individual
White eyed male and a  2 heterozygous over)
homozygous red red females  Proved that some
female  2 red males conditions are sex
XrY x XRXR linked (females can
Cross-bred the F1 Mix of white (only receive them too
Generation: male) and red also)
Red eyed male and  2 red females (1
heterozygous red homozygous, 1
female heterozygous)
XRY x XRXr  1 red male
 1 white male

OVERALL TREND:
80% had red and 20%
had white (not
Mendelian ratio) and
white eyes mostly
affected males
Test cross: Mix of red and
White eyed male and white (male and
heterozygous red female)
female  1 heterozygous
XrY x XRXr red female
 1 white female
 1 red male
 1 white male

Explain the relationship between homozygous and heterozygous genotypes and the resulting
phenotypes in examples of co-dominance:
What is co-dominance
 Co-dominance is an example of inheritance that does not show a Mendelian pattern
 In genes of some organisms, pairs of alleles do not show dominance of one over the other
 In a heterozygote where 2 different alleles for the same gene are present, both alleles are
expressed as separate, unblended phenotypes and so they are termed co-dominant
Homozygous genotypes in co-dominance
 The homozygous genotypes are expressed
Heterozygous genotypes in co-dominance
 Both alleles are present and they are both expressed as separate, unblended phenotypes
EXAMPLE: Human Blood Types
 There are 3 alleles: A, B and O
 A and B are both dominant, O is recessive
 Due to A and B being co-dominant, a genotype of AB will form
EXAMPLE - Cattle
 Pure-breeding (homozygous) cattle have be red or white coats
 Hybrid individuals (heterozygotes) have 1 allele for red and 1 for white coat colour,
resulting in a roan appearance (both red and white hairs are present, no in patches, but
interspersed)
NOTE:
 Incomplete dominance results in new phenotypes, different to the dominant and recessive
traits
 E.g. homozygous white x homozygous red snapdragons produce pink snapdragons
 Co-dominance is a type of incomplete dominance where both alleles are expressed in the
heterozygous form
 E.g. roan cattle have both white and red hair in their coat to give them a roan colour
Outline ways in which the environment may affect the expression of a gene in an individual:
 GENES + ENVIRONMENT = PHENOTYPE
 Genes are not the only factor that can influence phenotype
 Genes and the environment can influence phenotype
 Resources, type of soil, presence of poisons, competition all affect phenotype
 Environment controls the extent to which a genotype is expressed
 The environment may mask or enhance a gene from revealing - turn the gene on or off
 Identical genes do not always result in the same phenotype
 Twins may have different heights due to variations in their diets and health
Epigenetics
 Epigenetic tags are attached to genes, some come from parents but you develop them from
your environment
 The environment gives your epigenetic tags, which then control gene expression (phenotype)
EXAMPLE - Hydrangeas
 Colour is affected by pH
 Acidic environment: flowers will be bright blue
 Alkaline environment: flowers will be pale-pink, or off white
EXAMPLE - Twins
 Different heights due to nutrition
EXAMPLE - Breast Cancer
 High fat and low fibre diets, coupled with the gene for breast cancer

Process information from secondary sources to contrast a model that demonstrates meiosis and the
process of crossing over, segregation of chromosomes and the production of gametes:
MEIOSIS I
Interphase  DNA is replicated
 2 x chromatids = chromosome
 Chromatids condense
 Centrioles duplicate to 4
Prophase  Homologous pairs line up (form a tetrad – connected
together at the chiasma)
 Centrioles move to poles
 Crossing over occurs
 Nuclear envelope disintegrates
Metaphase  Meiotic spindle fully forms
 Homologous chromosomes attach to spindle fibres (each
side of chromosome is attached to either pole)
 Homologous pairs remain aligned
 Independent assortment: homologous pairs randomly
aligns
Independent assortment

 (Red chromosomes on top, then blue, then red etc.) 223

combinations = 8 388 608
Anaphase  Homologous chromosomes separate
 Pulled towards poles

Telophase  Chromosomes de-condense

 Nuclear envelope reforms

Cytokinesis –  Separates the cytoplasmic material

process during  2 daughter cells are separated by a cleavage furrow
telophase

MEIOSIS II – pulling the sister chromatids apart (the 46 X’s just get split down the middle)
Interphase  Centrioles duplicate
 X Y

X X X

X X X

Prophase  Centrioles move to poles

 Chromosomes condense
 Spindle forms
 Nuclear envelope disintegrates

Metaphase  Chromosomes attached to the spindle

 Sister chromatids attach to opposite poles (half of
chromosome attached to each end)

Anaphase  Sister chromatids separate and move towards poles

 Balance though, cannot have things too complicated because then they would be of no help
Solve problems involving co-dominance and sex linkage:
Genotypic ratio of RR:RW:WW = 1:2:1
Phenotypic ratio of red:roan:white = 1:2:1
Telophase  Chromosomes de-condense
 Nuclear envelope reforms
Cytokinesis  Cleavage furrow splits
Haemophilic male and4carrier haploidfemale
daughter cells formed
Benefits
Genotypic ofratio
modelsis XHXh:XHY:XhXh:XhY
Phenotypic ratio is normalprocesses
 Make small/large easy to normal
(carrier) female: see male: haemophilic
 Simple way
female: haemophilic male to comprehend
 Help
Identify to see patterns
data sources and perform a first-hand investigation to
Limitations ofthemodels
demonstrate effect of environment on phenotypes R W
Aim: to Are
test often incomplete/not
the effect accurate of
of the environment – cannot show everything in
phenotype detail
(over simplified)
Hypothesis: seedlings in the different environments will produce
different phenotypes
Equipment:
 10 seeds R R

R W
  Petri dish
 Measuring cylinder
 Cupboard
Variables:
 20mL water
 Same amount of cotton wool
 10 seeds
 Same amount of time
Control:

Method:
 Place 10 seeds in a petri dish containing moist cotton wool (group 1)
 Place the petri dish in a dark cupboard with plenty of air circulation
 Observe after 3 days how many are albino and how many are green

 Repeat with new seeds placed in a sunny area (group 2)

 Move the seeds from the cupboard and place into the sun with the other dish (group 1 and 2)
 After several days compare how many are albino and how many are green
Results:
Group 1: Dish in cupboard (dark) – ALL ALBINO
 8 yellow
 2 white
Group 1: Sunlight
 30% of the seeds remained albino (Mendelian Ratio)
Group 2: Sunlight
 All green? 3:1 ratio some remained white
Discussion
 Both genotype and environment effect the phenotype, the genotype must be the same to
ensure that the changes that occurred was only caused by the environment
 Genetic barley was used: both parents were hybrids – Cc x Cc = 1 mutant (cc)
 The seeds came from a self-pollinated plant – same genotype
 The plants in the cupboard did not produce chlorophyll as they had no need for it
 When placed in the sun, most began to produce chlorophyll, however the true albino plants
remained white the entire time (cc)
 Focus Area 4
The structure of DNA can be changed and such changes may be reflected in the phenotype of the
affected organism

Describe the process of DNA replication and explain its significance:

 Occurs during mitosis and meiosis (towards the beginning)
 Production of two identical double stranded molecules of DNA from one original
The process:
1. DNA double helix unwinds (enzyme = helicase)
2. An enzyme unzips the DNA molecule, breaking the hydrogen bonds (happens to whole
molecule)
3. Floating in the cytoplasm are loose nucleotides (base, sugar, phosphate)
4. Enzymes help the nucleotides join on to the now unzipped DNA molecule (there are now two
chromatids which join at the centromere)
5. The nucleotides attach in an antiparallel direction (one begins at the replication for l and goes
towards the end of the strand, where the other goes the other way)
Significance of DNA replication:
 DNA has 2 main functions
o Heredity
o Gene expression
 Ensures genetic material is copied exactly, occurs before the cell divides so each receives a
full and exact copy of the DNA
 Genetic material must be transmitted between cells during mitosis for growth, repair and
maintenance
 During mitosis, it is necessary for DNA to make exact copies of itself
 If gametes did not replicate, there could not be crossing over, thus no variation
 Incorrect pairing results in mutation
Outline, using a simple model, the process by which DNA controls the production of polypeptides:
Protein Synthesis
 Transcription (copy)
 Translation (change language)
Transcription (occurs in nucleus)
 Enzymes (RNA polymerase) unzip the base pairs in a segment of the chromosome (gene)
 The loose nucleotides floating around that contain ribose (RNA) join on
Thymine does not exist, replaced with uracil (U) which is attracted to A
 There is a stop and start code
 Only happens on one side of the DNA molecule (called the non-coding strand), the mRNA
then slips off and DNA zips back up (DNA never leaves nucleus so mRNA is used)
Translation (occurs in ribosome)
 Turn the language of DNA into the language of
proteins (nucleotides to amino acids)
 mRNA leaves the nucleus, goes to cytoplasm and then
onto the ribosome to make a polypeptide
 Floating in the cytoplasm are 20 different amino acid
molecules in the form of tRNA, tRNA has 3 bases and
an amino acid attached
 He mRNA gets threaded through the ribosome, like
pulling a string, and the tRNA molecules attach
- 3 bases on the mRNA is called a codon, coding for
a specific amino acid
- tRNA has an anticodon and an amino acid
 Enzymes cause the amino acids to bind (polypeptide
bonds) to make a polypeptide
  The mRNA determines the chain of amino acids and their order (template)
 The mRNA is broken down into nucleotides for reuse
 (To make protein, the polypeptides go to the Golgi Apparatus for assembly and packing)
Differences between DNA and RNA
 RNA is usually single stranded
 RNA uses base uracil instead of thymine
 Ribose not deoxyribose
Explain the relationship between proteins and polypeptides:
Polypeptide
 Short length of monomers strung together by a peptide bond
 Polypeptides are often useless on their own and need to be strung
together, often into protein
 Polypeptides are made in the ribosome, travel through the
endoplasmic reticulum (then the to the Golgi Apparatus for protein
synthesis)
 DNA codes for the manufacture of a polypeptide, 1 gene codes for
1 polypeptide
Proteins
 Long molecules made out of amino acids (nitrogen based subunits)
 Polymers made up of repeating sub units/monomers (amino acid)
 There are 20 different amino acids (variation)
 Some amino acids can only come from food, essential amino acids
 The sequence of amino acids determines the configuration of the protein
 The chains of amino acids are frequently folded and twisted to give them a particular structure
Haemoglobin
 Made of 4 polypeptides with a ion molecule in the centre
 Protein = haemoglobin, polypeptide = 4 subunits
 Not 1 haemoglobin gene, there are 4 genes for making each of the polypeptides
Discuss evidence for the mutagenic nature of radiation:
 A mutation is a change in DNA
 Any change in base sequences in DNA results in changes to the polypeptides that are
produced, and is the source of new alleles
 New alleles in organisms come about as a result of mutations
 To produce changes in alleles, the mutation must occur in the germ cells, which are passes
onto the next generation
Gene mutations (more common as recessive alleles):
Base Substitution
 One pair of nucleotides is substituted for another pair. Sometimes there is no effect on the
final protein being made, as several codons can code for the same amino acid. However, if the
wrong amino acid is produced, there may be serious consequences on an organism’s
functioning
Frame shift mutation
 Extra bases are inserted or bases are deleted, shifting the entire strand of DNA and its
nucleotide sequence. The stop codon could be altered and the molecule would be longer than
it should be, altering its size and shape.
Discuss evidence for the mutagenic nature of radiation:
Mutagen = an environmental factor that induces mutation
 During the 20th century there has been increasing evidence to suggest that radiation has
mutagenic qualities, e.g. UV radiation from the sun, ionising radiation from atomic bombs
(Hiroshima), nuclear accidents (Chernobyl) and simple x-rays have all been linked to causing
mutations within a population
 UV light is a known mutagen that causes a deletion of certain bases in the DNA strand.
Another known effect is that thymine bases begin to link together. This subsequently causes
 the DNA to not replicate and the cell die. Mutation rates such as skin cancers have increased
over the years due to the increase in UV light. It is known that die to a increase in pollution
the hole in the ozone is getting larger, thus letting more UV radiation in
 Atomic bombs such as the one in Hiroshima have shown the mutagenic nature of radiation.
The ionising radiation in atomic bombs can break strands of DNA or even whole
chromosomes. The atomic bomb of Hiroshima supports the mutagenic nature of radiation as
many people died from leukaemia from years following the attack as well as descendants of
people effected have displayed mutations
 The Chernobyl disaster of 1986 caused many deaths. However, the full extent of the disaster
has not been fully realised. Over 9 million people have been exposed to the radiation through
food, soil and even water contamination. It is believed that the life span of the people in the
area will dramatically drop due to radiation-induced cancers. The effects of the disaster can
also be seen in that every 3 calves that were born in the area, 2 were still born (first 5 years)
 X-rays have also been linked with causing mutations with patients. In the 1950’s-60’s, x-rays
were used to measure feet, resulting in early induced cancers. Now days, x-rays are only used
under strict circumstances by doctors, dentists and scientists
Explain how an understanding of the source of variation in organisms has provided support for
Darwin’s theory of evolution by natural selection:
Sources of variation
 Mutation of genetic material
 Sexual reproduction – 2 sets of DNA contributing to the offspring
 Meiosis
1. Random assortment and segregation (different chromosomes)
2. Crossing over (on same chromosome)
Mutations, sexual reproduction and meiosis are the mechanisms for how variation arises
Asexual reproduction (not effective)
 Works effectively if the conditions do not change, but they often do
 If there is no genetic variation, there will be extinction
 Because changes in the environment occur gradually, there is often time for favourable
characteristics to be selected by the selecting agent (already have the adaptation)
 Variation is the raw material for natural selection
Our new genetic knowledge is evidence for natural selection, supporting Darwin’s theory of evolution
by natural selection
Darwin did not understand how variation occurred, since we have developed the above understanding,
we now know how variation comes about, and in turn, additional evidence to support Darwin's theory
of evolution by natural selection.
Describe the concept of punctuated equilibrium in evolution and how it differs from the gradual
process proposed by Darwin:
 Darwin’s theory was more lenient towards ‘gradualism’ proposing that populations change
slowly and gradually over time with incremental variation
 However, fossil records suggest otherwise, revealing instead of gradual change, periods of
rapid change, periods of rapid evolution followed by long periods of stability
 In 1972, Stephen Gould and Niles Elderage proposed the theory of punctuated equilibrium,
where equilibrium describes the periods of no changed and the punctuation is a sudden
change in a species in response to environmental changes
 This supported the evidence found in the fossil records, as species will remain in a period of
stasis until a change in a crucial factor within the environment (such as droughts) forces
species to either evolve and survive, or die out
 Thus providing sufficient reasoning for periods of rapid evolution followed by long periods of
stability, or equilibrium
Perform a firs-hand investigation or process information from secondary sources to develop a simple
model for polypeptide synthesis
Transcription
 Chromosome section unzips
 Nucleotides containing ribose join on and make a copy of mRNA
Translation
 mRNA threaded through ribosome
 3 tRNA molecules pick up the amino acids and join up in the
ribosome

Analyse information from secondary sources to outline the evidence that led to Beadle and Tatum’s
‘one gene – one protein’ hypothesis and to explain why this was altered to the ‘one gene – one
polypeptide’ hypothesis:
Hypothesis: It is hypothesized that one gene controls the production of only one enzyme
 
Key points:
 The one gene, one enzyme hypothesis is the idea that each
gene encodes a single enzyme. Today, we know that this
idea is generally (but not exactly) correct.
 Sir Archibald Garrod, a British medical doctor, was the first
to suggest that genes were connected to enzymes.
 Beadle and Tatum confirmed Garrod's hypothesis using
genetic and biochemical studies of the bread
mold Neurospora.
 Beadle and Tatum identified bread mold mutants that were
unable to make specific amino acids. In each one, a mutation
had "broken" an enzyme needed to build a certain amino
acid.
George Beadle and Edward Tatum hypothesised that one gene
controls the production of one enzyme. They worked on the bread
mould Neurospora crassa. Using X-rays, they produced a mould that
was unable to produce a specific amino acid, because it lacked a
necessary enzyme.
 Growth of different strains with different combinations of
nutrients helped establish which enzyme was lacking in each
mutant strain.
 Normal mould grew even on minimal medium, but mutant
mould required additional nutrients.
 An analysis of each mutant strain showed a difference in one
gene which caused a block at one step in the metabolic
pathway.
Beadle and Tatum won the Nobel Prize for Physiology of Medicine
for their work in 1958.
The one gene-one enzyme hypothesis was later altered to the one
gene-one protein hypothesis because not all proteins are enzymes.
This later became the one protein-one polypeptide hypothesis
because not all proteins are made up of one polypeptide.
 
This experiment was of profound importance because it provided a
basic explanation of how genes work at the molecular level.
However, we now know that the picture is more complex. Not all
genes direct the construction of enzymes. Some code for
structural proteins, such as collagen or keratin. Moreover,
different RNA splicing options can produce
distinct polypeptides from the same gene. In addition, some functional proteins, such as the various
haemoglobins, are composed of two or more polypeptide chains, derived from two or more different
genes. Some genes, such as those for tRNAs do not even code for a polypeptide.
 
One gene–one enzyme hypothesis, idea advanced in the early 1940s that each gene controls the
synthesis or activity of a single enzyme. The concept, which united the fields
of genetics and biochemistry, was proposed by American geneticist George Wells Beadle and
American biochemist Edward L. Tatum, who conducted their studies in the mould Neurospora
crassa. Their experiments involved first exposing the mould to mutation-inducing X-rays and
then culturing it in a minimal growth medium that contained only the basic nutrients that the wild-
type, or nonmutated, strain of mould needed to survive. They found that the mutant strains of mould
required the addition of specific amino acids to the minimal medium in order to grow. Using this
information, the researchers were able to associate mutations in specific genes to the disruption of
individual enzymes in the metabolic pathways that normally produced the missing amino acids. This
discovery won Beadle and Tatum the 1958 Nobel Prize for Physiology or Medicine (shared with
American geneticist Joshua Lederberg).
Although the hypothesis was amply verified in principle, it has undergone considerable sophistication
since the 1940s. Today it is known that not all genes encode an enzyme and that some enzymes are
made up of several short polypeptides encoded by two or more genes.
Process information to construct a flow chart that shows that change in DNA sequences can result in
changes in cell activity:
1. If there is a base substitution, there will be a different amino acid codon, forming a different
polypeptide
2. If a base pair is lost or added, there will be a shift along the DNA molecule in producing different
polypeptides
Example: thymine is lost from the start of a DNA sequence that produces an enzyme – if the chain of
amino acids is not in the right sequence, then the enzyme formed will not be function (this case,
premature stop)

Process and analyse information from secondary sources to explain a modern example of natural
selection
 Environmental change caused by humans can lead to changes in a species
The Peppered Moth
 The peppered moth is a moth that rests on tree trunks during the day
 During the mid-19th century most of the moths were very light in colouration
 Darker forms existed but were rare
 During the industrial revolution, the darker variant become more common
 The dark coloured moths had a selective advantage
 The selective pressure in the environment changed to suit the darker form and differential
reproduction or ‘survival of the fittest’ occurred
Process information from secondary sources to describe and analyse the relative importance of the
work of:
 James Watson
 Francis Crick
 Rosalind Franklin
 Maurice Wilkins
In determining the structure of DNA and the impact of the quality of collaboration and
communication on their scientific research:
The work of Watson, Crick, Franklin and Wilkins proved that scientists working together in a
collaborative approach is necessary to achieve breakthroughs.

Watson and Crick used the information of others to determine a model of the DNA molecule. They
proposed the structure of DNA was a double winding helix in which base pairs held the strands
together. They showed that each stand of the DNA molecule was a template for the other, and during
cell division they would separate and replicate. This discover led to the insight that the parity of these
bases made it possible for DNA to replicate.

Rosalind Franklin was an X-ray crystallographer who used X-ray diffraction techniques to develop
the image of DNA. It was through this research and in particular the 51 photo that allowed Watson
and Crick to form their model of DNA structure. In her findings she found the exact parameters and
dimensions of the DNA molecule, and the X shape in the photo gave the scientific evidence that DNA
was in the form of a helix.

Maurice Wilkins supplied Watson and Crick with Franklin’s research and data allowing them to
model the structure of DNA. Without supplying this photograph, this discovery Wilkins also
confirmed that the double helix was the shape of DNA using x-ray crystallography.

This demonstrates the importance of scientists collaborating and communicating their findings. With
exchanging information, it allows quicker and more correct conclusions, as in the case of these
scientists.

The work of these four scientists proves that when scientists work together in a collaborative
approach, breakthroughs in scientific discovery can be made possible. Although Watson and Crick
were able to discover the structure of DNA because they conferred with each other, Franklin's data
from photo 51 allowed them to discover the exact dimensions and parameters of the DNA molecule.
Without Wilkins supplying them the photograph, this discovery would never have been made.
 Focus Area 5
Current reproductive technologies and genetic engineering have the potential to alter the path of
evolution
Identify how the following current reproductive techniques may alter the genetic composition of a
population:
 Artificial insemination
 Artificial pollination
 Cloning
 Reproductive technology: technology used to assist and improve reproduction
 Selective breeding: a type of artificial selection
 Hybridisation initially increases genetic variation as it introduces new combinations of alleles
in the population but as selective interbreeding of the resulting hybrids to maintain favourable
combinations of traits often follows hybridisation. Over time it reduces variation

Reproductiv Description How genetic variation is affected Examples

e technology
Artificial Taking sperm from a chosen Many offspring may arise from 1 male Conservation: increase
insemination male and introducing it into donor, reducing genetic variability numbers of endangered
chosen females species
Alleles which may improve environment
suitability may be selected that may not Myzuri: first gorilla
in nature produced via this
technology at
In most cases 1 exemplary donor Melbourne Zoo
contributes all the genetic material,
resulting in uniform offspring – over
generations genetic variability within
the species is reduced
Artificial Remove the stamens of a flower New combinations of alleles lead to Mendel’s pea plants
pollination and dust the pollen onto the short term genetic variability
stigma of
a) The same flower for self- In most cases 1 exemplary donor
pollination contributes all the genetic material,
b) Another flower (cross resulting in uniform offspring – over
pollination) generations genetic variability within
the species is reduced

Less variation than in the wild as some

Cloning Producing individuals genetically
identical
a) Reproductive: creating
genetically identical
whole organisms
b) Therapeutic: using stem
cells to replace/repair
damaged tissue (e.g.
nerves)
c) Gene cloning: identical
copies of genes
are not allowed to breed
Produces organisms that are genetically Dolly the sheep
identical, reducing variability
Seedless grapes,
Used as form of selective breeding once bananas
an ideal hybrid is obtained
Characteristics can be precisely
controlled
Over generations genetic variability
within the species is reduced
Outline the processes used to produce transgenic species and include examples of this prcess and
reasons for its use:
A transgenic organisms is one who’s normal genome has been altered by introducing a gene from
another species (transgene) into it in such a way that the organism can pass on this transgene to its
offspring during reproduction
NOTE: Genetically modifying means to add and remove genes (to make a transgenic species it must
be between 2 different species and into a germ-line cell; Gene therapy is inserting a healthy copy of a
gene into defective somatic cells (not DNA) – this is not passed on to the next generation so does not
produce transgenic species
Process used to produce transgenic species (5 steps)
1. Identify desired gene
2. Isolate gene
- Use a restriction enzyme to cut out the gene from the DNA molecule
- The same restriction enzyme also cuts out DNA from the plasmid (bacteria) to make
room for the new desired gene
- The cut ends are known as sticky ends and they are complementary so they can
replicate successfully
- Ligases repair and strengthen the DNA that has been cut
- When the gene goes into the plasmid it is called recombined DNA
3. Add regulator or promotor sequences
- Put on either end of the gene so the DNA molecule knows to make new copies of this
gene, to be expressed and activated gene to make the desired polypeptide/protein
(switches on)
4. Make multiple copies of the gene
- Put into bacteria to replicate
- Increases the chances of success
5. Insert gene into the reproducing cells of plants or animals (germ line cells)
- Microinjection: fine glass needle used to insert recombinant DNA into nucleus of
host cell
- Gene gun: blasts small metal pieces coated with DNA into nucleus of host cell
- Electroporation: electric pulses create small pores in nuclear membrane through
which DNA is inserted
- Transduction by viral vector: adenovirus, liposomes or bacterial plasmids; genes are
carried by vector directly into bloodstream or by aerosol delivery (invades cells to
make correct protein)
 After fertilisation the genes become part of the newly formed organism’s DNA
Examples and reasons for use
Bt Cotton (bacteria to plant)
Process Bt cotton was genetically modified to contain a gene that codes for the production of a
used to protein that kills the caterpillar
produce  Bacterium Bacillus Thuringienis: Bt gene is extracted using restriction enzymes
 Bt gene is recombined with a second bacterium as a vector (carrier) which can
invade plant cells and inject the Bt gene
 Cotton plant embryos are dipped in a solution containing the vector bacteria
 Gene is inserted into plant embryo, they then germinate into plants
 Reasons  Traditional pesticides on cotton plants had to be made stronger and applied more
for use frequently to eradicate pests
 The caterpillars were building up immunity due to natural selection

 Reduced the need to use pesticides – better for environment

 Reduces the development of pesticide resistance in the caterpillars
 Growers can now use narrow spectrum pesticides to not kill beneficial insects
like ladybirds and wasps
 The Bt gene is harmless to humans and most animals

Knockout Mice
Process  Replace good genes with a mutated gene through homologous recombination
used to  GEN 1: Breed the mouse with the mutated gene (a brown mouse) with a normal mouse (white
produce mouse)
 This brown-white mouse will have half cells with mutated gene and half without
 GEN 2: When bred again half of the brown-white mouse’s brown children will have defective
gene
 Breed two of the brown children together to make a GEN 3 brown mouse with mutated gene

 The healthy gene has been ‘mutated’

Reasons  If the mice have deformed genes that humans have, trials can be performed to fix them
for use  Study the roles of gene which have been sequenced but whose functions have not been
determined; study gene and it’s inactive form to determine its function
 Mice are currently the most closely related laboratory animal species to humans
Reasons for use
 Transgenic bacteria
o Clean up pollutants
o Produce human hormones
 Transgenic plants
o Pest resistant
o More effective
o Disease resistant
 Transgenic animals
o Disease resistant
o More effective at producing products
Discuss potential impact of the use of reproduction technologies on the genetic diversity of species
using a named plant and animal example that have been genetically altered:
 Biodiversity refers to genetic variety to the millions of different life forms on earth, their
ecological roles and the interrelatedness of living things
 The introduction of foreign genes from genetically modified organisms into the environment
is linked strongly to concerns about loss of biodiversity
Reproductive technologies
 Artificial insemination
 Artificial pollination
 Cloning
 Transgenesis
Impact on genetic diversity
 If the genes of the transgenic species are an advantage to their environment, the gene pool
will increasingly include a greater proportion of these genes
 Genes have the potential to move from their original release point to affect the gene pool of
other plants and animals
  In the short term it can increase genetic diversity because it allows genes to be moved
and produce new combinations
 In the long term genetic diversity is decreased
Plant example – Bt Cotton (Transgenesis)
 Many natural varieties of cotton will be lost
 The species becomes vulnerable to extinction if a disease appears of environment changes
Plant example – strawberries in Scandinavia have been transformed with a salmon gene that allows
them to grow in cold conditions (Transgenesis)
Animal example – Holstein dairy cow (cloning – somatic cell nuclear transfer)
 All members of a species are identical
 Population less likely to survive sudden environmental changes and is vulnerable to foreign
pathogens
 Clones may out-compete natural population, there will be a loss of genetic diversity
 Alleles which may be of benefit in the future (e.g. resisting pathogens) may be lost
 Increase in genetic diversity as genes can be stored for future use – more options in future
Process information from secondary sources to describe a methodology used in cloning:
Cloning is the process of making genetically identical copies of an organism without using the
process of sexual reproduction. Both plants and animals have been successfully cloned.
Somatic cell nuclear transfer (e.g. Dolly the sheep)
 Need at least 2 adult animals, 1 is the source of DNA and 1 is the surrogate/surrogate + cell
 An unfertilised egg acts as a host for genetic material from a specialised cell
 Can confirm if it is clone by DNA hybridisation
Process
1. Donor egg has nucleus physically removed
2. Nucleus from a cell of the species to be cloned is inserted into the enucleated cell from egg
donor
3. a) Electric stimulus is used to fuse the
cell with the nucleus with the egg and to
stimulate cell division by mitosis
b) Nucleus is removed from clone
mother and implanted into egg – no
need for electricity
4. Once the cell had divided enough the
embryo is introduced into a surrogate
mother
5. The clone is genetically identical to the
animal that donated the original nucleus
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:

Ethical issue For Against

Environment and Many new Is it wrong to

nature. Is it ethical to discoveries are ‘play God’ and
interfere with nature? considered to be tamper with
threat at first but nature?
can be used to Biodiversity is
benefit society upset as variation
and the in the gene pool
environment (e.g. is lowered; this
nuclear power). may lead to mass
It we are able to extinctions of
produce products ‘wild’ and/or
that are of modified species.
benefit, it would If GM organisms
be unethical not escape into the
to develop them. wild, they may
Having GM outcompete
organisms may natural species or
reduce the interbreed e.g.
pressure on herbicide
natural resistance
ecosystems that transfers to
provide food and weeds.
other resources We may be
e.g. farming GM changing the
salmon reduces natural process
the risk of of evolution.
overfishing. Is it ethical to
mix genetic
material of
humans with that
of other
organisms?

Financial and social We could create People in third-

justice issues. Is it crops that are world countries
ethical to put a price on more drought- may not be able
genetically modified tolerant/resistant to afford or have
products, thereby giving to pests and have access to
only a select group a higher yield; beneficial GM
access to these? this is cost- products, so they
effective since may fall even
the quality further behind
improves and developed
less money needs countries,
to be spent (e.g. widening the
on pesticides). poverty gap even
Financial gain is more.
essential – Patenting and
money can be put ‘ownership’ of
back into further certain genes or
 research. species – single
companies have
the rights to
technologies;
other companies
do not have
access to them
(even if they
could be
beneficial),
creating a
monopoly.

Medical and health Foods with Potential long-

issues. If we are able to higher nutritional term health risks
make products that bring value may be of GM products
medical benefits and developed to are not yet
improve the health and suppler better known.
quality of life for nutrition to People with
humans, would it be people in third- allergies may
unethical not to do so, world countries. have allergic
even if we are unsure of Reduced use of reactions to food
the consequences? pesticides is they could
better for previously eat, if
consumers’ those goods
health. include DNA of
Transgenic other organisms.
bacteria can be
used to create
useful products
in medicine e.g.
insulin, copies of
CFTR gene for
cystic fibrosis
gene therapy
trials.

Animal and human GM crops may Vegetarians may

rights issues. Is it ethical be used to solve unknowingly eat
to genetically modify good shortages in food with animal
foods or other products third-world DNA.
and make them available countries, Transgenic
to the public, when the producing a animals could be
public may not have full higher yield at created as
knowledge of what they lower cost. genetically
are consuming or being modified ‘works
exposed to, and they are or art’.
not given alternatives and
the right to choose?