9.

3 Blueprint of life

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

1.2.1 Outline the impact on the evolution of plants and animals: Competition, physical and chemical
changes in the environment impact on the evolution of plant and animal species

Competition for resources
Survival of the organism relies on its ability to obtain crucial resources, such as food, shelter
Long-term competition can result in the elimination or evolution of the competing species
(eg) mammals competition with dinosaurs over 65millions years ago meant that there was only a
small population of mammals compared to dinosaurs. Dinosaur extinction 65 million years ago
meant there was no longer competition for mammals and, thus, their population increased
significantly, as seen today

Changes in physical conditions in the environment
The environment has continually changed, such as: sea levels, continent splitting, climate changes
This placed pressure on species, as they must physically change to suit their environment or risk
extinction
(eg) Peppered moths were predominantly white prior to the industrial revolution as they could
camouflage on the white lichen on trees. Post revolution the trees darkened with soot and the
darker variants survived while most of the white moths died. Species evolved from mainly white to
mainly black.

Changes in chemical conditions in the environment
This includes mans introduction of poisons to kill certain pests, increasing pollution and the
composition of the atmosphere
(eg) When DDT was first introduced to kill malarial mosquitoes it was effective. But, it gradually
became less effective as the naturally resistant individuals survived and passed on resistance to
their offspring (survival of the fittest)

1.2.2 Describe using specific examples how the theory evolution is supported by the following areas
of study:

Palaeontology (think fossils are pale)

Refers to the fossil record
(eg) Crossopterygian fish is a transitional form which appeared around 400million years ago. The
fish could breathe oxygen and had bones in its fins. As a result, it is believed this fish could walk on
land and evolutionary change caused it to change into amphibians, followed by reptiles, then birds
and mammals.

Biogeography (bio: biology, geography: positioning on land)

The study of the distribution of living things
Looking at distribution patterns can assist in reconstructing evolutionary history
(eg) Waratah flowers can be found in Australia, New Guinea and South America suggesting the
regions have been connected in the past. This fact contributed to the understanding of Pangea,
which broke down into Laurasia and Gondwanaland and then into the continents we have today

Comparative embryology

The embryo development of different vertebrates are very similar, suggesting common ancestry
(eg) Embryos of different vertebrate all have gill pouches and tails suggesting evolution from a
common aquatic ancestor

Comparative anatomy

Similar anatomy provides evidence towards a common ancestry
(eg) the pentadactyl limb is found on many vertebrates, evidencing a homologous structure but
ranging functions such as flight, grasping and running (bats wing, whale and human)

Biochemistry
Organisms share same basic biochemistry: DNA, RNA, enzymes in metabolism, respiration for
energy
(eg) Similar amino acid sequence for haemoglobin

1.2.3 Explain how Darwin/Wallaces theory of evolution by natural selection and isolation accounts
for:

Divergent evolution
when closely related species experience different environments and, as a result, vastly different
characteristics will be selected, changing their appearance
(eg) elephants are closely related to the hyrax. Hyraxes live amongst rocks and boulders on
mountains, unlike the plains where elephants can be found. However, the comparison of their
skeletons indicate a close relationship between the two groups.

Convergent evolution
when two relatively unrelated species develop similar structures, physiology or behaviours in
response to similar selective pressures from similar environments
(eg) dolphins (mammals) and sharks (cartilaginous fish) have evolved a streamlined body shape
and fins that enable them to move efficiently through their aquatic environment. However, the
two species are only remotely related as vertebrates.
(eg) communal social behaviour has developed independently in ants, termites and bees

1.3.1 Plan, choose equipment or resources and perform a first-hand investigation to model natural
selection

Peppered moth stimulation

Aim:
To evidence the importance of colouration in avoiding predation, relate environmental change to
changes in organisms and explain how natural selection causes populations to change

Materials:
white paper
newspaper
tweezers
coloured pencils
stopwatch
30 newspaper circles
30 white circles

Procedure:
1. On a white paper background, place 30 white circles and get the predator person to pick up as
many circles as they can, using tweezers, in 15 seconds
2. Record the results in a table format
Repeat this procedure with newspaper circles, followed by newspaper background with newspaper
circles, then white circles

Results table:
Trial Starting population Ending population
1
(white circles/white paper)
30 20
2
(newspaper circles/white paper)
30 15
3
(white circles/ newspaper background)
30 15
4
(newspaper circles/ newspaper background)
30 20

Conclusions:
If predators easily seen, they are more likely to be eaten
Best suited to environ will survive (natural selection- either dark or light variation)

Models in science:

Positives:
help simplify difficult concepts (visual representation)

Limitations:
doesnt take other environmental changes into account which may be occurring at same time, such
as a change in temperature > increased humidity > more birds


1.3.2 Analyse information from secondary sources to prepare a case study to show how an
environmental change can lead to changes in a species

Peppered moth in Britain:
Species before the industrial revolution was predominately light as this enabled them to blend in
with the colour of the tree trunks and, thus, they were not eaten by predators (birds)
After the industrial revolution, the trees trunks became covered in soot, making them turn darker
in colour. This physical change resulted in the increase of the black variation of peppered moth as
they were best adapted to this new environment, had increased chance of surviving preditation
and, thus, passed on their characteristics to their offspring

1.3.3 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

The pentadactyl limb
A five fingered limb used for a variety of different purposes such as grasping, running, swimming
and flying.
The pentadactyl limb can be found in whales, humans, cats, bats, birds and primitive lungfish.
This same basic bone structure indicates that these organisms descend from a common ancestor.


1.3.4 Use available evidence to analyse, using a named example, how advances in technology have
changed scientific thinking about evolutionary relationships

Genetic fingerprinting (DNA profiling):
consists of a series of bands, varied in thickness, spread out to form different positions

Uses:
Paternity testing: proving if a man is the father or a child (or not)
Determining the pedigree of valuable animals (eg. racehorses)
Identifying body parts of victims (eg. fire)
Using crime fingerprints and matching with the DNA from family members

Example: DNA Tests Show African Elephants Are Two Species (Hillary Mayell, 2001)
Genetic fingerprinting proved that the savanna and forest elephant are two genetically distinct
species
This fact had major implications as seventy years ago there was 4 million elephants in Africa, now
there are approximately 500,000, the forest elephants making up 1/3 of that number. Proving that
both species are endangered.


1.3.5 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

Erasmus Darwin
1731 1802
Evolution by inheritance
of acquired characteristics
Influenced grandsons
ideas on evolution

Lamarck
1744 1829
1
st
person to publish
theory of evolution
idea of use & disuse &
inheritance of acquired
characteristics
Malthus
1766 1834
Essay on Principles of
Population poverty
& starvation are result
of overpopulation as
growth of population
may outstrip resources
available. Thus
competition exists
Spencer
1820 1903
Proposed concept of
survival of fittest
Charles Darwin
1809 1882
Theory of
evolution by
Natural selection
Alfred Wallace
1823 1913
Theory of Natural
Selection
Lyell
1797 1875
Major influence on
Darwin - earth changed
gradually not catastrophe
- geological processes
observed today have
always occurred earth
is very old













Linneaus
1707 1798
organised life into system
of classification, reflecting
divine design. All species
could be classified in
same orderly system
Buffon
1707 1788
Earth is old & can be
understood in terms of
natural processes also
explain life origins &
changes not separate
creation of species
Cuvier
1769 1832
Extinction happens
it usually happens
during occasional
catastrophic events
Social and political influences:
Religious beliefs would have discouraged people from learning about or accepting the theory of
evolution.
Scientists would have had to be extremely dedicated to their work to stand up to this widespread
opposition (eg. during industrial revolution)


2. Gregor Mendels experiments helped advance our knowledge of the inheritance of characteristics

2.2.1 Outline the experiments carried out by Mendel

Mendel studied the genetics in pea plants (seed shape and colour, pod shape and colour, flower
colour and stem length)

Mendels Method:
Mendel selectively bred plants for two years to ensure pure breeding offspring
1. Firstly he crossed two pure breeding plants (e.g. long stem, green seed x short stem, yellow seed)
2. Then he crossed the off-spring (the F
1
generation) in over 20,000 pea plants

Mendels results:
Each of the 7 traits had a dominant (D) and recessive (d) factor
Two pure breeding plants crossed = only dominant factor appeared in the first generation
Offspring from pure breeding plants crossed = recessive factor appeared in second generation in a
3:1 (dominant:recessive) ratio

Mendels conclusions
An organisms characteristics are determined by factors (genes) that occur in pairs
During fertilisation one factor from each parent is contributed
One factor is dominant over the other, they dont

2.2.2 Describe the aspects of the experimental techniques used by Mendel that led to his success

Five main factors that led to Mendels success (CCPQI: Claire Can Poo Quite Intensively)
He studied a large number of characteristics in the plants
He carried out a large number of crosses between plants
He used pure breeding lines so the genotypes were known
He made exact counts of characteristics producing quantitative data
He studied separate identifiable characteristics that occurred in pairs

2.2.3 Describe outcomes of monohybrid crosses involving simple dominance using Mendels
explanations

Dominant genes are represented using a capital letter (T)
recessive genes are represented using a lower-case letter (t)

Mendel's cross:

Purebred cross
Parents: TT x tt
Possible gametes: Tt
Key:
Tall plants (T)
Short plants (t)

Offspring (F
1
): 100% Tt (heterozygous tall)

Cross-breeding of F
1
Parents: Tt x Tt
Possible gametes: TT, Tt, tt

Offspring (F
2):
25%TT : 50%Tt : 25%tt

2.2.4 Distinguish between homozygous and heterozygous genotypes in monohybrid crosses

homozygous genotype: genotype containing two of the same alleles, whichever allele is present
will be expressed as the phenotype
heterozygous genotype: genotype containing different alleles, the dominant allele will always be
expressed as the phenotype

2.2.5 Distinguish between the terms allele and gene using examples

Allele: alternative for a particular inheritable characteristic
(eg) tall (T) and short (t) are two alleles for the characteristic of height in some plants.
These factors are genes: a section of DNA coding for proteins that expresses itself as the
phenotype of an organism.
Alleles are alternative forms of a gene

2.2.6 Explain the relationship between dominant and recessive alleles and phenotype using examples

If a dominant gene is present in the genotype it will always be expressed as the organisms
phenotype (appearance)
If a recessive gene is homozygous the allele will be expressed as the phenotype
If the gene is heterozygous the dominant allele will by expressed as the genotype.

2.2.7 Outline the reasons why the importance of Mendels work was not recognised until sometime
after it was published

He only presented his paper to a small group of scientists
It was radically different, it may not have been understood or recognised as insignificant
He may not have been considered a scientist as he was a monk
He had little contact with other scientists
His work appeared out of nowhere

2.3.1 Perform as investigation to construct pedigrees or family trees trace the inheritance of selected
characteristics and discuss their current use

Patterns:
2 non-infected parents have an affect child = recessive trait
2 affected parents have non-affected child = dominant trait
Large bias towards males being affected may skip generations = sex-linked trait

Current use:
Diagnostic and screening tool
Potential genetic conditions can be identified and appropriate referrals made

Limitations:
Cant predict with absolute certainty
Accurate family history is difficult to obtain (deceased, forget)
Issues of confidentiality and privacy

2.3.2 Solve problems involving monohybrid crosses using Punnett squares or other appropriate
techniques


2.3.3 Process information from secondary sources to describe an example of hybridisation within a
species and explain the purpose of this hybridization

Hybridisation:
Breeding of two different varieties or breeds within a species
Results in offspring with favourable characteristics

Example: Border Leicester / Merino Cross ewe
More lambs per unit = increased money per lamb in less time
Grow rapidly to heavy weights
Superior skin - elimination of ribbing
Superior meat producing traits


3. Chromosomal structure provides the key to inheritance

3.2.1 Outline the roles of Sutton and Boveri in identifying the importance of chromosomes

Sutton and Boveri: The Chromosome Theory of Inheritance
Chromosomes occur in pairs in body cells
Each member of chromosome pair separates into separate gametes during meiosis
New pairs of chromosomes form when gametes unite in fertilization
Hundreds of genes are located on each chromosome

Evidence:

Sutton
Showed grasshopper chromosomes were distinct structures
Associated behaviour of chromosomes with Mendels inheritance of factors and concluded
chromosomes were carriers of hereditary units

Boveri
Showed sea urchin chromosomes were not all the same and that full complement was required for
normal development of an organism

3.2.2 Describe the chemical nature of chromosomes and genes

Chromosomes:
60% protein and 40% DNA
linear sequence of genes
Long strands of hereditary info containing genes made of DNA
DNA is coiled around proteins called histones

3.2.3 Identify that DNA is a double stranded molecule twisted into a helix with each strand comprised
of a sugar-phosphate backbone and attached bases- A, T, C and G connected to a complementary
strand by pairing the bases A-T and C-G

3.2.4 Explain the relationship between the structure and the behaviour of chromosomes during
meiosis and the inheritance of genes

Genes are coded within the DNA on the chromosomes
During division each chromosome make an exact copy of itself. The copy is attached to the original
chromosome by a centromere
One of each pair of the homologous chromosomes move into a new cell.
The duplicated chromosomes separate to single strands resulting in 4 non-identical haploid (half
the number of chromosomes) gametes
The Law of Segregation: genes on different chromosomes separate independently of each other

3.2.5 Explain the role of gamete formation and sexual reproduction in variability of offspring

Variation in offspring is achieved in 4 ways-
Crossing over: chromosomes of each pair may exchange segments of genes making new
combinations of genes on chromosomes
Random segregation: creates genetic recombination of the original materal and paternal
chromosomes
Fertilisation
Mutation

T: thymine
A: adenine
G: guanine
C: cytosine

3.2.6 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 inheritance
Any allele for a trait located on the female (XX) or male (XY) chromosomes is referred to as a sex-
linked inheritance trait (eg. colour blindness, haemophilia)
Males have one X, thus the occurrence of X-linked traits occur more frequently in males

Co-dominance and incomplete dominance:
Incomplete dominance: results in new phenotype different to the dominant and recessive traits
(eg) Red snapdragons bred with White snapdragons can produce Pink snapdragons

Co-dominance: type of incomplete dominance where both alleles are expressed in a heterozygous
form
(eg) Roan cattle have both red hairs and white hairs present to give the roan colour

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

Morgan crossed a white eyed male (recessive) with a pure breeding red eyed female (dominant)
and the F
1
offspring all had red eyes.
Morgan crossed the F
1
generation to produce and F
2
generation that contained a variety of red and
white-eyed offspring, however, the only white-eyed flies were males.
Morgan crossed a pure breeding white-eyed female with with a pure breeding red eyed male the F
1

generation consisted of red eyed females and white eyed males 1:1
Morgan concluded that the gene producing white eyes was located on the X chromosome this
gene is said to be sex-linked or X-linked.

3.2.8 Explain the relationship between homozygous and heterozygous genotypes and the resulting
phenotypes in examples of co-dominance

simple dominance cases:
Homozygous dominant = phenotype is dominant allele.
Homozygous recessive = phenotype is recessive allele.
Heterozygous = phenotype is dominant allele

In the case of co-dominance:
Heterozygous organisms would have both phenotypes expressed at the same time, as no allele is
totally dominant over the other (e.g. red and white = roan cattle)

3.2.9 Outline ways in which the environment may affect the expression of a gene in an individual

Appearance = Genotype + Phenotype:
Characteristics of an individual are determined by genes and the influence of their environment
Diet, injury and disease can also affect the final appearance of an organism

Example:
Can be seen through the comparison of identical twins in separate locations

3.3.1 Process information from secondary sources to construct a model that demonstrates meiosis
and the process of crossing over, segregation of chromosomes and the production of haploid
gametes


3.3.2 Solve problems involving co-dominance and sex linkage

Co-dominance: both phenotypes are expressed
Sex-linkage: the trait is linked to the X or Y chromosome

Example:
ABO blood group system: person having A allele and B allele will have a blood type AB because
both the A and B alleles are co-dominant with each other
Roan cattle: has red hair from bull (R allele) and white hair (W allele) from cow which are both
expressed to give roan colouring

3.3.3 Identify data sources and perform first hand investigations to demonstrate the effect of
environment on phenotype

The colour of hydrangea flowers can be related to the pH of the soil they grow in
The snowshoe hare lives in coniferous forests in the northern hemisphere. The hare has a white
coat colour in the winter and a black coat colour in the summer


4. The structure of DNA can be changed and such changes may be reflected in the phenotype of the
affected organism

4.2.1 Describe the process of DNA replication and explain its significance

The process
Step 1: The DNA double helix is unwound by an enzyme (helicase)
Step 2: The DNA unzips forming two single strands
Step 3: Nucleotides are added to the single strands resulting in two identical strands of DNA

The significance
genetic information is passed on from generation to generation (identical copies of genes can be
made)
incorrect coding can lead to mutation in an organism

4.2.2 Outline, using a simple model, the process by which DNA controls the production of
polypeptides

Two steps:

Transcription:
In the nucleus, the double stranded DNA molecules unzip and the
DNA code is transcribed into the single stranded mRNA molecule.
The mRNA moves out of the nucleus into the cytoplasm and
attaches to a ribosome.

Translation:
In the cytoplasm, the mRNA is translated into amino acids.
At the ribosome, the messenger RNA lines up forming a template.
A group of three bases, called a codon, codes for a specific amino acid. There are codes that start
and stop the chain formation. AUG is the starting point for translation.
tRNA has an anticodon (a non-amino acid forming codon) on one end and an amino acid on the
other. A polypeptide is formed as each amino acid is added from tRNA to a chain following the
sequence on the mRNA.


4.2.3 Explain the relationship between proteins and polypeptides

A protein is made up of one or more polypeptides. A polypeptide is made up of a chain of many
amino acids.

4.2.4 Explain how mutations in DNA my lead to the generation of new alleles

Any change in the base sequence in DNA results in changes to the polypeptides that are produced
and is a source of new alleles.
To produce changes in alleles, the mutation must occur in the sex cells of the organism which are
then passed on to the next generation.
(eg) albinism

4.2.5 Discuss evidence for the mutagenic nature of radiation

(eg) X-rays, radiation from atomic bombs and ultraviolet light

A mutagen: an agent which can alter the structure or sequence of DNA

1920s: radiation was the first mutagenic agent known
When X-rays were first discovered, they were thought to be harmless and were a great novelty.
You could even buy an X-ray machine for your home for entertainment. Most of the first
generation of scientists who worked with radiation died of cancer. (eg) Marie Curie and her
daughter both died of leukaemia.
Herman Muller received the Nobel Prize in 1946 for showing that genes had the ability to mutate
when exposed to X-rays.
Beadle and Tatum used X-rays to produce mutations in bread mould in the formulation of their
onegene, onepolypeptide hypothesis.
1945: atomic bombs dropped on Hiroshima and Nagasaki increased the evidence for mutations
caused by radiation. There was a tenfold increase in cancer deaths directly after the bombs were
dropped.

Mutagens may cause death in the individual but unless they affect the sex cells the effect is not passed on
to the next generation.

4.2.6 Explain how an understanding of the source of variation in organisms has provided support for
Darwins theory of evolution by natural selection

Increased technological innovations have led to an increased understanding of the following sources of
variation:
Random fusion of gametes in sexual reproduction
Crossing over of pieces of homologous chromosomes during meiosis
Random assortment of chromosome pairs in meiosis
Random segregation of chromosomes
Mutations of chromosomes and genes

4.2.7 Describe the concept of punctuated equilibrium in evolution and how it differs from the gradual
process proposed by Darwin

Darwin's gradual evolution differs from the concept of punctuated equilibrium proposed by Gould and
Aldridge. Punctuated equilibrium is where evolution is seen as long periods where there is little change in
organisms, followed by a shorter period where there are rapid changes. Evolution is a sudden process
rather than slow gradual change. The evidence for this comes from the fossil record where there are mass
extinctions of organisms followed by the appearance of new species.

4.3.1 Perform a fist hand investigation or process information from secondary sources to develop a
simple model for protein synthesis




4.3.2 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 way altered to the one gene- one
polypeptide hypothesis

Beadle and Tatum used bread mould (neurospora) to investigate nutritional mutations. Using X-rays, they
produced mould that was unable to produce a specific amino acid. The mould was unable to grow unless
the amino acid was added. They showed that genes controlled biochemical processes. Their hypothesis
was that for each gene there was one enzyme or protein. The enzymes that they studied consisted of one
polypeptide but many enzymes consist of chains of polypeptides. Therefore, the hypothesis has been
changed to the one gene one polypeptide hypothesis.

4.3.3 Process information to construct a flow chart that shows the changes in DNA sequences can
result in changes in the cell activity


4.3.4 process and analyse information from secondary sources to explain a modern example of
natural selection

Steps involved in natural selection Steps involved in the development of DDT
resistance in insects
Natural genetic variation within a population

Insect populations often include individuals
possessing a mutant gene (DDT-R) which is
resistant to DDT insecticide
Constant struggle for survival- those best
suited survive: survival of the fittest
Those with resistant mutation (DDT-R) survive,
whilst those without die off
Organisms that survive pass on their favourable
characteristics to offspring
Organisms with DDT resistance pass on this
characteristic to offspring
New population emerges, with new genetically
determined characteristics predominating
New population of DDT resistance species
emerges > insecticide DDT becomes ineffective

4.3.5 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 collaboration and communication in scientific
research



5. Current reproductive technologies are genetic engineering have the potential to alter the path of
evolution

5.2.1 Identify how the following current reproductive techniques may alter the genetic composition of
a population

Artificial insemination
Injection of sperm (semen) into female reproductive tract

Artificial pollination
Transfers pollen from the anthers of one plant to the stigma of another

Cloning
Produces genetically identical organisms through non-sexual means

Effect
Desired characteristic becomes dominant in population
Reduces genetic diversity (restricts gene pool) and, thus, can endanger species

5.2.2 Outline the processes used to produce transgenic species and include examples of this process
and reasons for its use


5.2.3 Discuss the 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

Impact:
Reduction of genetic diversity, causing the species to become vulnerable to extinction

Example: BT cotton
As more and more farmers are shifting from natural cotton to BT cotton
The causes the species to become vulnerable to extinction (ie) If all cotton grown all over the world
is BT, and a disease appears, that kills specifically BT cotton, than there is a risk of cotton
becoming an extinct organism

5.3.1 Process information from secondary sources to describe a methodology used in cloning

Somatic cell nuclear transfer: Dolly the sheep
A mammary cell was removed from Dolly the sheep
and enucleated
The nucleus was inserted into an enucleated egg cell
An electric current is used to fuse the two cells
together
The fused cell begins dividing normally and the
embryo is inserted into the uterus of a foster mother

5.3.2 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

Examples:
Bt cotton: cotton X bacteria gene
TGO E.coli: E.coli X human gene
TGO tomatoes: Tomato X salmon gene

Ethical issues
Disrupts the evolutionary relationships between organisms
Reduces genetic variation (possible extinction of species)
May cause new diseases or encourage the development of resistant strains
Accidental release of cancer cells, bacteria or viruses from genetic engineering labs
Health risks associated with consuming GM (genetically modified) products