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HSC Biology
Blueprint of Life
Students learn to;
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
Environment: Both the living and non living surroundings of an organism
Physical conditions: Temp, rainfall, humidity, wind speed/ direction
Chemical conditions: soil/water pH, salt/heavy metal concentrations
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 physical conditions in the environment

The Earths conditions are constantly changing. Due to these changes organisms are constantly evolving.
The following are some reasons as to why organisms have evolved:
Sea levels
Land formations (fossil evidence)
Meteorite which formed a dust cloud changed the environment (theory)
Continental drift
Volcanoes (similar effect as the meteorite)
The above reasons illustrate that organisms must have evolved according to the conditions they faced at the
time. Fossil evidence has shown many changes which indicate a change in the environment. One key
Australian example is the evolution of the Eucalypt. Australia was once covered by lush beech forest. As
Australias climate changed so to did its vegetation. The soils became drier and the rainfall dropped. This in
turn led to the evolution of the eucalypt. Therefore, it is evident that changes in the physical environment
have led to the evolution of plants and animals.
e.g. The peppered moth:
- Prior to the industrial revolution (19th century) in England, they were mainly white(black was rare)
because white moths could camouflage against the white lichen on trees and hence survive
predation.
- During the revolution woodlands were blackened with soot, so white moths couldnt hide> black
became
less visible> hence black moths reproduced and white became rare.

- changes in chemical conditions in the environment

Life has been evolving for millions of years. Early earth was an anoxic environment which meant there was
no free oxygen. The organisms during the anoxic period metabolised simple organic molecules. A product of
this was carbon dioxide. Eventually the build up of carbon dioxide led to the evolution of photosynthetic
organisms (plants) that metabolised the carbon dioxide to produce energy and oxygen. This in turn led to the
environment changing from anoxic to oxic. This in turn also meant that plants started to evolve according to
the environment as well as animals. As more and more plants evolved many more animals evolved due to
the food chain.

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Other reasons as to how plants/animals evolve:

DDT
Antibiotics
e.g Mosquitoes and DDT (insecticide):
- when it was first used to kill malarial mosquitoes, low concentrations were effective
- Over time higher concentrations were needed and the process was less effective
- This is because resistant mosquitoes survived, reproduced and passed on favourable genes so now
population in mainly resistant (gene pool has changed)

- competition for resources

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

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)

Specialise on slightly different resources to avoid direct competition

Competition for resources usually results in the extinction of a species or a species occupying another niche.
There have been many cases whereby competition for resources has led to the evolution of another species.
One Australian example is the flycatcher. Due to this species having the same diet there has been
diversification of the species. A whole new species has evolved to occupy a different niche. Introduced
species in Australia (foxes, rabbits, goats) means there is competition with native species for
resources> some are now extinct and others have changed their locations (distribution areas have
changed)
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:

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

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- Palaeontology: the study of fossils and all aspects of distinct life

It provides Evidence for change
fossils in undisturbed sedimentary rock formations have shown similar sequence, supporting the idea that
living things arose in a certain order.
Fossils are formed under strict circumstances and include such traces as bones, teeth, footprints and
faeces.
Firstly fossils can be compared structurally. This can lead to evolutionary relationships and explain an
evolutionary pathway.
Secondly through carbon dating fossils can be dated as to when they formed/existed. Knowing how old a
fossil can determine evolutionary relationships.
Thirdly knowing the type of rock the fossil formed in can indicate the time the fossil was formed. Comparing
this fossil to another fossil found in the same rock helps scientists make comparisons between the two
fossils.
Transitional form is an organism (usually fossils) that possess features of two major groups of organisms.
Fourthly transitional fossils support the theory of evolution.
Archaeopteryx
o

Small flying dinosaur with feathers

Appears in late Jurassic

Shares features with birds and reptiles, suggesting that birds evolved from these reptiles

REPTILE features: long-tail, claws, no keel, solid bones, teeth

BIRD features: wishbone, feathers

- biogeography
.

(study of the geographical distribution of species, both present day and extinct)

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

The embryos of the fish, salamander, tortoise, chicken, pig, rabbit and human are all very similar in
embryonic stage. These organisms then evolve with each structure having a different specialised function,
supporting the theory of evolution.

- comparative anatomy

The study of similarities in body structure

Despite the fact that modern day vertebrates have many differences

Comparative anatomy supports the theory of evolution in a number of ways. It is evident that the fore limb
also known as the pentadactyl limb supports the theory of evolution. The limb has a similar structure in many

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organisms; however the organism has evolved to use that limb for a specialised function such as swimming
or flying.

- Biochemistry

Study of living cells, tissues, organisms and organs

If organisms are related by evolution, they should show similarities in their molecular composition

Biochemistry supports the theory of evolution including evolutionary relationships and evolutionary pathways.
Virtually all organisms use cytochrome C, a protein, for energy. Through studies of this protein scientists
can compare the similarity between organisms. A change in DNA leads to a different amino acid sequence
which in turn produces a different organism. The study of biochemistry therefore supports the theory of
evolution.

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

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

14 different species were described that occupy a variety of niches

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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

convergent evolution- Australia v Nth America

2. Gregor Mendels experiments helped advance our knowledge of the inheritance of characteristics
Outline the experiments carried out by Gregor Mendel
Mendel:

Mid 19th century

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

The first generation of offspring all looked like the dominant characteristic (Smooth seeds)

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

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One factor is dominant over the other, they dont blend

The recessive factor is masked by the dominant, and only appears rarely

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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
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

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

In other words- he DE-SEXED half of the plants

describe outcomes of monohybrid crosses involving simple dominance using Mendels

explanation
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)

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F1 Cross- Offspring interbred

F2- (second generation)

Example:

F0

Tall

Short

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)

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.

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The individual is purebred for that characteristic.

e.g. TT or tt

Heterozygous
o

When the alleles are different

The individual carrying the genes is a hybrid

e.g. Tt
HOMOZYGOUS

Homozygous genotypes are pure bred for

that specific characteristic.
Homozygous alleles are either both
dominant and recessive.
Dominant homozygous alleles are always
expressed as capital letters. e.g. AA.
Recessive homozygous alleles are always
expressed as lower case letters. E.G. aa.
The letters used to illustrate the specific
characteristic are known as the genotypes.

HETEROZYGOUS

Heterozygous genotypes contain different

alleles that express different characteristics.
Heterozygous alleles always contain a
dominant gene and a recessive gene.
Heterozygous alleles are always expressed
as a capital and then a lower case letter.
e.g. Aa.
The letters used to illustrate the specific
characteristic are known as the genotype

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
ALLELE

Alleles are pairs of genes situated in the

same location on a homologous pair of
chromosomes.
Alleles contain information for the same
characteristic but not necessarily the same
information. For example, the allele will be
for hair colour. One allele could specify for
brown hair while the other allele could
specify for blonde hair.

GENE

Genes are found on all chromosomes.

Each gene can be represented as a band on
a chromosome.
In a double stranded chromosome each
gene is represented twice as indicated
below.
Genes code for certain characteristics. For
example certain genes according to their
chemical make up code for hair colour or eye
colour.

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ALLELES

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GENES

explain the relationship between dominant and recessive alleles and phenotypes 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

They are always present in pairs in body cells

In simple genetics, alleles carry either DOMINANT or RECESSIVE characteristics

Dominant: A gene that is expressed; masks the recessive gene

o

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

Doesnt skip any generations

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.

We represent its genotype with two letters, with each letter representing a gene

T dominant, tall allele

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

NEVER skips a generation

Individuals with one dominant allele will show the characteristic

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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)

Can skip a generation

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

Radically different ideas to previous concepts

No knowledge of chromosomes and genes at that time significance was probably not
realised at the time

He was a monk and had no reputation as a scientist

Was a shy man would not have pushed his ideas

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

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

Thus proved that the nucleus contains genetic material

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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

there may be several thousand on one chromosome

3 nucleotides triplet, that code for a AA sequence (changes according to the nucleotide
sequence)

The sequence forms a protein

Genes are made up of proteins

DNA is made up of:

o

Carbon

Hydrogen

Oxygen

Nitrogen

Phosphate

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

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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)

Sugar (never change)

Nitrogenous base

Adenine

Thymine

Guanine

Cytosine

Adenine pairs with Thymine (A-T)

Guanine pairs with Cytosine (G-C)

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
Chromosomes behave in certain ways during meiosis so that the inheritance of genes is a possibility. Firstly
in meiosis the chromosomes line up in homologous pairs on the equator of the cell. Each of these

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chromosomes contain many genes. Genes are the building blocks of inheritance; they contain information for
specific characteristics such as hair colour. As the chromosomes split up and sorted they move to different
daughter cells. These daughter cells divide again to produce four new cells.
During the production of these daughter cells crossing over occurs. Crossing over is the process whereby
chromosomes swap genetic information which in turn causes variation from daughter cell to daughter cell.
Crossing over does not occur every time the chromosomes line up on the equator of the cell. The closer the
chromosomes are in characteristic the less likely crossing over is going to occur the further apart they are in
characteristics the more likely crossing over will occur.
Therefore, during meiosis chromosomes act in a certain behaviour this causes a variation of inheritance in all
daughter cells.
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

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

Pair with homologous pairs

4. Anaphase

Move to the poles

5. Telophase

Two new nuclear membranes form

6. Cytokinesis

Splitting

1. Single stranded homologous chromosomes duplicate

2. The single stranded chromosomes become double stranded, linked at the centre by a
centromere
3. In the first meiotic division, the homologous chromosomes separate and genes are sorted,
but the double-strands of the chromosomes are still joined
4. In the second division, the chromatids of the chromosomes separate and from 4 new
gametes altogether

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5. 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

i.e. during prophase

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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)

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.

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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

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

Random fertilisation:

When the male and female mate, the two different gametes randomly fuse

Many different combinations are possible, which causes 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 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

The alleles are shown as superscripts on the X and Y chromosomes

e.g.

XRXR for a normal female

XRXr for a carrier female

XrXr for a colour blind female

XRY for a normal male

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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

Xc

XC

XCXc

XCY

XC

XCXc

XCY

All female offspring are carriers

All males are normal

Carrier female with a normal male

XC

XC

XCXC

XCY

Xc

XCXc

XcY

of the daughters are normal

of the daughters are carriers

of the males are normal

of the males are colour blind

Carrier female with a colour blind male

Xc

XC

XCXc

XCY

Xc

XcXc

XcY

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of the daughters are carriers

of the daughters are colour blind

of the males are normal

of the males are colour blind

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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 blood-clotting

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 codominant

Refers to inheritance when both alleles in a heterozygous organism are dominant.

Both alleles are fully expressed

e.g. Roan cattle-

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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

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

In simple dominance cases,

o

If an organism is homozygous dominant, the phenotype is that of the

dominant allele

If it was homozygous recessive, the phenotype would be that of the recessive allele

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,

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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

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.

A lack of sufficient resources can stunt the growth of a person

People become more tanned with more exposure to sunlight

e.g. Hydrangeas
o

The flowers colour is controlled by pigments known as anthocyanins

They are affected by pH

If the Hydrangeas are growing in acidic environments, the flower is bright red

In alkaline environments, the flowers are blue

4. The structure if 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 is unique in the sense that it is the building blocks of all life forms but it is also capable of replicating
itself exactly. This is possible because of the double helix structure being able to unwind. The process of
DNA replication or copying takes place in meiosis and mitosis.
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

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outline using a simple model, the process by which DNA controls the production of polypeptides
DNA controls the production of polypeptides in a process known as protein synthesis. This involves the
following steps:
DNA holds the information for creating proteins in cells

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)

The information contained in DNA is transcribed into mRNA from a template strand on the
DNA

A set of three nucleotides (Bases) on the mRNA is the codon (triplet code) for one particular
amino acid

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

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

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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

The enzyme, moves along the strand, attaching loose RNA nucleotides to the DNA, with A-U and CG, 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. DNA-

AGG

CTG

ACC

TGA

GGT

CCG

mRNA- UCC

GAC

UGG

ACU

CCA

GGC

AUA

TAT

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. mRNAtRNAAmino acid-

UCC

GAC

UGG

ACU

CCA

GGC

AUA

AGG

CUG

ACC

UGA

GGT

CCG

UAU

pro

asp

trp

thr

pro

gly

ile

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explain the relationship between proteins and polypeptides

o

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

In some cases, the mutation is not advantageous or lethal to the organism. It is a neutral
mutation

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

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

o

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

Can cause bases to be deleted, or totally removed from the strand

Can cause Thymine bases to link together

This causes a disruption in the normal functions of DNA

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o

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High energy radiation levels can actually break up the whole chromosome

Discuss 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

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

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

Crossing over of genetic material during meiosis

Random fertilisation of sex cells

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

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

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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
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

Description

How it alters genetic composition

Artificial insemination

Sperm from a selected individual

with desirable traits is artificially
transferred to the female through
a process called insemination.
e.g. cattle

It removes unfavourable characteristics, by

selecting favourable ones. This has the
effect of reducing the genetic variation in a
population.

Artificial pollination

When pollen from a plant with

favourable characteristics is
used to pollinate another plant

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 organism By producing cloned organisms you are

from an already existing
limiting the genetic variation in a population
organism
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

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

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o

Transfer using a virus to carry the DNA (viral vector)

Use of an electric pulse

Use of a gene gun

HS

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
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

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

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