GENETICS: THE CODE BROKEN?

1. THE STRUCTURE OF A GENE PROVIDES THE CODE FOR A POLYPEPTIDE

Describe the process involved in the transfer of information from DNA through RNA to the
production of a sequence of amino acids in a polypeptide:

Each gene contains a specific sequence of nucleotides > gives the instructions for
making proteins
Polypeptide synthesis occurs in 2 steps:

1) Transcription

(DNA must remain in nucleus)
DNA unwinds and unzips
One copy of DNA stand is transcribed into a single-stranded m-RNA
molecule
m-RNA takes genetic instructions from nucleus to ribosome in
cytoplasm
RNA polymerase (enzyme) gives signal for RNA strand to be copied
(instead of DNA strand) (occurs in promotor site)
m-RNA moves out of nucleus into cytoplasm

2) Translation

(Occurs at ribosomes in cytoplasm)
m-RNA lines up at ribosome, forming template to be translated into polypeptide
t-RNA anticodon match up with m-RNA codon
amino acids transported by t-RNA are linked by enzyme to form polypeptide chain
amino acids spliced off t-RNA carriers
polypeptides join and fold to form proteins
m-RNA broken down and reused

Note:
*DNA: Deoxyribonucleic acid
*m-RNA: messenger-RNA
*each set of 3 nucleotides = codon
* each codon specifies for a particular amino acid
* t-RNA: transfer RNA

Choose equipment or resources to perform a first-hand investigation to construct a model of DNA

process information from secondary data to outline the current understanding of gene expression

Gene expression: conversion of the information from the gene through transcription and translation
resulting in the phenotypic appearance of the gene.

The process
Each gene is encoded in the DNA base sequence > specifies the production of polypeptide which
becomes protein (= phenotype)
(Eg) enzymes, hormones, structural proteins in cell membranes

Note:
*Proteins control all chemical reactions = all cell activities
*Genes determine characteristics of an organism
*Genes are regulated and controlled by DNA sequences > certain genes are turned on (activated) or
turned off (inactivate) >>> eg. muscle cells only have those genes turned on that control muscle factors

2. MULTIPLE ALLELES AND POLYGENIC INHERITANCE PROVIDE FURTHER
VARIABILITY WITHIN A TRAIT

Give examples of characteristics of multiple alleles in an organism other than humans

Multiple Alleles: when 2+ alleles influence 1 trait (1 allele usually dominant to a series of recessive alleles)
Alleles: different forms of a gene that influences one characteristic

Compare the inheritance of ABO and Rhesus blood groups
Solve problems to predict the inheritance patterns of ABO blood groups and the Rhesus factor

ABO blood groups

In humans, several genetically determined blood group systems code for proteins that can be detected on
the surface of red blood cells (antigens)
3 allelic genes available: IA, IB and i
IA=IB(co dominant) > I (recessive)

The Rhesus factor

Rhesus factor: an antigen (D carried on RBCs)
D: Rh+
D: Rh-
Feature Abo inheritance Rhesus inheritance
Alleles IA, IB, i R, r
Phenotypes A, B, AB, O Rh+, Rh-
Type of heritance IA = IB (co-dom.) > i (recessive) Rh+ (R), Rh- (r)
Genotypes IAIB, IAi, IBi, ii, IAIA, IBIB RR, Rr, rr

Define what is meant by polygenic inheritance and describe one example of polygenic inheritance
in humans or another organism

Polygenic traits are a characteristic controlled by many independent genes (always bell curve)
Example: human height
Poly: many, genic: referring to genes

Process information from secondary sources to identify and describe one example of polygenic
inheritance

Tall human beings:
How tall a human is depends on factors including environment (nutrition and childhood disease)

KEY
- R: round
- r: wrinkled
- Y: yellow
- y: green
(bell curve)
The length of each section of their body is determined by separate and independent genes
Overall the height of each person is the combined effect of many separate gene systems.

<< different alleles

outline the use of highly variable genes for DNA fingerprinting of forensic samples, for paternity
testing and for determining the pedigree of animals
here

3. STUDIES OF OFFSPRING REFLECT THE INHERITANCE OF GENES ON DIFFERENT
CHROMOSOMES AND GENES ON THE SAME CHROMOSOMES

Use the terms diploid and haploid to describe somatic and gametic cells
Somatic cell: body cell. Always diploid (chromosomes present in matching homologous pairs)
Gamete cell: sex cell (haploid-half diploid number of chromosomes)

Describe outcomes of dihybrid crosses involving simple dominance using Mendels explanations
Process information from secondary sources to analyse the outcome of dihybrid crosses when both
traits are inherited independently and when they are linked
Monohybrid cross: inheritance of a single trait
Dihybrid cross: inheritance of two traits

Example: Gregor Mendel used dihybrid cross involving seed shape and colour

Step:
1. He bred pure breeding plants of round yellow seeds (RRYY) and crossed them with pure breeding
green wrinkled seeds (rryy). All F1 generation were heterozygous round and yellow (RrYy)

Parents: RRYY x rryy
Possible genotypes: RY x ry
RY RY
ry RrYy RrYy
ry RrYy RrYy
Offspring genotype: 100% RrYy

2. He then allowed the F1 generation to self-fertilise. This resulted in a 9:3:3:1 ratio
(ie. 9 round yellow: 3 wrinkled yellow: 3 round green: 1 wrinkled green) = dihybrid ratio

Parents: RrYy x RrYy
Possible genotypes: RY, Ry, rY, ry x RY, Ry, rY, ry

RY Ry rY ry
ry RrYy Rryy rrYy rryy
KEY
- T: tall
- t: short
- P: purple
- p: white
rY RrYY RrYy rrYY rrYy
Ry RRYy RRyy RrYy Rryy
RY RRYY RRYy RrYY RrYy

Offspring phenotype: 9 round yellow: 3 wrinkled yellow: 3 round green: 1 wrinkled green

Using a test cross
By crossing a heterozygous for both traits with a homozygous for both traits (eg. TtPp x ttpp) we will get
a 1: 1: 1: 1 ratio. This means that the traits are inherited independently (ie. on separate chromosomes)

Parents: TtPp x ttpp
Possible genotypes: TP, Tp, tP, tp x tp
tp
TP TtPp
Tp Ttpp
tP ttPp
tp ttpp

Predict the difference in inheritance patterns if two genes are linked
Process information from secondary sources to analyse the outcome of dihybrid crosses when both
traits are inherited independently and when they are linked

Linked genes: lie on the same chromosome (cannot be separated by meiosis) and are inherited
together.

Linkage:
- Reduces variety of offspring that can be produced
- Offspring will be identical to either parent (parental)


Example: the gene for plant height may be linked with the gene for
flower colour
(ie. TP are linked and tp are linked)

Parents: TtPp x ttpp
Possible gametes: TP, tp x tp



Offspring: TtPp and ttpp. Therefore offspring are 100%
parental with 0% recombinations

The effect of crossing over
Crossing over: when genetic material is swapped between
homologous chromosomes. This results in recombination of new
alleles
Linked genes are more likely to be recombined if they are
further apart on the chromosome

Test cross Total % Parental offspring Total % Recombinant offspring
Genes assort independently 50 50
tp
TP TtPp
tp ttpp
Genes are linked with no crossing over 100 0
Genes are linked and crossing over occurs > 50 < 50

Explain how cross-breeding experiments can identify the relative position of linked genes

Example:
In a species of plant, 3 traits are labelled P, Q and R. They were investigated for linkage using the test
cross method for each pair of traits.

Results:
Traits % Parental offspring % Recombinant offspring
P and Q 80 20
Q and R 92 8
P and R 88 12

Analysis:
Not independently inherited (not 50% parental and 50% recombinant)
Must be linked because % of recombinants is well below 50%.
P, Q and R are located on the same chromosome

Remember the % recombinant = relative distance in units between the genes, therefore
P-Q 20 units
Q-R 8 units
P-R 12 units


***Always plot the largest distance first, followed by the smaller ones

Perform a first-hand investigation to model linkage

Aim: to use a model to demonstrate the inheritance of genes with and without being linked

Materials: 20 green counters, 10 red counters, 10 blue counters and 20 orange counters, petri dishes,
sticky tape

Modelling independent genes
Method:
1. Place 10 red (representing allele A) and 10 green counters (representing allele a) into petri dish 1
2. Place 10 blue (B) and 10 orange (b) into petri dish 2 and lay next to petri dish 1 (petri 1 and 2
represent parent AaBb)
3. A few spaces away, place petri dish 3 and 4 (representing parent aabb)
4. Place 20 green (a) in petri 3
5. Place 20 orange (b) in petri 4

6. Choose one disk at random from each dish. The 4 disks represent the genotype of one offspring.
Record the result
7. Repeatedly choose 4 disks from each petri disk until all disks have been used, recording the result

Results
Phenotype Occurrence
AaBb 5
Aabb 5
aaBb 5
aabb 5

Modelling linked genes
Method:
1. Using sticky tape, join together all 10 A to all 10 B and the 30 a disks to the b disks. This will
stimulate genes linked on the same chromosome

2. Place 10 A-B pairs and 10 a-b pairs in 1 pile (representing parent AaBb)
3. Place 20 a-b pairs in another pile (representing parent aabb)

4. Choose at random a joined pair of genes from ach pile and record each offspring

Results
Genotype Occurrence
AaBb
aabb

Conclusion:
The phenotypic ratio for independently inherited genes is =
1RedBlue : 1RedOrange : 1GreenBlue : 1GreenOrange
This evidences 50% parental and 50% recombinant offspring

The phenotypic ratio for linked genes resulted in 100% parental =
1RedBlue : 1GreenOrange

Models
Advantage: clear visual representation of parental and recombinant genotypes of offspring
Disadvantage: does not take into account complexities, such as crossing over, due to complexities

Discuss the role of chromosome mapping in identifying relationships between species

Example: Chromosome mapping has been used to study organisms such as the fruit fly; as well as
relationships between organisms

Cladogram / evolutionary tree

Location of genes on chromosome


It is not practical, ethical or acceptable to carry out breeding experiments with humans:
- Practical: takes a longer time to breed humans (ie. women are pregnant approx. 10 months)
- Ethical: you cannot make people breed with another person (ie. Someone with chromosome XY
must breed with a person with chromosome xy in order to find the results wanted)
- Acceptable: these features are against the law

4. THE HUMAN GENOME PROJECT IS ATTEMPTING TO IDENTIFY THE POSITION OF
GENES ON CHROMOSOMES THROUGH WHOLE GENOME SEQUENCING

- Genome: the complete set of genes in all the chromosomes of a species
- Purpose: to map every human gene and determine the full DNA sequence
- Technologies which allowed this to be possible: the new process of Recombinant DNA Technology
and automated base sequencing equipment
- Contribution of HGH: lead to a greater understanding of genetics, human development and
physiology and human evolution.

Discuss the benefits of the Human Genome project (HGH)

Complete knowledge of the human genome could lead to identifying all genes that contribute to diseases
and disorders. This could allow:
- Improved early detection and diagnosis of disease (incl. heritable mutations)
- Identification of people who are at risk, so that preventative action can be taken
- Development of gene therapies to prevent or cure genetic disorders
- Discovery of how to turn gene expression on or off so that (for example) a person who has suffered
brain damage can be cured by causing the growth of replacement brain cells and tissues.
- More accurate assessment of the health damage and risks caused by radiation
- DNA fingerprinting to identify potential suspects whose DNA may match evidence left at crime
scenes (clear innocent suspects) and to establish paternity and other family relationships

Describe and explain the limitations of data obtained from the Human Genome Project

- Only approximately 3% of the DNA in human chromosomes codes for proteins, the remaining 97%
consists of non-coding regions (aka. junk DNA). The use of about 50% of this junk DNA is not
known.
- Some genes are found inside other genes, making their identification difficult
- It may be a long time before scientists totally understand the role of every gene, its interaction
with other genes and how DNA relates to such things as behaviour, brain function and other
aspects of neurobiology.

Legal, ethical and moral implications:
- fairness in the use of genetic information
- privacy and confidentiality (ie: the rights of large businesses, like insurance companies, to gather
data on a potential clients DNA and likelihood of disease/s)
- psychological impact and stigmatization (ie: enabling employers to discriminate based on the
person with the most suitable genes for the job rather than by traditional methods)
- education, standards and quality control
- commercialization (ie: paying to find out your DNA coding sequence)
- conceptual and philosophical implications

Process information from secondary sources to assess the reasons why the HGH could not be
achieved by studying linkage maps

Linkage maps only show the order of genes on a chromosome and their relative distance apart. The HGP
sought to find the exact positions of genes on a chromosome and therefore could not be achieved by
studying linkage maps
- HSC Online: linkage maps would have only provided information about heredity diseases for the
HGP and not for all the other many genes
- KISS Booklet: chromosome maps are very limited because it is not practical, ethical or acceptable
to carry out breeding experiments with humans
(eg. cross breeding a human with a chimpanzee to watch the development of a half-human, half-chimp.
This would mean that researchers could explore the theory that humans arose from chimpanzees
firsthand)

Outline the procedure to produce recombinant DNA

Recombinant DNA: refers to DNA molecules that have been chemically broken up, then recombined with
a new piece of DNA.

The process:



Explain how the use of recombinant DNA technology can identify the position of a gene on a
chromosome

1. Determine the code sequence for a particular gene
Known polypeptide amino acid sequence determined determine coding sequence for gene
2. A complementary strand of DNA is made. This is called a DNA probe. The probe is attached to a
tag = fluorescent dye or radioactive material.
3. DNA attaches to gene (exposed single strand of DNA)
4. Tag (fluorescent dye) can be seen when chromosomes viewed under microscope, giving us the exact
position of the gene

5. GENE THERAPY IS POSSIBLE ONCE THE GENES RESPONSIBLE FOR HARMFUL
CONDITIONS ARE IDENTIFIED

Describe current use of gene therapy for an identified disease

Gene therapy: the process by which techniques are developed to replace defective genes with normal
genes (ie: extracting healthy genes from healthy cells and inserting them into the diseased cells

Cystic Fibrosis
- gene therapy research has aimed mainly at inserting replacement, healthy genes into the lung
tissue so the normal protein will be made

process and analyse information from secondary sources to identify a current use of gene therapy
to manage a genetic disease

Cystic Fibrosis
- The faulty gene responsible for CF was discovered in 1989
- Early laboratory research showed that if a copy of the
normal gene could be introduced into abnormal cells, the
normal gene would be expressed and the abnormal cells act
normally again
- Some success has been achieved using harmless viruses as
vectors to deliver the gene into the cells

6. MECHANISMS OF GENETIC CHANGE

Distinguish between mutations of chromosomes (including rearrangements, changes in
chromosome number = trisomy, polyploidy) and mutations of genes (including base substitution,
frameshift)

Mutation: any alteration to the genetic information

Chromosomal mutations

These mutations occur as a result of non-disjunction during meiosis - when homologous pairs of
chromosomes do not separating during the first meiosis division (non-disjunction), resulting in fewer or
extra chromosomes.



Trisomy: diploids that have one extra chromosome (eg. down syndrome has 3 chromosomes instead of 2
for chromosome 21 and results in severe intellectual disability and different structural features)

Polyploidy: presence of whole extra sets of chromosomes (eg. more than 2N, such as triploid = 3N). This
is common in plants (eg. strawberries are 8N) and causes them to become more robust and produce
bigger fruits

Rearrangements
Deletion: part of a chromosome breaks off and a gene is lost (eg. Crit-du-Chat syndrome, where a
deletion occurs in a chromosome from pair 5)
Duplication: the same section of a chromosome is copied or repeated and occurs twice
Inversion: the order of the genes is reversed
Translocation: a part of one chromosome breaks off and migrates to another chromosome where
it becomes attached

Gene mutations

These mutations occur when the sequence of bases in a section of the DNA molecule is changed.

Base substitution: one base is replaced by another, such as A instead of C. This causes a change in
code for amino acids (eg. Sickle-cell anaemia)

Frameshift: an extra base is added or deleted to the DNA molecule, causing a change in the amino acid
sequence (eg. Muscular dystrophy occurs when a polypeptide is not produced as a result of stop being
coded in the middle of a polypeptide)

Example Original DNA : CAG TAG GTA
Deleted copy :
CAG TGG TA
(A has been deleted)
Original mRNA : GUC AUC CAU
Original amino acids: valine isoleucine histidine
Deleted mRNA : GUC ACC AU
Deleted amino acids :
valine threonine no amino acid
coded for.

process and analyse information from secondary sources to describe the effect of one named and
described genetic mutation on human health

Down syndrome (trisomy 21)

Causes
nondisjunction: of chromosome 21 - either the egg or the sperm have 2 copies of chromosome 21
mosaics: during mitosis in the embryo nondisjunction occurs, resulting in some cells with 47
chromosomes and some with 46 (normal number)
translocation: part or all of chromosome 21 attaches onto another chromosome (eg. chromosome
13 mixed with chromosome 21)

Effects:
external: wide-set eyes, flattened face, short flat-bridged nose
internal: spinal weakness, heart defects, intestinal defects, susceptibility to infection, mental
retardation
reduced life expectancy, significant risk of acute leukaemia, possible Alzheimers disease by 40yrs

Treatment:
physical therapy, speech therapy and occupational therapy to help develop skills and abilities
(eg. gross motor skills for walking)

outline the ability of DNA to repair itself

Copying errors fixed by repair enzymes such as DNA polymerase that can use the undamaged
strand of DNA in the double helix as a template to fix and replace the incorrect damaged base
sequence
The pathways for repair include base excision repair, repair of breaks in the DNA strand, DNA gap
filling and nucleotide excision repair (which involves recognition of damage, cutting DNA strand
and mending)
15-18 polypeptides are required for cutting and 12+ are needed for the repair step

describe the way in which transposable genetic
elements operate and discuss their impact on the
genome

The operation of transposable genetic elements (transposons)
Transposons: DNA segments that can move from one
position to another in chromosomes - jumping genes.
Retrotransposons: move RNA from one loci on a
chromosome to another

The movement is called transposition

Impact on the genome
Increase/decrease the amount of DNA in the genome, which creates new nucleotide sequences
and chromosomal rearrangement (changing the way genes are expressed)
Believed to be the cause of some cancer forms
Is a transposon is inserted into a functional gene, it will most likely stop the function of that gene
If the gap caused by the removal of a transposon is not correctly repaired, that site becomes a
mutation

distinguish between germ line and somatic mutations in terms of their effect on species

Germ-line mutations
definition: germ-line cells produce gametes. Therefore, a mutation in the germ-line cells can be
passed onto the next generation (inheritable for offspring)
effect on species: the mutation becomes part of the gene-pool of the species, affects the
population and increases the chance of evolution

Somatic mutations
definition: somatic cells are body cells. Usually occur as a result of environmental factors (eg.
radiation causing mutations = cancer). These mutations cannot be passed onto offspring
effect on species: since somatic mutations cannot be passed onto offspring, the gene-pool is not
affected

7. SELECTIVE BREEDING IS DIFFERENT TO GENE CLONING BUT BOTH PROCESSES MAY
CHANGE THE GENETIC NATURE OF SPECIES

explain, using an appropriate example from agriculture, why selective breeding has been
practiced

Selective breeding (artificial breeding): breeding animals with desirable
characteristics with other animals with the same desirable characteristics to
produce more animals with good characteristics over many generations

Example from agriculture
A new type of wheat was developed in Australia in the 1960s from
breeding wheat with rye. The plants were selectively bred to
withstand harsher environmental conditions

Why it has been practiced
To enhance of emphasise particular genetic traits
Better beef: selecting for best texture, appearance
Better milk: choosing cows which give highest yield
Better chickens: bigger eggs
Better wheat: growing wheat resistant
Better flower: choosing the biggest and most colourful

analyse and present information from secondary sources to trace the history of the selective
breeding of one species for agricultural purposes and use available evidence to describe the series
of changes that have occurred in the species as a result of this selective breeding

History of selective breeding of CATTLE
Cattle originally evolved over millions of years through natural selection (survival of the fittest)
Humans discovered how to domesticate cattle 4,000 years ago and began to selectively breed
them for specific desired traits (eg. meat and milk production)

Examples of desirable characteristics in agricultural cattle
Capable of carrying large amounts of milk and teats in right place
Heat tolerance in hot Australian climates
Darker skin pigment for hotter climates to eliminate sunburned udders, pink eye and cancer (eg.
Murray Grey was produced by corssing Angus bull and Roan Shorthorn cow)
Supreme meat (eg. carcass fat) and milk production

Result
Cattle are less fit for survival in the wild (selectively bred with shorter legs and carry more meat
than wild cattle)
There are now over 800 different breeds of cattle
Interbreeding and production of hybrids led to introduction of one species with different varieties
(eg. Bos Primigenius Taurus and Bos Primigenius Indicus)

identify data sources, choose equipment or resources, gather, process and analyse information
from secondary sources to describe the processes used in the cloning of an animal and analyse the
methodology to identify ways in which scientists could verify that the animal produced was a
clone

Process used in cloning an animal

Embryo Splitting
Embryo splitting involves bisecting the multicellular
embryo at an early stage of development to
generate twins


Nuclear Transfer Technology
Genetic material from one cell is placed into a
"recipient" unfertilized egg that has had its genetic
material removed by a process called enucleation.


Verification of clones: DNA hybridisation
1. DNA from both organisms extracted
2. Using heat, the hydrogen bonds can be broken and
the DNA separates into single strands
3. Single stands are mixed together, and if the organisms are clones, the single strands will match up
completely with no non-complementary sections

describe what is meant by gene cloning and give examples of the uses of gene cloning

Gene cloning: the production of many identical genes

Example: cloning the gene responsible for making human insulin

1. The human gene for making insulin (from human
chromosome) and a bacterial plasmid (from bacterial cells)
are cut at a specific coding sequence by a restriction enzyme
2. They are mixed together and the DNA matches (due to being
cut a specific coding sequences) and are glued together using
ligase enzyme
3. Genetically engineered plasmid is re-inserted into bacterium
cell
4. Bacteria cell reproduces asexually with each new cell
containing the human gene

Other examples:
Producing a protein that dissolves blood clots
Introducing pest resistance in some plants (eg. cotton plant is now resistant to cotton boll weevil)

distinguish between gene cloning and whole organism cloning in terms of the processes and
products

Gene cloning Whole organism cloning
Definition Producing multiple copies of a single
gene/segment of DNA (eg. BT Cotton)
Transfer of the entire DNA in a cell to the
cloned organism (eg. Dolly the sheep)
Processes Genes cut using restriction enzymes and
added (using ligase enzyme) to the genome
of another organism
Variety of techniques used, one of which is
the nuclear transfer into an evacuated cell
Products Many copies of a single gene and often the
product of that gene (eg. insulin)
A whole organism with the same genome
purpose Place a desired gene into a new species and
make many copies of it
Make a new organism identical to parent

discuss a use of cloning in animals or plants that has possible benefits to humans

By cloning, the results are identical to the donor cell

Cloning animals for agricultural purposes
Advantage: large numbers of plants or animals could be bred for: more meat or milk, finer wool,
higher crop yield and resistance to disease
Disadvantage: if a new disease arises, the organism will have reduced resistance to the disease (as
a result of reduced natural variation within the species) and this can lead to extinction

Cloning for human insulin
Advantage: the insulin can be is produced quickly/economically and used to treat diabetics
Disadvantage: production costs tend to be high

8. THE TIMING OF GENE EXPRESSION IS IMPORTANT IN THE DEVELOPMENTAL
PROCESS

identify the role of genes in embryonic development

Gene expression - process
each cell in the embryo has the complete set of genes
in the course of embryonic development, cells take on different roles (differentiation) as their
genes are selectively switched on and off (becoming specialised in their size, shape and function)

Roles of genes
Control growth, differentiation and development of organism
Code for proteins
Regulatory genes: regulate other genes and control when and where other genes get turned on
(eg. control the construction of a body part as complex as a leg or eye)

HOX (homeobox) genes
Help lay out the basic body forms of many animals, setting up the head-to-tail organisation (eg.
the layout of the head, thorax and abdomen in the fruit fly)
Many different organisms inherited homologous HOX genes from our common ancestor (eg. the
eye of insects and humans are controlled by a similar genes)

summarise the role of gene cascades determining limb formation in birds and mammals

gene cascade: process of a sequence of genes being turned on which then causes other genes to be
turned on

HOX genes start the gene cascade by producing proteins that start a chain reaction to induce the
development of body structures in the correct places in an organism
HOX 9-13 controls the limb development in birds and mammals: the gene cascade turns on the
genes for limbs in specific sections, stimulating limb buds. Within the bud, a gene cascade
stimulates the development of cells in the correct pattern of bone, muscle and tissue (limbs
develop from the base of the bud to the extremities)

describe the evidence which indicates the presence of ancestral vertebrate gene homologues in
lower animal classes

HOX (homeobox) genes: regulate the development of an organism by producing proteins that switch
other genes on and off. When the HOX genes from both the insects and the mammals were compared,
the following observations were made:
In both, the physical order of the genes along the chromosome corresponded to the spatial
(physical) order of the structure they coded for along the head to tail axis of the embryo.
The base sequences of HOX genes are similar in insects and in mammals.
If the gene was transferred from insect to mammal, or vice versa, it would do the same job.
Therefore, the gene was probably inherited from a common ancestor of both vertebrates and
invertebrates.

discuss the evidence available from current research about the evolution of genes and their actions

Hox genes are found in most of all groups of multicellular animals and show
similar DNA sequences suggesting that these genes evolved from a common
ancestor.

Sequences of bases in genes that do not change or change very slowly over time
are used to measure relationships between groups of organisms (eg. the gene for
the development of eyes is similar between mice and insects)

A mutation in a homeotic gene can cause one part of the body to develop into
another (eg. in Drosphila fruit flies, one mutation in a homologue gene can result
in legs growing on the head rather than antennae). These gene changes result
often in dramatic alterations in organisms which may then lead to the rapid
evolution of new body structures. This is evidence of the expansion of diversity of
living things and the theory of punctuated evolution

identify data sources, gather, process and analyse information from secondary sources and use
available evidence to assess the evidence that analysis of genes provides for evolutionary
relationships

Source: Excel HSC Biology

This includes:

Many homologous homeobox genes are expressed in physiologically similar structures in
vertebrates and invertebrates (eg. 3 specific homeobox genes are expressed in head, mouth and
limb sites in flies and vertebrates). These patterns show that the actions of genes controlling
position and/or timing of organ-system development evolved early and have been conserved.
Recent studies of homeobox genes have also confirmed ideas derived from palaeontology and
comparative embryology about the evolution of the head skeleton, dental system, brain and
tetrapod limb (eg. mutations have produced structures that resemble evolutionary earlier stages
of the trait)
Mamals have 38 HOX genes organized as small clusters on different chromosomes, and these share
many features of the same type of gene in fruit flies
Radiation can easily damage DNA because environmental radiation has existed on Earth for
millions of years, cells have had to evolve mechanisms for repairing damaged DNA. It is thought
that the repair process evolved early and has been conserved. The genes for repairing DNA are
remarkably similar in all organisms from yeasts through to humans
In photosynthesis, water is oxidized by a reaction centre called photosystem 2. Photosystem 2 is a
unit of protein found in chloroplasts. Years of research have shown that the structure and function
of photosystem 2 is similar in all plant species, including algae and some bacteria