Genes and Diseases

11/10/2014

MENDELIAN GENETICS

Garden pea plants, that were to help with development of

Inheritance.
Mathematics traits, 2 alleles of a gene segregate during gamete
formation.
Law of independent assortment states that alleles for each gene
segregate independently of alleles for other genes.
The laws of probability govern mendelian inheritance
Inheritance patterns may be more complex than simple mendelian
genetics
Many human traits and conditions follow mendelian patterns.
Interested in heredity (dfn: phys or mental characteristics
genetically from one to another generation)
Blending inheritance
Inheritance
Genetic Testing : garden peas, model organism.
Easy and fast to grow, look at many generation
Control fertilization
Able to control, chop of pollen and then feed other plants with said
pollen.
Cross pollination
7 traits
shape

colour
pod shape and colour
flower colour
flower and pot position
stem length
o Didnt look at characters that had 3 or more. Only looked
at 2 ~ phenotype
o Worked with pure breeding, true breeding, when the cell
reproduces it produces IDENTICAL offspring
o Looked at short and tall breeding.
o Looked at seed shape, round vs wrinkle. = P generation or
(parent gen) then the next was F1 gen (first felian
generation) then F2

When he crossed seeds, (round vs wrinkle) looked to see the

character (trait) that was expressed in F1 generation. Found in
F1 generation that all F1 offspring produced round seeds, no
wrinkle.
When he pollinated F1 with F1 = wrinkle. (3:1)
This contradicted hypothesis.
Therefore Dominant and Recessive traits were born!
In the F1 gen, recessive trait disappeared. Whereas when F2
generation were cross bread, it was that (3:1)
When proposed at time, each person has 2 versions of a character of each
trait.
Diploid, 2 copies of a particular of an Allele. (pair of homologous
chromosomes (us)) can only be 2 different versions.
Allele found in individual = genotype. (genes)
How genes are expressed. ^^
Use a letter to represent gene. R = dominant r = recessive
A diploid gene will have 2 different alleles

Homozygous, are those with same (mendelian) produced (hetero with

cross pollination)
Heterozygous are those with different
Pure breeding individuals, will only produce offspring with phenotype
When cross with F1 -2= characteristic result of offspring. Ratio of
genotype in a phenotype (1:2:1)
From these experiments = Law of Segregation:
There are 2 alleles for a character or trait and they separate to
gametes
During meiosis: alleles segregate
PUNNET SQUARE
Predict types of offspring you would expect from a cross breeding.
Law of segregation:
2 alleles per cell for a particular trait separate independently into
gametes
Law of independent assortment:
How different genes independently separate from one another
when productive cells develop
Separation of pairs of alleles for each gene is independent of
other genes.
o Note that not all genes obey this rule
o Linked genes tend to be inherited together

Using a testcross for unknown genotype 1 trait

Plant with seed, with plant with homozygous recessive.
Seed colour
Yellow seeded plant, with green seeded plant.
When dont know, always cross with homozygous recessive
Can also do a testcross with 2 traits
Not only seed colour, but seed traits. Looking for colour with pure
breeding
Terminology
Genes: Mendels hereditary factors; segment of DNA specifying
RNA or polypeptide
Alleles: alternate forms of a gene, normal wild type
o NB: while we can only have 2 alleles for each gene in a
diploid cell, there may be many possible alleles for a gene,
called multiple allelism.
Genotype: genetic constitution
Phenotype: characteristics that result from genotype and
environment
o Identical twins: same genes, therefore different phenotype
from environment
Locus: position of gene on chromosome.
Always put dominant allele above recessive allele.
The multiplication rule: 2 or more independent events that happen
together (A and B)
Probability: Toss 2 coins and get 2 heads x =
The addition rude: probability of any one or two or more exclusive
events will occur (A or B) is calculated by adding together their individual
probabilities
Toss 2 coins and get 2 heads or 2 tails= + =

Recessive traits example:

AaBBcc x AaBbCc

CHROMOSOMAL BASIS OF INHERITANCE

Key Concepts
Meiosis, segregation
Genes on the sex chromosome (X and Y)
Sex linked genes (unique patterns)
Linkage genes of same chromosome
Alterations in chromosomes number and stricter
1800 (late) Mitosis and Meiosis were discovered.
How do we know that genes exist on Chromosomes?
Due to Thomas Hunt Morgans experiments with Drosophila (fruit
flies), the link b/w chromosomes and inherited traits was made.
They produce many offspring
A generation can be bred every 2 weeks
Have only 4 pairs of chromosomes
Noticed wild type (normal) had red eyes

and some that were mutant (white eyes)

In one, mated mutant types with normal type
o F1 gen had red eyes
o Whereas F2 gen 3:1 red:white, but only males had white
eyes.
Therefore eye colour depends on Y (sperm) chromosome.
Regions pair up, X and Y pan in similar (homologous
chromosome in a fashion) in Metaphase
The human chromosome is made up of many genes
Y chromosome is male SRY (code for male features)
Grasshoppers, Butterfly use the X O system, females have 22
autosomes XX whereas males have 22 chromosomes O
Chromosomal Basis of Sex, Sex linked, X chromosome or Sex
linkage
Extra chromosome (not good)
Double the amount of protein product in X product, one X
chromosome is deleted from each X chromosome. This is called the Barr
body. Happens early on in embryonic development
If a female has a condition trait, she would be a mosaic character.
The other X chromosome would be activated.
Eg: tortoiseshell cats (coat colour is on the X chromosome)
Linked Genes:
Genes on the same chromosome, are called linked genes (nothing
to do with sex linkage)
The alleles in linked genes tend to be inherited together.
Violated assortment
Independent assortment (diagram)
4x of gametes (1/4)

Dihybrid: independent of other gene

Different rules apply for linked genes: alleles cannot separate,
therefore they are inherited together.
How linkage affects inheritance?
Body colour can be inherited with wing size.
Not always the same in every situation.
Non-parental phenotypes
We have similar traits, but are unable to be there due to
evolution.
Pure breeding. Normal winged, with flat visidual wings.
Double heterozygote
Test crossed with a double mutant, = F1 di hybrid = (1:1:1:1)
If genes are on separate chromosome.
Crossing over still occurs, alleles in crossing over.
Recombination occurs
Only small region for crossing over to occur (1+2). Much greater
likelihood to happen in exchange (1 +3)
% of recombinant offspring, created a linkage map. Distances
between genes are called the Centimorgan (cM) = 1% recombinant
frequency
Definitions:
Aneuploidy: Deviation from the usual chromosome number
o Usually result from fertilization of gametes in which nondisjunction occurred.
o Offspring with this condition have an abnormal number of
chromosomes

Polyploidy: more than 2 complete chromosome sets eg: triploidy

(3n) tetraploidy (4n)
Polysomy: more than 2 of a particular chromosome in diploid
cells
Monosomy: only one copy of a particular chromosome in diploid
cells (generic)
Trisomy: three copies of a particular chromosome in diploid cells.
(generic)
Down Syndrome (Trisomy 21)
Down Syndrome is an aneuploidy condition that results from the
3 copies of chromosome 21
Karyotype 47, XX, +21 or 47, XY, +21
It affects about 1/650 children AUS
Human Oocytes are held in prophase 1 from birth to ovulation
Complications: all of have mental retardation, early Alzheimers,
problems with hearing, growth issue, higher incidences of leukemia,
males tend to be infertile.
Aneuploidy of sex chromosome
Klinefelters Syndrome: is result of an extra chromosome in a male,
producing XXY individuals, 1/1000 males, karyotype 47
Some female characteristics
Fail to produce normal amounts of testosterone
Monsomy X, called Turner syndrome. Produces XO females, who are
usually sterile and need hormone treatment for sex organs to mature
It is the only known visible monosomy in humans,
Karyotype 45, XO
Also have alterations in chromosome structure (can break, swap
over etc)
Deletion: removes a chromosomal segment
Duplication: repeats a segment

Inversion: reverse a segment within a chromosome

Translocation: moves a segment form one chromosome to a nonhomologous chromosome.
One condition that results in a missing or deleted part of a
chromosome is called Cri du chat (cry of the cat) deleted vocal chord
Deletion of the P arm in chromosome 5 (5p-)
Child is born with this syndrome mentally retarded and has a
catlike cry
Can be due to translocation C5 -> C13 in parent. Offspring
inherits Ch5 with de. P arm
Disorders caused by structurally altered chromosome.
Certain Cancers: chronic myelogenous leukemia (CML), are
caused by translocations of chromosomes, karyotype 46 t(9.22)
Smaller than usual 22
Called Philadelphia chromosome
Causes cancers
Other gene not expressed or highly expressed can cause cancer,
and cause cell to divide rapidly.
The cells are the stem cells.
Many more of myeloid stem cells
So many of them are produced that basically less blood cells are
produced, less platelets (anemia, bleeding problems),
granulocytes (problem)
Some down syndrome can be inherited 14/21
How can trisomy 21 occur?

 MOLECULAR BASIS OF INHERITANCE

Who discovered DNA?
Fredrich Miescher, isolated nucleic acid from WBC nucleic.
2 potential proteins, for material of inheritance, using pea plants,
drosophila etc.
Discovered from Bacteria
Frederick Griffith 1928 ~ discovery of the genetic role of DNA
began.
Worked with 2 strains of bacterium, pathogenic and one
harmless.
Strep and cocclic
Non-patho patho were used in transformation defined as a
change in genotype and phenotype due to assimilation of foreign
DNA
S cells: Smooth (killed mouse)
R cells: Rough (Healthy cells)
Something within cells was transformed substance of DNA
Worked on, similar, harmless bacteria to pathogenic bacteria.
Heat (kills S cells) adds Heat cells to R (kills R cells) Swap over
as vv.
Evidence that viral DNA can program cells:
Virus that infect bacteria
Such viruses, called bacteriophages (or phages), are widely used
in molecular genetics research.
Bacteria phase are great for taking a bacterial cell into dna

 How to get a protein to a bacterial cell? Transcribed later into

protein.
Inheritance: Alfred Hershey and Martha Chase: Escherichia
coli.
T2 infection
Protein capsid, new virus is made infection over and bye bye
Capsid stays outside the wall
Grew the viruses in presence of 2 radioactive isotopes, in 32P or
35S DNA
Infected the ecoli cells with either/or
If DNA then the radioactive DNA would be inside the cell
And the protein located outside the cell if it were transforming
factor.
And opposite if the other were used.
Erwin Chargoff: 1950: DNA is a material of inheritance
Still all gatc, different amounts of a and ts and g and cs
This became Chargaffs rules
No of A and Ts are equal
And no: of G and Cs
Soon after James Watson and Francis Crick published one page
paper in Nature
Structure of DNA: of Crystallography to study molecular
structure
X ray crystallography = raised light to give structure of
molecules.
Able to deduce that DNA is a double helix
Backbone that is sugar phosphate backbone
And width etc

 Then they build the model

At The Gold Coast
The primary structure of DNA has 2 major components:
A backbone made up of the sugar and phosphate groups of a
deoxyribonuleotides.
A series of nitrogen-containing bases that project from the
backbone
DNA has directionality
One end has an exposed hydroxyl group on the 3 carbon of
deoxyribose, and the other end has an exposed phosphate group
on a 5 carbon
The molecule thus has a 3 end and a 5 end
The strands line up in antiparallel strand creating a double helix
And there are hydrogen bonds 2 b/w A and T and G and C
3 ideas (hyp) of how new strands and pairings
Conservative replication: parent molecule is turning into a
complete parent and continuing to daughter
Semicoservative : daughter molecule = one old strand an one
new strand, and second strand, 2 made up of old and new, and 2
totally new.
Dispersive: Model, the first replication causes the daughter cells
to be old and new and the second is the same.

Meselson and Stahl: designed experiment to test hyp.

Grew E.Coli in heavy nitrogen (15N)
Moved from heavy N to Normal N
To see how gen of replication, how much the heavy vs normal in
DNA

 They were interested in DENSITY of molecules

Helicase: unwinds the helix
Single stranded DNA binding proteins (SSBPs) help strands stay
together
Elastic bad analogy: Twist plastic band, and get to middle and open
it up, at either end they begin to twist, which is what happens to DNA
Topoisomerase helps to keep DNA from coiling
DNA polymerase 3 requires a primer which consists of a few
nucleotides bonded to the template strand, b/c it provides a free 3
hydroxyl (OH) group that can combine with an incoming dNTP form a
phosphodiester bond
The enzymes product is called the leading strand or continuous
strand
PROTEIN SYNTHESIS
Key concepts:
Gene expression is the synthesis of proteins from gene
sequences
Genes specify proteins via the processes of transcription (from
RNA molecule) translation (DNA)
Eukaryotes modify RNA after transcription
Translation is the RNA directed synthesis of a DNA
See linking of more of a story, know what DNA is, what inheritance.
How cells divide, how genes are the recipe book for life.
Proteins are made with different cells and different tissues.
While we have same genome (except repro) cells are different, b/c
of differential gene expression (some turned on and some turned off)

Gene expression (turning on gene and producing protein), and

protein synthesis
Sequences of genotype (different alleles)
Transcribed to mRNA -> messenger RNA (to write)
DNA -> RNA (amino acid) -> translated (protein)
DNA: gene expression
2 processors involved, transcription and translation
RNA is used as a template
Messenger
Ribosomes: rough ER
Genes specify proteins via transcription and translation:
Relationship : Physician Archibald Garrod, first suggested that
inherited diseases, were caused from defect in enzyme.
Thought that there had to be some kind of anbolyic reaction
o Metabolic pathway
George Beadle and Edward Tatum: experiments, bread mold, ->
X-ray, to make mutant Bread moulds. Couldnt survive on
minimal media (medium that contains glucose (energy) nitrogen
(proteins) electrolytes) they could produce anything else.
They were all arginine (amino acid) deficient, they could produce
own.
Hyp: of one gene one enzyme
Cells on left hand side that could grow in minimal median
The products of a gene expression:
Some proteins arent enzymes,
Central Dogma,
DNA codes for RNA which codes for Protein

DNA -> RNA -> Protein

Genotype, determines the proteins we produce
All RNA arent all mRNAs and are not translated into protein
o Eg: tRNAs and rRNAs
Some viruses can be reversed. Herpes
When the infect someone, their genes can be inserted into host
genome.
Enzyme reverse transcriptase
DNA structure: revision
DNA is long chain (antiparallel) 3 prime end = 3 prime carbon on
sugar, hydroxyl end
5 prime end = 5 hydroxl
AT have 2 hydrogen bond
GCs have 3 hydrogen bonds
RNA structure:
RNA is a similar has 3 main differences
RNA contains ribose sugar; DNA contains deoxyribose sugar
RNA contains the pyrimidine uracil (U) instead of thymine (U
pairs with A)
RNA is considered to be single stranded, whereas DNA is double
stranded (there are some RNA that have a fold in a double
stranded way)
During transcription, a DNA strand provides a template for the
synthesis of a complentary.
mRNA
Messenger RNA (mRNA) takes the message from the
chromosome to ribosome using the DNA template

3 nucleotides form one codon specifying one amino acid (start or

stop)
mRNA has 5 to 3 polarity or direction
Other RNA = ribosomal RNA
rRNA
Binds mRNA and tRNA on the ribosomes
rRNA consists of 2 parts that function together and small subunit
Ribosomes:
Have 3 binding sites:
P site
A site
E site
tRNA: has an anticodon (white) and is complimentary to codon in
red
Not all proteins arent enzymes: they revised to 1 gene 1 protein.
Hemoglobin (each polypeptide has own gene)
Beadle and Tatums hyp:
tRNA
The mRNA message is translated into protein with the help of
transfer RNA (tRNA)
From amino acid, to ribosome anticodon

 Molecules of tRNA are not identical

Carries a specific amino acid on one end
Why cant proteins ben translated directly from DNA?
DNA = well protected
Can have an RNA transcribed and make lots of proteins
Dont want this happening at DNA level
Each RNA transcript can be translated repeatedly
Transcription:
Where DNA is used as template to form complementary mRNA
RNA synthesis is catalyzed by RNA polymerase, which unwinds
the DNA and adds the RNA nucleotides
Similarities to DNA synthesis (DNA copy so cell can replicate)
Genes producing their proteins
DNA unwound (RNA polymerase) polymer of RNA not DNA
Transcribes one template strand, makes one RNA molecule
Often called the coding strand, is almost identical to other coding
strand, however (T is changed with U)
Bacteria have a single type of RNA
o Eukaryotes have 3 RNA
o RNA polymerase 2 is used for mRNA
o Like the DNA polymerase performs a template-directed
synthesis
How does it know where to start, due to specific sequence called
promoters (like switcher with flag)
RNA polymerase is quite complex molecule, made up of a core
enzyme, also made up of a sigma subunit.

o Work with RNA polymerase

o Turn on
o Certain things are activated
Bacterial promoters: are called a (-10) box and a (-35) box.
Eukaryotes: a bit more complex, dont have the similar boxes
like Prokaryotes
TATA box (centered about 30 base pairs)
Eukaryotes also have transcription factors are called basal
transcription, because they turn genes on
However there are some that Promoter that are more complex.
Prokaryotes have no nucleus segregating transcription from
translation and can transcribe and translate the same gene
simultaneously. The new protein quickly diffuses to its operating
site.
Intervening regions: Introns
Exons: are coding regions for final mRNA
Splicing: intervening sequences.
Primary immature RNA, 1 intron, 1 exon
Nerves come together to make up spliceosome
(eukaryotes only)
Primary RNA transcripts are also processed by the addition of a 5
cap and a poly(A) tail
The 5cap serves as a recognition signal for the translation
machinery
Poly(A) tail extends the life of an mRNA by protecting it from
degradation
-> In eukaryotes, you can have polyribosomes, to translate.

Translation:
Translating that message, from DNA to mRNA (amino acids)
Language called genetic code language of the 4 bases and then
the language of amino acids.
From bacteria, to universal
There are 20 amino acids (but only 4 in DNA()
How it is read, in triplet code called a codon, non overlapping,
and contain no gaps. In the coding region.
Eg: amino acids, back to mRNA, ggcc etc and the uca is read as
serine.
During translation, the mRNA base in triplets
Must be correct reading frame. (correct groupings)
Correct amino acids are produced for that gene.
There are also codes for start and Stop
Wobble:
The genetic code is redundant, but not ambiguous redundancy
is to do with the same amino acid, being coded by the same aa.
Not ambiguous, every single codon only codes for one amino
acid.
Genetic Code:
o Nearly universal, shared by the simplest bacteria to the
most complex animals
o Transcribed and translated after being transplanted from
one species to another
mRNA: directs amino acids sequence
tRNA: carries correct amino acid
rRNA + proteins = RIBOSOMES which have large and small
subunits, E, P and A sites
E: tRNAs no longer bound to an amino acid exit the ribosome

P: Pepetide bond forms that adds an amino acid peptidyl

transferase using ATP and GTP. Made up of a chain of amino acid
in a peptide bond.
A: Accepter site for aminoacyl (AATS) tRNA

UCA: specifies Serine

Ribosome: large and small subunit, small sites for tRNA,
A site, tRNA is carrying an amino acid

o Initiation (1)
mRNA binds to a small ribosomal subunit, charged
tRNA (carrying methionine) attaches to the start
codon at the P site on the small subunit
Large site happens.
o Peptide bond (2)
Following on from last, Initiation complex, tRNA
carrying in P site, E site is empty
A new tRNA comes along and bonds to acceptor site
Complimentary to start site.
#2 a peptide bond forms between thyamine and
amino
#3 translocation (mRNA) moves along by one codon
o Termination (3)
o When everything stops, comes along and breaks
everything apart.
Translation, energy requirements:
4 P (phosphate) bonds are needed for the formation of one peptide
bond:
2 P bonds during formation of aminoacyl tRNA

2P bonds from GTP during binding of aminoacyl

extra GTP for initiation complex termination
Translation Base- Pairing
mRNA tRNA ((codon anticodon)
mRNA and small ribosomal subunit
tRNAs and ribosomal subunits at A and P sites
Proteins can be modified, by cell.
Sometimes they may be induced in an inactive state, then
activated.
Folding is involved
And often addition and removal of molecule can play a role.
Summary of Eukaryote:
DNA to Protein
Starting in nucleus
DNA double helix
Translated (gene turned on, RNA polymerase)
RNA polymerase catagorises symphases
Interons are removed
A capa is added
Move out through nuclear pores
tRNAs come along

And produce a polypeptide

AATS (charging tRNAs)
Amino acid around cytoplasm

Types of mutation:

2 main types of mutations caused by small changes in the DNA

sequence.
Substitution: one base is substituted for another
o One base replaced with another base
o Silent mutations- because of fact of 3rd base, in an amino
acid, there are 4x bases. There isnt going to be much
difference.
o Missense mutation: when it codes for a different amino
acid. Might behave differently
o Nonsense mutations: an amino acid is changed from a stop
codon. Not always function
Exam: sickle cell disease (anaemia) has a specific
mutation for the 6th codon. Individual without
mutation.
Substitute (instead of ctc, cac). Causes the
haemoglobin molecule, made up of polypeptide to
fold differently. B/c it is important to RBC due to
carrying of oxygen, molecule isnt working well.
Therefore causes the cell to have a sickled shape.
Insertion or deletion can cause a frame shift
mutation: way sequence is read. Read in 3 bases.
Change way sequence is read.
o
Inerstion or Deletion of bases (indel)

GENE EXPRESSION AND REGULATION

Key Concepts:

Differential gene expression leads to different cell types in

multicellular organisms
Development in multicellular organisims results from cell devision,
cell differentiation and morphogenesis (cell can become a liver cell.
Bicoid: Drosophila in embryonic development. Model organisms
In regard to humans, all organisms in Eukaryote organisms
share similar genes.
Homeotic genes are master regulatory genes with homology in
most organisms, how if women are pregnant rectanyl acid (vitamin a) =
toxic due to expression pattern in homeotic genes.
Share across all organisms
Teratogens, agents that cause birth defects, things that have
happened in past and recommendations.
What happens in Embryonic development
Not much difference in cells
During development, morphogenesis happens, creates embryo with
tail etc
Cells, organize themselves to this form.
How this happens, a cascade in fully formed embryo that forms at
birth
Fertilization, cleavage, cell division etc
Cell differentiation: cells are specialized in structure and function
Morphogenisis = shape in organsism
Differential gene expression results from genes bein regulated
differently in each cell type
A cytoplasm of egg contains molecules in RNA proteins, called
cytoplasmic determinants (determining what genes are going to be turned
on or off depending on concentration)
They are placed in the egg, during egg production
They are not zygotic, they occur from mother

 Another that is involved, are not evenly distributed

As cells begin to divide, the signal to each other. To get
differences to happen.
This is called induction
What happens???
o Sperm: very little cytoplasm. Egg has large amounts of
cytoplasm and different molecules, round and triangle (not
evenly distributed)
o Sperm Meets Egg: zygote, begins to turn on genes
o At division: each of 2 cells are different
o First division: Early embryo (32 cells) signal to cells
above, in particular cells for different genes to be turned
on.
Before cells become differentiated, they become determined. (May
not look like a differentiated cell type)
Early cells, that are determed however not differentiated
A pre curser skeletal muscle cells (cell type: CT) When they were
a embryonic cell (before specialized) have potential to become
an other cell type.
A nearby cell will signal, a cell type, to turn on a master regulatory
gene will (once turned on) will produce a protein= transcription factor
(control to turn on)
One particular is MyoD (gene) involved in pre-cursor cells, that has
the potential to turn into skeletal muscle. (transcription factor)
Depending of position: depends on signaling.
Morphogenesis: Pattern of form (drosophila) body plan.
Drosophila, has head to tail (axis)
Development from egg to lava: very early egg develop (follicle
cells and nurse cells [early mRNA and proteins] creating
differences during division)
Egg shell, eggs layed
Embryonic development
Embryo is segmented (morphogenesis has happened)

 NB: lava, has a noticeable head and tail.

Gene expression:
Process in development
Maternal determinants: maternal effect genes (maternal mRNAs)
Zygotic genes. Nomes of zygote
Cytoplasmic determinants are in a maternal effect genes
Establishing the basic stricter = head tail called egg polarity
genes or coordinate genes
Zygotic genes: turned on by maternal effect genes, once
fertilization occurs, proteins bind to genes of zygote.
Maternal effect genes:
Bicoid: is maternal effect gene, translated after fertilization;
allows first part of polarity to occur. Anterior end posterior
concentration is less and less.
o High levels of transcription of the Anterior (head) of area.
Not turned on
o Embryos have a mutation, end up as a 2 tailed embryo.
Because bicoid cannot turn on genes to make anterior
parts, mutant larvae happens.
Maternal effect gene regulate zygotic genes: Genes of the zygote
2 main categroies
o The segmentation genes: they form the early segments
o Homeotic genes: give segments more identity, structure.
Fingers, toes etc
Look at cascade of gene expression, first lot are maternal effect
genes, at egg due to fertilization
o Turn on zygote genome
o Transcription factors that cause development
NB: Know hierarchy of genes

 One particular gene is sonic hedge hog

Named after phenotype: general phenotype
***RUNT (gene) see what happens in humans HINT******
Segmentation gene: pair rule gene of drosophila
Mutations in gene, cause cleidocranial dysplasia
Lack of collar bone (malformed collarbone)
Problems with skull
Polytene chromosomes: giant chromosomes that happen in most
flies, happen in salivary glands- make multiple copies of chromosome but
dont separate. Many copies of these gens increase transcription.
For all cells to start differentiating, because this is easy to see. Is
that regions of different, produce puffs will be at different regions of
chromosome.
When larvae molts shell, genes are expressed.
Homeotic genes; are involved in a more precise direction of
different segments
What happens if you receive a mutation in homeotic gene is
called Homeosis
This is when you have a duplex in development. (ie. When in
place of antenna there are legs)
Human: ACS: auriculocondylar syndrome, upper jaw and lower
jaw are same. Homeosis
Hox Genes:
Similar homeotic gene as flies
39 hox genes (human)
Common ancestor
Synpolodactyly
HoxD13: means there are a lot of PolyA tract

o Expansion mutates gene

MEOX1 : mutations, mesenchyme homeobox 1
Teratogens: Warfarin: sever deformities
Organogenic times (first trimester) is radioactive
Retionic acid: effective as acne treatment
Also called isocretinoin, roaccutaine retin A
Malformations: particularly in craniofacial.
NHMRC alcoholic recommendation during pregnancy since 2007 is
0% intake.

DEVELOPMENTAL GENETICS
BIOTECHNOLOGY
Explain how advances in recombinant DNA technology have helped
scientists study genomes.
2. Describe the natural function of restriction enzymes and explain
how

they are used in recombinant DNA technology.

3. Outline the procedures for cloning a gene in a bacterial cell.
4. Describe a cloning vector with an example.
5. Describe two techniques to introduce recombinant DNA into
eukaryotic cells.
6. Describe the Polymerase Chain Reaction and its application
7. Describe how DNA technology is used to study the sequence,
expression and function of genes
Describe how DNA technology can have medical applications in
such areas as the development of gene therapy, vaccine
production,

and the development of pharmaceutical products.

9. Explain how DNA technology is used in the forensic sciences and
to
determine paternity.
10. Describe how gene manipulation has practical applications for
environmental and agricultural work.
11. Describe reproductive and therapeutic cloning and why these
techniques are controversial.
12. Discuss the safety and ethical questions related to recombinant
DNA studies and the biotechnology industry.
13. Describe the different types of DNA sequence arrangements.
DFN: technology involving the combination of different types of DNA
= recomibinant DNA

Genetic engineering manipulation of genes for practical purposes

Closing- Gene organisms
2 main goals for gene cloning:
Protein production: for research purposes, or may not, bulk
protein.
Eg insulin
Gene Transfer: Introduction of a foreign or manipulated gene
into a cell.
Useful for gene therapy, animal or plant improvement.
2 organisms need to be able to create new species.
Post zygote of species (isolation)
Pre zygote (behavioural) Geographical, physical barriers
Allopatric speciation: 2 species become different
Like on 2 different sides of a river warm/cold weather
Natural Selection: Charles Darwin
Species diverge
One species can diverge into 2
However are
Sympatric diverge

Artificial selection
Same species, can have fertile production

Dog breeding
Gene pool would be genetically isolated
Morula: - raspberry (latin)
Cells wad 32
Blastula: bilateral symmetry, built around a tube.
Gastulation
Begins when an indentation forms on blastula
Blastopore: indentation (creating hollow bead of cell)
Protostone:
Deuterostome: A butthole attached to a bunch of cells
At the moment (ectoderm (outer skin) (endoderm (inner)
digestive tract) Mesoderm (repro, etc))
Third layer of tissue,
Sea sponge doesnt have a mouth and anus Radial symmetry
85% genetically similar to mice
Developmental regulatory genes:
Hox genes: They are the planner