Blueprint of life

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 chemical conditions in the environment
- Competition for resources
Theory of Evolution:

The processes of change that have transformed the earliest forms of life into the
diversity of life found today
Also states that all organisms are fundamentally similar because their basic chemistry
was inherited from this very first organism
Have evolved from simple to increasing complex

Changes in the physical conditions in the environment

Changes include:
o Sea level rises and falls
o Splitting of the continents
o Deforestation
o Pollution and great changes in the climate
Include natural conditions such as temp and availability in water
Changes in the environment force species to either die out or survive and diversify
e.g.
The peppered moth
o Due to industry, the dark coloured moths tended to survive until maturity,
because it was simple to camouflage against the dark-sooty trees that it rested
on as a background
o The light coloured alternative almost disappeared because they were easily
spotted and eaten by birds

Changes in chemical conditions in the environment

In the early years of life, the environment on earth was not able to support life as we
know it today

Blueprint of life

An anaerobic atmosphere Preventing the growth of any aerobic organisms

Organisms began developing special pigments which allowed them to exploit carbon
dioxide many organisms appeared and the evolution of plant life resulted in
decreased carbon dioxide and increased oxygen
Chemical changes in the environment impacted on the evolution of organisms
e.g.
Mosquitoes and DDT
o DDT was introduced into the environment to control mosquito populations
o A select few had a resistance to the chemical
o Through natural selection, the mosquitoes are now resistant to DDT

Competition for resources e.g. Tasmanian Devil

Occurs within a species or between species

Long term competition for resources affects evolution because the survival of a
species relies on its ability to obtain the resources for life (food, space and mates)
Usually results in elimination of a competing species or to the evolution of the
competing to occupy different niches/different resources
e.g.
Fruit fly
o Some species of fruit fly have evolved to a different type of fruit tree
o Possible if different flowering and fruit times on each tree type for breeding
cycles in the fruit flies can eventually lead to two distinct species (different
fruit flies for each fruit tree)
o Specialise on slightly different resources to avoid direct competition

Describe, using specific examples, how the theory of

evolution is supported by the following areas of study:
- Palaeontology, including fossils that have been considered
as transitional forms
-biogeography
-Comparative embryology
-Comparative anatomy
-Biochemistry
RECALL:

Blueprint of life

Fossils are any preserved remains or traces of past life found in sedimentary rock of
different ages
They provide a record of how organisms have changed over time

Palaeontology / Transitional forms

Palaeontology is the study of fossils

Fossils fund in rocks lower down are older than fossils found closer to the surface
(unless folding has occurred)
Transitional form is an organism (usually fossils) that possess features of two major
groups of organisms
They show common ancestry between groups of animals living today show some
characteristics of descendant groups but not all- combination of characteristics
They help biologists to understand how evolution may have come about
e.g.
Archaeopteryx
o Small flying dinosaur with feathers
o Appears in late Jurassic
o Shares features with birds and reptiles, suggesting that birds evolved from
these reptiles
o REPTILE features: long-tail, claws, no keel, solid bones, teeth
o BIRD features: wishbone, feathers

Biogeography

The study of the distribution of living organisms on earth

Distribution patterns provide evidence of a common ancestor
If new species arise from evolution then species in an isolated geographic region
will become more similar to the other organisms in their own area compared to those
in a distant region
o e.g. Australia and North America have similar environmental conditions, but
due to isolation, plants and animals are very different

Comparative embryology

The study of similarities between embryos

The similarity between the embryos of vertebrates suggests a common ancestor
o All vertebrates possess gill slits and primitive tails at some form of their
embryonic development

Comparative Anatomy

Blueprint of life

The study of similarities in body structure

Despite the fact that modern day vertebrates have many differences
SEEL SKILLLS POINT ON PENDACTAL LIMB

Biochemistry

Study of living cells, tissues, organisms and organs

If organisms are related by evolution, they should show similarities in their molecular
composition
o A greater degree of similarity should be evident in organisms that are more
closely related
Evolutionary relationships between species are reflected in the DNA and proteins
o One method is to compare proteins in amino acid sequencing
e.g. Cytochrome C-A protein involved in respiration

Explain how Darwin/Wallaces theory of evolution by natural

selection and isolation accounts for divergent evolution and
convergent evolution

Theory of evolution: Species change over a period of time

Natural selection/Adaptive radiation:

Tend to produce excessive offspring

There are variations within every population of species- individuals
Organisms which survive and reproduce are well suited to their environment (survival
of the fittest)
Favourable variations are passed onto offspring and become frequent
e.g. Finches Galapagos Different beaks

The role of isolation:

For a new species to evolve, groups of organisms need to become isolated from each
other
This isolation usually occurs due to a physical barrier
Within each separate population, different mutations occur, and therefore, different
variations are produced
Natural selection acts differently on each isolated population, as there are different
environmental conditions and selection pressures

Blueprint of life

Over time, the populations differ so much that they no-longer interbreed, and as such,
a new species is produced

Divergent evolution:

When a population of organisms evolves to develop different characteristics and

eventually form a different species because they live in different environments
Also known as adaptive radiation
e.g. Darwins finches
o Small finches travelled
across the pacific ocean to
the Galapagos islands
o 14 different species were
described that occupy a
variety of niches
o On different islands, they
had different habitats, diets,
body size and beak size and
shape

Convergent evolution:

When unrelated organisms evolve over time to develop similar characteristics because
they live in similar environments
e.g. Dolphins, sharks, fish
o all developed the dorsal fin as well as a similar overall appearance
o convergent evolution- Australia v Nth America
Australian Marsupial

North American
Placental

Thylacine (Tasmanian tiger) Wolf

Sugar Glider
Flying Squirrel
Marsupial Mole
Mole

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

investigation to model natural selection
Aim: To model natural selection

Blueprint of life
Hypothesis: That we will find the fewest green, most pink and the plain toothpicks would be
the middle percentage found
Materials:

50 green toothpicks
50 plain toothpicks
50 pink toothpicks
Stopwatch

Method:
1. 50 toothpicks of each colour were randomly spread over a 10x10 area without the
collector looking
2. The collector picked up as many toothpicks as possible in 30 seconds
3. The number of each colour of toothpick was counted
Results:
Group

Green

Pink

Plain

Lachy

14

38

12

Jack

12

14

15

Alec

22

23

22

Chris

19

10

Total

56

94

59

Discussion:

The green toothpicks were found least because it was harder to see (camouflaged) in
amongst the green grass. The pink was the most found colour because it was the
easiest to see against the green background. The plain were in-between because they
look like dead grass. There wasnt much dead grass.
The toothpicks represented organisms. The 3 colours represented variation within a
species. The 10x10 m of oval represented the environment. The collector
represented the predator.

Problems:

The experiment was only completed once for each group

5 different predators
Green toothpick had different colour green than the grass
Only well grassed areas were used
No reproduction step was incorporated

Blueprint of life
How can we improve?

Use the same collector

Use the correctly coloured toothpicks
Use a variation of green grass and dead patches

Conclusion: The experiment proved effective, with the hypothesis ending the experiment in a
positive manner. The results showed the stick, or gene/characteristic with the best camouflage
was the green, followed by the plain and lastly pink. Although there were flaws within the
experiment, it still worked but could have been a much more detailed results section if some
minor changes were made.

Perform a first-hand investigation or gather information

from secondary sources to observe, analyse and compare
the structure of a range of vertebrate forelimbs
Homology: The pentadactyl limb

The similarities can be seen clearly

Consists of a forearm bone, connected to a dual lower arm group, connected to the
wrist bones (carpals in humans) which connects to the digits
Each animal has an individual forelimb structure however they all came from a
common ancestor, so they have evolved and adapted this structure in relation to their
environment

Use available evidence to analyse, using a named example,

how advances in technology have changed scientific thinking
about evolutionary relationships

New technologies, especially in the field of biochemistry, have increased knowledge

about the relationships between species
Techniques such as DNA hybridisation and amino acid sequencing have shown the
degree of similarity and evolutionary pathways of organisms
DNA Hybridisationo The process uses heat to separate the two strands of the double helix, from two
different species
o The single strands of the different species are then mixed and cooled
o On cooling, the hydrogen bonds re-form in varying degrees
o The greater the number of bonds between the strands, the greater the degree of
genetic similarity between the two species

Blueprint of life
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

Christianity was a very dominant force during the time of Charles Darwin
He knew what a huge impact it would have on the world, so withheld his knowledge
for twenty five years
o His theory challenged GODs creation story
He only published his information when he felt the social and political climate was
right
Chose to publish it during the Industrial Revolution
o A time when the power of the Church was lowering
Wallaces willingness to publish his own version of evolution prompted Darwin

Blueprint of life
2. Gregor Mendels experiment helped advance our
knowledge of the inheritance of characteristics
Outline the experiments carried out by Gregor Mendel
Mendel:
o Mid 19th century
o Investigated inheritance
Crossed pea plants and investigated the outcomes
o Would cross two contrasting, pure-bred pea varieties
e.g. smooth seeded peas X Wrinkled seeded peas
o The first generation of offspring all looked like the dominant characteristic
(Smooth seeds)
o In the second generation, the recessive gene would appear
Devised two laws:
1. Law of segregation:
An organisms characteristics are determined by factors/alleles (we call them
genes) that occur in plants
Alleles account for variations in inherited characters
For each gene, there are two alleles, one from each parent. The dominant allele
will be expressed instead of the recessive allele
The two alleles for each character segregate during gamete production
2. Law of independent assortment:
During fertilisation, the factors pair up again; they dont blend, but match up
with each other offspring receive one factor from each parent (random
assortment) leads to a variety of allele recombination in the gamete cells
Mendel also observed that characteristics are either dominant or recessive
discrete units
o One factor is dominant over the other, they dont blend
o The recessive factor is masked by the dominant, and only appears
rarely
His results can be explained through the use of punnet squares

Describe the aspects of the experimental techniques used by

Mendel that led to his success
Reasons for success:

Was well organised, keeping very accurate results which he analysed mathematically
He studied a large number of CHARACTERISTICS, but only one at a time
Selected traits which were easily recognisable

Blueprint of life

o e.g. tall or short

He started with only purebred individuals through years of control
He controlled the pollination process- cross pollinated (by hand)
His experiments were repeated an enormous amount of times
To ensure self-pollination did not occur, he
o Removed the stamens from one of the pairs he was crossing and then hand
pollinated the other member
o In other words- he DE-SEXED half of the plants

Describe outcomes of monohybrid crosses involving simple

dominance using Mendels explanations

Genotype: The genetic make-up/arrangement (usually refers to one chararcteristic)

Phenotype: The physical characteristics/appearance of an organism-observable trait

*Mendel called genes factors

A monohybrid cross is where only one characteristic (one pair of genes) is considered.
A di-hybrid cross is where two characteristics are considered.

Monohybrid:

Traced one feature through two generations

Looked at height (either tall or short)
Pure breeding through years of control
Large numbers
Monohybrid cross ratio 3:1
Law of Segregation

F0- Purebred parents

F1- Offspring of parents (1st generation)
F1 Cross- Offspring interbred
F2- (second generation)

Example:

F0

Tall

Short

Blueprint of life
TT

tt

F1

Gametes

All tall
Tt

F1 cross

Tall

F2

Tall

Tt

Tt

T or t

T or t

3Tall:1 Short (Monohybrid cross ratio)

T

TT

Tt

Tt

tt

TT

Tt

tT

tt

Tall

Explanation:

2 factors for each feature

1 factor is dominant
Factors separate at sperm and egg formation
Factors reunite (at random) at fertilization

Law of segregation

Distinguish between homozygous and heterozygous

genotypes in monohybrid crosses
Genotypes pair of genes which contain info of characteristics two possible genotypes in
a monohybrid cross:

Homozygous
o When the alleles are the same for a characteristic.
o The individual is purebred for that characteristic.

Blueprint of life

o e.g. TT or tt
Heterozygous
o When the alleles are different
o The individual carrying the genes is a hybrid
o e.g. Tt

Distinguish between the terms allele and gene, using

examples

A chromosome is a long strand of DNA located in the nucleus

Chromosomes always come in pairs, one paternal and one maternal
The pairs of chromosomes are called HOMOLOGOUS (Structures with common
evolutionary origins but different functions and structures) chromosomes

Geneo A small segment of DNA that codes for a particular protein/feature on a

chromosome
o Is copied and passed from one generation to the next during reproduction

Alleleo The corresponding (matching) pairs of genes along the homologous pair
o They carry information for the same characteristic
o Are either dominant or recessive characteristics
o e.g. smooth or wrinkled seeds

Explain the relationship between dominant and recessive

alleles and phenotype using examples
An organisms traits are determined by dominant and recessive genes:

Dominant and recessive alleles:

o For every characteristic, there are two alleles
When there is more than two more possible variation
o They are always present in pairs in body cells
o In simple genetics, alleles carry either DOMINANT or RECESSIVE
characteristics
Dominant: A gene that is expressed; masks the recessive gene

Blueprint of life

o If you have one dominant allele, it will show the trait

o Doesnt skip any generations
o Any child with the characteristics of one of their parents will have it at least
Recessive: Gene that isnt showing, only expressed in the absence of the dominant
gene
Phenotype: Characteristic, observable trait or physical appearance of an organism
Genotype: The total set of genes in an organism
Taking a characteristic, e.g. pea plant height.
o We represent its genotype with two letters, with each letter representing a
gene
o T dominant, tall allele
o t recessive, short allele
A tall pea plant can either have a genotype of TT or Tt, as the dominant gene is
always expressed
o More likely to occur
o NEVER skips a generation
o Individuals with one dominant allele will show the characteristic
o Any child with the characteristic will have at least one parent with it
Tt Heterozygous tall
TT Homozygous tall
A short plant is always tt as the recessive gene
o Has to be homologous recessive to show the characteristic (appear as a
phenotype)
o Can skip a generation
o May show the characteristic even though their parents dont
tt Homozygous short

Outline the reasons why the importance of Mendels work

was not recognised until some time after it was published

Mendels results were published in 1866, however they were not recognised for
another 34 years
1900s three scientists came up with the same results and people began to
recognise the significance of his experiments
Reasons for the delay
o Only presented the paper to a small group of scientists
o Radically different ideas to previous concepts
o No knowledge of chromosomes and genes at that time significance was
probably not realised at the time
o He was a monk and had no reputation as a scientist
o Was a shy man would not have pushed his ideas

Blueprint of life
Perform an investigation to construct pedigrees or family
trees, trace the inheritance of selected characteristics and
discuss their current use
Pedigrees can be used to:

Trace a characteristic through several generations of family

o Can be of use to a genetic counsellor who can then calculate the risk of a
couple having a child with a particular disease
e.g. Cystic Fibrosis
o Can be used by breeders to show particular blood lines

Tracing a dominant trait in a family tree:

The trait cannot be recessive because both parents in generation 1 have it but not all of
their children do
The trait cannot be sex linked because the female in generation 1 would have had all
male offspring with it.

USE PUNNET SQUARES TO TEST THE OPTIONS ON THESE QUESTIONS AND

THEY BECOME SIMPLE!!

Blueprint of life
Solve problems involving monohybrid crosses using punnet
squares or other appropriate techniques

Monohybrid crosses look at single gene inheritance

Results of a mendilian cross are solved using punnet squares
The following is between two heterozygous crosses for pod colour:
o Parents heterozygous green Gg X Gg
G
GG
Gg

G
g

g
Gg
gg

Genotype: GG: Gg: gg

1 : 2 : 1
Phenotype: Green: Yellow
3 :

o Parents heterozygous green and homozygous recessive Gg X gg

G
Gg
Gg

g
g

g
gg
gg

Genotype: GG : Gg : gg
0 : 2 : 2

Phenotype: Green : Yellow

1

Process information from secondary sources to describe an

example of hybridisation within a species and explain the
purpose of this hybridisation

The Australian Milking Zebu Cattle

Sahival Cow
Heat resistant
Tick resistant

Blueprint of life
2

Poor milk
Jersey Cow
Good milk
Not heat resistant
Not tick resistant

Sahival Cow X Jersey Cow = Australian Milking Zebu

Blueprint of life
3. Chromosomal structure provides the key to
inheritance
Outline the roles of Sutton and Boveri in identifying the
importance of chromosomes
Boveri

provided the first experimental evidence that the nucleus carries hereditary material
Working with sea urchins
o Was able to produce some eggs without a nucleus
o He exposed normal eggs and eggs without a nucleus to sperm from different
species of sea urchin, with the results being:
The normal eggs hatched into larvae that showed characteristics from
both parents
The eggs that lacked the nucleus hatched into larvae that showed only
characteristics from the parent that supplied the sperm
o Thus proved that the nucleus contains genetic material
Since the only part of the sperm to enter the egg is the head, which is
almost entirely nucleus, it was strong evidence for the hereditary role
of the nucleus
Also demonstrated the connection between the hereditary role of chromosomes
This led to cloning

Sutton

Made the essential link between chromosomes that could be seen in cells and
Mendels factors (two choices in the genotype linked to phenotype)
Saw a parallel between the behaviour of chromosomes during meiosis and Mendels
law of segregation
o i.e. that two factors for each character segregate during gamete production
Proposed that the alleles of a gene occur on homologous chromosomes

Describe the chemical nature of chromosomes and genes

Chromosomes are made up of 40% DNA and 60% protein

The DNA is coiled tightly around a protein core
Genes are small segments of DNA
o there may be several thousand on one chromosome
o 3 nucleotides triplet, that code for a AA sequence (changes according to the
nucleotide sequence)
o The sequence forms a protein

Blueprint of life

o Genes are made up of proteins

DNA is made up of:
o Carbon
o Hydrogen
o Oxygen
o Nitrogen
o Phosphate

Identify that DNA is a double stranded molecule twisted into

a helix with each strand comprising of a sugar-phosphate
backbone and attached bases adenine (A), Thymine (T),
Cytosine (C) and Guanine (G) connecting to a
complementary strand by pairing the bases A-T and G-C
DNA (Deoxyribonucleic acid) A double stranded molecule twisted into a helix with each
strand comprising of a sugar-phosphate backbone and attached bases

The primary genetic information that contains all the information for all the reactions
and structures of living things
DNA replication ensures information can be passed onto the next generation

Single strand of DNA is:

Made up of chains of nucleotides (a polynucleotide)

Building blocks sub-units called nucleotides
Each nucleotide is made up of three parts
o Phosphate (never change)
o Sugar (never change)
o Nitrogenous base
Adenine
Thymine
Guanine
Cytosine
Adenine pairs with Thymine (A-T)
Guanine pairs with Cytosine (G-C)

Blueprint of life

Structure:

The phosphate and sugar alternate as the backbone of the strand

Bases attach to the sugar
The other strand of
DNA attaches to the
strand by
complementary pairing
of the nitrogenous bases

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

Meiosis: Cell division to produce haploid daughter cells (gamete) n=23

During meiosis,
o Different pairs of homologous chromosomes behave independently of each
other (random segregation) which produces genetic variation
o Genes on different chromosomes sort themselves out randomly and
independently (chromosome pairs carry different genes- sex cells always
genetically different
The stages of meiosis that led to the creation of gametes and the inheritance of
genes are:

1. Interphase
DNA replication
2. Prophase
Shorten/thicken
3. Metaphase
Move to equator

Blueprint of life
Pair with homologous pairs
4. Anaphase
Move to the poles
5. Telophase
Two new nuclear membranes form
6. Cytokinesis
Splitting

1
2
3
4
5

Single stranded homologous chromosomes duplicate

The single stranded chromosomes become double stranded, linked at the
centre by a centromere
In the first meiotic division, the homologous chromosomes separate and genes
are sorted, but the double-strands of the chromosomes are still joined
In the second division, the chromatids of the chromosomes separate and from
4 new gametes altogether
The ways in which the genes are sorted leads to genetic variation

During meiosis, crossing over can occur at certain stages

o Crossing over the exchange of certain sections of chromosomes, producing
new linkage groups
o i.e. during prophase

Blueprint of life
Independent assortment- haploid Gametes

Early in Meiosis the homologous pairs of chromosomes line up along the cells
equator

Each pair separates and moves to the opposite poles of the cell randomly, the result is
4 possible combinations of chromosomes in the gametes formed

The number of possible combinations of chromosomes is given by 2n

Where n represents the haploid number of chromosomes
E.g. humans with a haploid number of 23 chromosomes the number of possible
combinations = 223 (approximately 8 million)

Blueprint of life
Crossing over

Individual chromosomes are not inherited unchanged.

The process of crossing over occurs early in meiosis when the homologous
chromosomes first come together in pairs
Some portions of the two chromosomes change place
e.g.

Explain the role of gamete formation and sexual

reproduction in variability of offspring

Sexual reproduction involves the joining together of two sex cells (fertilisation of
male and female)
Gametes are formed by meiosis this allows sex cells to join together during
fertilisation (random process)
As a result, a new combination of genes occur, increasing the variability of offspring
The events which create variation in sexual reproduction are:
o Random segregation:
During meiosis, genes on different chromosomes sort independently
They can line up in the middle of the cell in many different ways
This produces many gene combinations, which are different from the
parents
o Crossing over:
The crossing over of genetic material during meiosis results in the
exchange of genes between chromosome pairs
The combination of alleles on the chromosome in the gametes are
different from alleles on the chromosomes on parents
Crosses the chromatid part of the homologous chromosome
o Random fertilisation:
When the male and female mate, the two different gametes randomly
fuse
Many different combinations are possible, which causes variation

Blueprint of life
Describe the inheritance of sex-linked genes, and the alleles
that exhibit co-dominance and explain why these do not
produce simple Mendelian ratios
Sex-linked genes

Are those genes carried on the sex chromosomes

Autosomal is non-sex linked
o Because males only receive one X chromosome, males will always express the
trait when they receive a recessive allele from their mother
o The alleles are shown as superscripts on the X and Y chromosomes
o e.g.
XRXR for a normal female
XRXr for a carrier female
XrXr for a colour blind female
XRY for a normal male
XrY for a colour blind male
Sex chromosomes determine the sex of the offspring (XX or XY)
Sex chromosomes separate during meiosis
e.g. of sex-linked genes haemophilia (disease carried on sex cells)
Resulted from the work of Morgan
Most sex-linked characteristics are recessive

Examples:
Normal female with a colour blind male

X
XC

Xc
XCXc
XCXc

Y
XCY
XCY

All female offspring are carriers

All males are normal

Carrier female with a normal male

X
Xc

XC
XCXC
XCXc

Y
XCY
XcY

of the daughters are normal

of the daughters are carriers
of the males are normal
of the males are colour blind

Blueprint of life

Carrier female with a colour blind male

X
Xc

Xc
XCXc
XcXc

Y
XCY
XcY

of the daughters are carriers

of the daughters are colour blind
of the males are normal
of the males are colour blind

An X-linked dominant trait includes the following features:

A male with the trait passes it on to all his daughters (and none of his sons)
i.e the son gets his Y chromosome, where the dominant trait is on his X
chromosome
A female with the trait may pass it on to both her daughters and her sons
Every affected person has at least one parent with the trait
If the trait disappears from a branch of the pedigree, it does not re-appear

An X-linked recessive trait includes the following features:

All the sons of a female with the trait are effected
All the daughters of a male with the trait will be carriers of the trait and will
not show the trait; the trait can appear in their sons
None of the sons of a male with the trait and an unaffected female will show
the trait unless the mother is a carrier
All children of two individuals with the trait will also show the trait
An example of a sex-linked recessive human disease is haemophilia; a bloodclotting disorder

If the mother has it and the son does not have it, it is not sex linked recessive
If the mother doesnt have it and the son does, it cannot be sex linked dominant
If the father has it and the daughter doesnt, it cannot be sex linked dominant

Co-dominance:

When two alleles are expressed as separate unblended phenotypes, they are said to be
co-dominant
Refers to inheritance when both alleles in a heterozygous organism are dominant.
Both alleles are fully expressed
e.g. Roan cattle-

Blueprint of life

o the patches of red and white are the result of both gene being expressed
separately but without blending
RW would be red in simple sex-linked dominance, but because of Co-dominance, RW
is Roan, which is expression of both genes, but without blending

Does

not produce simple

Mendelian ratios

because:
o A heterozygous animal does not give the dominant trait
o A heterozygous animal gives the Roan colour, resulting in a 1:2:1 ratio

Describe the work of Morgan that led to the understanding

of sex linkage

Morgan studies the breeding of the fruit fly Drosophila

As he was breeding the flies, he noticed one white-eyed male fly among the offspring
of the red-eyed parents
This was strange as the normal eye colour was red
He continued breeding his white eyed male with other females
His results showed that all the white-eyed flies were male
He hypothesised that the characteristic was sex limited, and that it was on the X
chromosome
These characteristics are now referred to as sex linked

Explain the relationship between homozygous and

heterozygous genotypes and the resulting phenotypes in
examples of co-dominance

Blueprint of life

In simple dominance cases,

o If an organism is homozygous dominant, the phenotype is that of the dominant
allele
o If it was homozygous recessive, the phenotype would be that of the recessive
allele
o If the organism was heterozygous, then the dominant allele would be the
phenotype of the organism, as the dominant allele would preside over the
recessive one
In the case of Co-dominance,
o Heterozygous organisms would have both phenotypes expressed at the same
time, as no allele is totally dominant over the other.
o e.g. red and white roan cattle

Outline ways in which the environment may affect the

expression of a gene in an individual

Genes are not the only factor which influence phenotype

GENES + ENVIRONMENT = PHENOTYPE
The environment can control to an extent what phenotype is expressed
e.g.
o A lack of sufficient resources can stunt the growth of a person
o People become more tanned with more exposure to sunlight
e.g. Hydrangeas
o The flowers colour is controlled by pigments known as anthocyanins
o They are affected by pH
o If the Hydrangeas are growing in acidic environments, the flower is bright red
o In alkaline environments, the flowers are blue

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

Blueprint of life

Blueprint of life
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

DNA replication is the process where DNA copies itself, providing the copies of
genes that parents pass to offspring via their gametes
The significance is the that it can reproduce itself exactly
o Identical copies of genes can be made
It is possible because the molecule is a double helix, and the nitrogenous bases only
pair with their complementary partner

The steps for DNA replication

The parent DNA molecule

unwinds/unzips into two separate
strands
As the two strands become exposed,
bases of free nucleotides combine
with bases of the existing strands,
then finally,
The new nucleotides link with each
other
o This ensures that the
replication is exact, resulting
in two molecules of DNA

This is a significant part of meiosis

in which two identical daughter cells
are formed. It is also significant in gamete formation, this is because when gametes
are made, they have single stranded chromosomes

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

controls the production of polypeptides

DNA holds the information for creating proteins in cells

Blueprint of life

Protein is made up of one or more chains of polypeptides

Each polypeptide is made up of amino acids and peptide bonds
The way DNA codes for proteins
o Genetic information is stored in DNA. The code is the sequence of nucleotides
(which determines the sequence of amino acids in protein molecules)
o The information contained in DNA is transcribed into mRNA from a template
strand on the DNA
o A set of three nucleotides (Bases) on the mRNA is the codon (triplet code) for
one particular amino acid
o The genetic code has been worked out so for each codon we know the amino
acid (There are 64 possible combinations)
This means that for one amino acid, there can be more than one triplet
code TCT,TCC, TCA code for the amino acid serine
o Protein synthesis or translation takes place in the ribosome and involves tRNA

The structures involved in polypeptide synthesis are:

DNA: a gene contains a sequence of bases to code for a protein

RNA: RNA is similar to DNA except that instead of deoxyribose as the sugar, it has
ribose. It is single stranded, and instead of thymine, there is uracil

There are three forms involved in polypeptide synthesis:

mRNA: messenger RNA carries the genetic code outside of the nucleus, into the
cytoplasm, where it can be read by ribosomes
tRNA: Transfer RNA carries the amino acids to the ribosome to link and form a
polypeptide chain. tRNA are shaped like clover leaves; there is a different type for
every amino acid. At the bottom of every tRNA molecule is an anti-codon that binds
to the codon on the mRNA strand. This is how the amino acid is linked to the codon
Ribosomal RNA: Ribosomes are made up of protein and RNA

Ribosomes: The ribosome is the active site for protein synthesis. It is made up of protein and
RNA molecules. It can accommodate 2 tRNA at a time
Enzymes: The enzyme that controls the formation of mRNA is RNA polymerase. There are,
of course, many other enzymes that control the process

Stage one: Transcription

A double stranded DNA molecule in the nucleus unwinds a section of itself that
consists of a single gene
One of the strands coding for the gene exposes itself to the nucleoplasm

Blueprint of life

The enzyme, moves along the strand, attaching loose RNA nucleotides to the DNA,
with A-U and C-G, until the whole gene is copied
This new RNA strand is called messenger RNA (mRNA)
A start codon and a stop codon determine the length of the gene

Transcription is the step in protein synthesis during which the gene (i.e. a
particular length of a DNA strand) produces a complementary strand of mRNA
e.g. DNAAGG CTG ACC TGA GGT CCG TAT
mRNA-

UCC GAC UGG ACU CCA GGC AUA

The mRNA then moves from the nucleus to the cytoplasm of the cell

Stage two: translation

The mRNA strands bind to a ribsome in the cytoplasm, with the start codon being
AUG (always). However, AUG also codes for the amino acid methionine. This amino
acid is usually removed later
The ribosome moves along the mRNA strand, to read more of its bases.
tRNA molecules floating in the cytoplasm, which have anti-codons complementary to
the codons of mRNA enter the ribosome. e.g. if the mRNA had an AAG codon, the
UUC tRNA would bind to it
As the tRNA releases its amino acid to attach to the ribosome, it leaves to find another
amino acid. The ribosome can only accommodate 2 tRNA
The ribosome moves along the mRNA, and more and more amino acids are attached,
with peptide bonds, on the growing polypeptide chain
When a stop codon is reached, the polypeptide chain is released into the cytoplasm,
for further processing, to become a protein

Translation is where the mRNA base sequence is translated into an amino acid
sequence of a polypeptide. Translation occurs in the cytoplasm of the cell on the
ribosomes
e.g. mRNAUCC GAC UGG ACU CCA GGC AUA
tRNAAmino acid-

AGG CUG ACC UGA GGT CCG UAU

pro

asp

trp

thr

pro

gly

ile

Blueprint of life
Explain the relationship between proteins and polypeptides

A polypeptide is made up of amino acids linked by peptide bonds

A protein is made up of one or more polypeptide chains, folded to fit a specific
function, often into a globular shape

Explain how mutations in DNA may lead to the generation of

new alleles

A mutation is a change in the DNA information (base sequence) on a chromosome

Gene mutations produces NEW ALLELES of genes in species and so creates new
genetic variation
Three things can happen as a result of a mutation:
o Most mutations are lethal and kill the cell which the mutation takes place in
o In some cases, the mutation is not advantageous or lethal to the organism. It is
a neutral mutation
o VERY RARELY, a mutation will give an organism a phenotypic advantage.
These individuals with the new allele will be at selective advantage, and be
better suited to their environment
Mutation in a body cell is called a somatic mutation. This mutation cannot be passed
onto offspring
If the mutation occurs in the sex organs, then the mutation will be passed onto the
offspring
A mutation in the DNA material affects cell activity, because a change in the base
sequences alters protein production
Types of mutations:
o Change in chromosome number
o Change in DNA sequences
Most mutations are in this category
Large changes can alter the shape of the chromosome
As changes in the DNA or chromosomes created new proteins, this can in turn create
new alleles of genes
This increases variation

Discuss evidence for the mutagenic nature of radiation

A mutation is a change in the DNA

Mutagens are environmental factors that increase the rate of mutation
Effect of radiation on DNA strands

Blueprint of life

o e.g. UV light, X-rays, radioactive materials

o Can cause bases to be deleted, or totally removed from the strand
o Can cause Thymine bases to link together
o This causes a disruption in the normal functions of DNA
o High energy radiation levels can actually break up the whole chromosome
Evidence for the mutagenic nature of radiation:
o UV radiation has been recorded to increase the incidence of skin cancers in
humans. Some regard it as the sole cause of skin cancer
o First generation radiotherapists, who did not know the dangers of radiation,
often died young. Scientists like Marie Curie would carry uranium around in
their pockets, and developed cancers very quickly
o People who live in areas which have been affected by high levels of radiation,
such as Hiroshima or Chernobyl, still show high incidences of cancers and
other mutations in their offspring

Explain how an understanding of the source of variation in

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

We know Darwins theory requires variation to be present within an organism

Our knowledge of genetics tells us where this mutation comes from:
o The random segregation of chromosome pairs during meiosis
o Crossing over of genetic material during meiosis
o Random fertilisation of sex cells
o Random mutation of the genetic material
The phenotypes that are variable are chosen by the environment
Over time, some genotypes become more prevalent than others

Describe the concept of punctuated equilibrium in evolution

and how it differs from the gradual process proposed by
Darwin
Darwins gradualism

Proposed that populations change slowly and gradually over time

However, the fossil records only show rare occasions where this happens
If an environment remains stable over many years, we would expect no changes in the
organisms living there
It is only when the environment changes that natural selection occurs

Blueprint of life

The fossil record in-fact shows periods of stability followed by mass extinctions and
rapid change

Punctuated equilibrium

In 1974, based on evidence, Gould and Eldredge developed the idea of punctuated
equilibrium
The fossil record suggests that organisms evolve suddenly, and remain stable for
millions of years
Punctuated equilibrium proposed that, instead of gradual change, there have been
periods of rapid evolution followed by long periods of stability, or equilibrium

Perform a firsthand investigation or process information

from secondary sources to develop a simple model for
polypeptide synthesis
Model #1- Basic
DNA

Has sequence

Base sequence

Transcription (copy)
mRNA

tRNA

-Copy of of DNA

-moves to ribosomes
-Single strand
-information for one protein
Translation (change)
Polypeptide

-Sequence of amino acids

Modification

Protein

Model #2

Base sequence

Blueprint of life

The steps of protein synthesis:

1. DNA transcription- A gene creates a corresponding strand of mRNA
a. Protein synthesis begins in the cells nucleus
b. The gene encoding protein is
copied to mRNA
i. In which most of the letters
(sugars and bases) still
code together normally
TA
CG
GC
HOWEVER, AU
c. After this transcription, the mRNA is transported out of the nucleus through
tiny pores to go to the site of translation

2. mRNA translation- Occurs in the cytoplasm of the cell on the ribosomes. The
mRNA sequence is translated into an amino acid sequence of a polypeptide

Blueprint of life
a. After the mRNA has been
transported to the rough
endoplasmic reticulum, it is fed
into the ribosomal translation machineries
b. Ribosomes begin to read the mRNA sequence
c. To convert the mRNA into protein, tRNA is used to
read
the mRNA sequence, three nucleotides at a time
i. Here, similar translation of the chemicals
occur
TA
CG
GC
Any remaining AsU
d. Amino acids are represented by
codons, Which are three
nucleotide RNA sequences
e. The mRNA sequence matches
three nucleotides at a time to a complementary set of three nucleotides in the
anti-codon region of the corresponding tRNA molecule
f. Opposite the anti-codon region of each tRNA, an amino acid is attached and as
the mRNA is read off, the amino acids on each of the tRNA are joined together
through peptide bonds

Analyse information from secondary sources to outline the

evidence that led to Beadle and Tatums one gene one
protein hypothesis and to explain why this was altered to
the one gene one polypeptide hypothesis
Research conducted by Beadle and Tatum:

Knew that bread mould grows on a base of sugar, salts and vitamin broth
o This nutrient base was called the minimal medium
They reasoned that these nutrients must be converted into amino acids, and that
enzymes were responsible for this change
They then exposed the moulds to X-rays, to induce mutations
This mutant mould would then grow on the minimal medium
o If the mould grew, it was discarded
o If the mould didnt grow, it was grown on a different medium, containing
amino acids
It was found that if the mould was supplemented with other amino acids, it could
grow healthily
Beadle and Tatum hypothesised that this mutant mould had lost the ability to make
the enzyme to create this amino acid, because the X-rays had mutated the gene

Blueprint of life

Then they hypothesised that one gene was responsible for one enzyme
This was later changed to one gene one polypeptide, because genes code for
many proteins that are not enzymes
Many proteins are made up of more than one polypeptide, and a gene only codes for
one polypeptide

Process information to construct a flow chart that show that

changes in DNA sequences can result in changes in cell
activity

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
James Watson

Discovered the existence of base pairs within DNA

o Key to finding their structure and function
Through the creation of models he discovered that A fits to T and C fits to G using
covalent bonds

Francis Crick

Worked alongside Watson

i.e. Watson and Crick

Rosalind Franklin

Used X-ray crystallography to deduce an X-ray photography of DNA

Blueprint of life

Displayed a rough vision of the double helix structure that prompted Watson and
Crick to then find the exact structure

Maurice Wilkins

Worked with X-ray diffraction

Wilkins discovered that it was possible to produce thin threads from concentrated
DNA solution that contained highly ordered arrays of DNA suitable for the production
of X-ray diffusion patterns.
Using a carefully bundled group of these DNA threads and keeping them hydrated,
Wilkins obtained X-ray photographs of DNA that showed the long, think DNA
molecule had a regular, crystal-like structure in these threads

Blueprint of life
5. Current reproductive technologies and genetic
engineering have the potential to alter the path of
evolution
Identify how the following current reproduction techniques
may alter the genetic composition of a population:
-Artificial insemination
-Artificial pollination
-Cloning

Selective breeding is the deliberate crossing or mating of individuals of the same

species with the characteristics wanted; over time, these characteristics become
dominant

Technique
Artificial
insemination

Artificial
pollination

Description
Sperm from a selected
individual with desirable
traits is artificially transferred
to the female through a
process called insemination.
e.g. cattle
When pollen from a plant
with favourable
characteristics is used to
pollinate another plant

How it alters genetic composition

It removes unfavourable
characteristics, by selecting favourable
ones. This has the effect of reducing
the genetic variation in a population.

This also has the effect of humans

selecting favourable characteristics and
limiting unfavourable ones again
reducing the genetic variation in the
population
Cloning
To produce an identical
By producing cloned organisms you
organism from an already
are limiting the genetic variation in a
existing organism
population to one set of chromosomes
all the same
However, the overall genetic variation of populations seems to be reduced

Outline the processes used to produce transgenic species

and include examples of this process and reasons for its use
Transgenic organism: an organism that possesses a foreign gene in its genome.

Transgenic species are organisms which have had genetic material from a different
species transferred into their chromosomes
The introduced gene instructs the transgenic organism to produce the desired trait or
products

Blueprint of life

This trait may be passed onto future generations

Processes used to produce transgenic species:

The steps in producing a transgenic species is usually like this:

1. A useful gene, and the chromosome it is on, is identified
2. The gene is isolated or cut-out of its DNA strand
3. Separate DNA sequences for regulation may have to be added to ensure the
gene will work
4. The gene is inserted into the cell of another organism. Sometimes a vector is
used to do this.
A vector is a carrier of a substance from one species to another. e.g. bacteria
Insertion techniques include:
o Micro-injection of the DNA of a gene directly into the cell nucleus
o Transfer using a virus to carry the DNA (viral vector)
o Use of an electric pulse
o Use of a gene gun

Discuss the potential impacts of the use of reproduction

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

BT is a bacterium that naturally produces chemicals that kills many insects

The chemicals are specific to many pests and do not kill other insects
Genetically modified crops have had the gene of BT pesticide inserted into them
They produce their own BT chemicals and no longer need to be sprayed
The short term effect:
o Increase the genetic diversity of the species by altering the number of genes
The long term effect:
o Economically more productive
o May become the only crop type used, thus other types disappear- reducing
genetic diversity

Transgenic Salmon

Have had a growth gene inserted and reach maturity in a shorter period of time
The short term effect:
o Increase gene pool by increasing gene combinations
The long term effect:
o Likely to reduce genetic diversity

Blueprint of life
o The gene is likely to put the fish at an advantage since they reach sexual
maturity much earlier and attract females
They will reproduce and pass on favourable characteristics

The effect of these organisms will be very pronounced if they all came from limited
stock (thus having a limited number of genes)- or were cloned

Process information from secondary sources to describe a

methodology used in cloning

Animal cloning
First animal to be cloned was Dolly the sheep
Technique used was nuclear transfer technology
1. Adult sheep tissue removed from sheep and cultured in lab
2. Nucleus removed from one of these cells and placed in an enucleated egg cell
(egg cell with genetic information removed)
3. Gentle electric pulse causes nucleus to fuse with egg cell
4. A second electric pulse starts cell division and embryo formation
5. This new cell is implanted into a female sheep where it grows into a new
organism

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 issues:

Can disrupt the rate of gene transfer between organisms and the ways which genes are
transferred, hence disrupting evolutionary relationships
Genetically altered organisms may produce new strains of diseases or encourage
strains resistant to drugs
Crops that are resistant to pesticides may result in more pesticides being used on
them, increasing pollution/environmental concerns
Ethical or moral issues about creating transgenic animals
Return of Eugenics
Health risks associated with eating GM foods or GM drugs