Anatomy & Physiology 12 Unit 3: DNA & Protein Synthesis Name:

Gene expression, through

protein synthesis, is an
interaction between genes and
the environment.

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 -------------------------------Part 1: DNA Replication-------------------------
So what do we know?
DNA is composed of units called , which are composed of three sub-molecules:
1. (deoxyribose)
2.
3.

Watson & _______________ and ________________

à what did they do?

DNA
Functions:
— and copies itself ( ) to
pass on the information
— contains (instructions to make proteins)
— DNA cell’s activities
— Complimentary Base Pairing
— =A&G
— =T&C

Nucleotide Bases

PURINES PYRIMIDINES

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 — DNA is composed of two strands of nucleotides joined by
— with (A-T or T-A)
o They join with ___ hydrogen bonds
— with (C-G or G-C)
o They join with ___ hydrogen bonds
— DNA twists into a

Now you try replication!

Here is the parent strand. What would be the base pairs on the complementary strand?
5’ - A G C T G T C A A C G T – 3’
____________________________

DNA Structure
— = DNA strand + histones (proteins)
wrapped around the DNA
— = condensed chromatin

Hierarchy of DNA
A is a section of Nucleotide

a chromosome that
codes for a protein DNA

polymer of nucleotides

Chromatin

Chromosomes

Genome

full set of genetic information within a species

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Cell Cycle
— The cell cycle can be thought of as the

Mitosis
— Mitosis is a type of cell division in which one cell (the )
divides to produced 2 new cells (the )
that are genetically to itself. The DNA of the
cell’s nucleus is split into
of chromosomes.

DNA Replication
— DNA replication is the in a cell
— Occurs in the nucleus during INTERPHASE ( cell division)
— Why?
—
à
à
à

Steps of DNA Replication

1. :
— DNA strand
— (enzyme) breaks
→→ “unzipping”
2. :
— DNA nucleotides move into position to with their partners on the DNA strands
(“the templates” or “the strands”)

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3. :
— 2 new sugar-phosphate backbone forms when enzyme, , forms
bonds between new nucleotides.
— repairs breaks in the backbone
àEnd up with DNA strands
which are (composed the original
“ ” and a new “ ”
strand)
FYI: DNA replication occurs about 100 nucleotides per second

Semi-Conservative =

4.
— also checks for mistakes ( )

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 -------------------------------Part 2: Protein Synthesis-------------------------

What is the connection between DNA and protein?

• Remember: DNA can’t leave the but protein synthesis occurs in the …
How?
• protein message must be carried from the ® ®

RNA Structure:
• polymer of nucleotides
• sugar unit
• stranded
• (not helical)
• A, C, G, U - uses ( ) rather than
thymine (T)
• made in , but outside of the nucleus
Function:
• aids in
• uses DNA strand as the to make its strand using complimentary base pairing
à this means that the DNA is the “ ”

3 Types of RNA (All help in the protein synthesis):

•
– carries transcribed message from to (nucleus
to cytoplasm)
•
– carries the that will base pair with mRNA to make

•
– makes up the (along with proteins)

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Overview of gene expression

Two Steps of Protein Synthesis: Transcription & Translation

Step 1:
• DNA code ( ) has instructions to make a particular protein
• Instructions are copied into in the nucleus

Steps of Transcription
A. opens the section of DNA (the gene)
– Begins at site
– Continues until site

B. base pairs attach to form the mRNA strand (

forms the RNA sugar-phosphate backbone and checks for mistakes)

C. Complementary mRNA

through the and goes to the cytoplasm

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Step 2:
• The code is made up of groups of three nucleotide bases known as .
• Each codes for a specific
Eg. AGC = Eg. UGC = (see mRNA codon table handout)
CAU? ________________ CUU?________________ AUG? ________________
GGC? ________________ UGA? ________________ AAA? ________________

• How many different aa’s are there?

• CODONS:

Translation (occurs in only)

• Occurs at (a large and a small subunit made up of and proteins
• rRNA is made in the
• is found free-floating in the

tRNA structure:
• molecule is a small piece of RNA that has a
to one end
• at the other end, an (3 bases that
will mRNA )

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 • Please note that there is
than for each :

3 STEPS in Translation
A. (means “start”)
• ribosomal come
together and attaches
• an (start) codon (always
) turns on the process
B. (what is getting bigger?)
• tRNA (with specific aa)
matches up with the mRNA codon
• Each tRNA to find another aa as
mRNA moves over one codon & another tRNA
brings the next aa
• aa’s continually building a

C. Termination
• When ribosomal unit reaches any ‘
‘ codon, the message is to translation
• There are codons (UAA,
UAG, UGA)
• None of these have matching tRNA

• Ribosome subunits again

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still translation but not a step
– often ribosomes work together on one protein
• Each ribosome makes a of the protein
• This is done for proteins. This enables these large proteins to be made
.
• Also called a

CRACKING THE GENETIC CODE

DNA STRAND (one gene):
DNA daughter strand

DNA parent strand: T A C/A C G/C C G/C G A /A C T

mRNA strand:

tRNA strand:

amino acid sequence:

Central “Backbone” of Biology

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 -------------------------------Part 3: Mutations-------------------------
Question: What if something goes wrong during translation?
Answer:
• A in the of DNA
• When the bases (‘letters’) change, the wrong amino acids are used to make the protein.
• The protein will be able to do its .

A mutation .
1. it may occur during DNA replication or
2. it may be caused by ( ) causing an increased
rate of mutations.

There are 3 types of mutagens:

a) – food additives, hallucinogenic drugs, asbestos, DDT,
manufactured chemicals, pesticides, etc.
b) – some are natural (cosmic rays, UV)
c) – bacteria and viruses such as human pampiloma virus (HPV) that
causes warts or hepatitis B and C which cause liver damage and cancer.

There are 2 types of MUTATIONS:

1. : a mutation of of a chromosome.
This usually involves , and therefore, .
Example: Down’s syndrome.
2. : a mutation that occurs within a gene at some along
a chromosome. This mutation is only a change of (nitrogenous bases).
It usually only affects , and therefore, .
Example: Sickle cell anemia.

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There are 3 common point (gene) mutations:
1. – not as serious. One nucleotide is for another.
v This may or may not change the AA
Ex) G is substituted for T
Only is affected
ATG CCT TAC
ATG CCG TAC

2. – Serious. One nucleotide is deleted so the codons are changed from that point on.

ò The
ò Ex) T in the first codon is deleted
ATG CCT TAC
AGC CTT AC .

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 3. – Serious.
ò One nucleotide is randomly added so the codons are changed from that point on.
ò The reading frame is
ò Ex) A is inserted in the first position on the second codon
ATG CCT TAC
ATG ACC TTA C
(this last codon is incomplete and does not make sense)

It is important where and when a mutation occurs

1. - in the
• may affect the individual but are not passed on to offspring
• ex. many cancers
2. - occurs in the
• inheritable and may be good (rare) or bad
• have driven evolution.
• Ex. hemophilia

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Chromosomal Mutations
• a mutation of of a chromosome
• : end of a chromosome breaks off or 2
simultaneous breaks in a chromosome leads to a loss of a segment
• : a chromosomal segment is repeated.
Can occur when a segment that has broken off attaches to its
homologue or unequal crossing over can occur.

• : a segment of a chromosome is turned

around 180°. This leads to an altered gene.
• : movement of a segment of a
chromosome from one chromosome to another, non
homologous chromosome.

What Are Genetic Mutations?

ò Genetic disorders are medical conditions caused by
in a gene or a set of genes. Mutations can happen at any tie, from
when we are a single cell to when we are 90 or older!
Sickle cell anemia
ò A-T changed to T-A
( )
ò GAG (glutamate) become GTG (valine).
ò In sickle cell anemia, RBC can become and
(like a sickle) and stiff.
ò Sickle RBCs don’t always travel smoothly through the blood vessels,
so “traffic jams” can occur in the blood vessels
ò If “traffic jams” occur, part of the body
or .
ò This can cause problems in the bones, spleen, lunches, kidneys
and/or brain
ò FUN FACT: There is a high rate of sickle cell prevalence in parts of Africa where there is malaria. People
with sickle cell anemia cannot contract malaria!

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 caused by a deletion of AA phenylalanine
– insertion of multiple copies of CAG or glutamine
ò Point insertions rare -usually result of gene therapy.
How to detect mutations:
• Radioactively labeling one nucleotide can allow us to see if a change has occurred in the DNA or RNA
ò Radioactive used to see changes in
ò Radioactive used to see changes in

-------------------------------Part 4: Genomics & Biotechnology-------------------------

Genomics: Human Genome Project
• The Human Genome Project (HGP): brought together scientist from around the world. 18 countries
were involved including: Canada, China, France, Germany, USA, Japan & the UK.
• HGP = map of all on the 23 human chromosomes (1988-2003)
• Information has led to many advances in the fields of medicines , agriculture, bio-engineering.
• An organisms is the total DNA in the nucleus of each cell

Genomics: 1000 Genomes Project

• Scientists sequenced the genomes of a minimum of a thousand (unidentified) participants from a
number of various ethnic groups.
• The 1000 Genomes Project (1KGP) was made up of scientists from around the world such as China, Italy,
Kenya, Nigeria, Peru, the UK, & the USA.
• This project will map ( ).

Genomics: 1000 Plant Genomes Project

• 1000 Plant Genome Project (oneKP or 1KP) is the sequencing of
done at the University of Alberta.

Genetic Engineering
1. Biotechnology refers to the technology used to DNA.
2. The procedures are often referred to as
3. DNA is the genetic material of all living organisms
• All organisms use the genetic code ( )

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Creating Recombinant DNA
1. ( ) refers to the DNA from the two
organisms
• Can be used for creating organisms, gene therapy, & cloning.
2. rDNA technology was first used in the 1970’s with .
3. A is a small ring of DNA in a bacterium.

4. Making recombinant bacteria

a) Remove bacterial DNA (the )
b) But the bacterial DNA with “ ”
• Restriction enzymes were discovered in bacteria
• Bacteria use them as a defense mechanism to cut up the DNA of viruses & other bacteria
• Hundreds of different have
been isolated
• Each restriction enzyme or RE cuts DNA at a

• For example, EcoRI always cuts DNA at GAATTC as indicated

beside

• Fragments of DNA that has been cut with restriction

enzymes have unpaired nucleotides at the ends called

• Sticky ends have complimentary bases, so they

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c) Cut the from the organism’s DNA with the restriction enzyme
d) Combine the “ ” of the two DNA pieces together with (enzyme) –
also known as .
• This creates a = a DNA molecule used to carry a gene of interest from one
organism to another
• are the most commonly used vectors

e) Insert vector into bacteria

f) The bacteria can now the recombinant DNA
g) The foreign genes will be in the bacteria

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5. Benefits of Recombinant Bacteria
• Bacteria can make human or
• Bacteria can be engineered to “ ”

What can we do with genes?

1. – rDNA techniques are used in DNA fingerprinting

2. Gene Therapy
• A“ ” gene is inserted into the genome to replace an “ ,”
disease-causing gene
• In the future, may be used to treat a disorder by inserting a gene into a patient's cells instead of using
drugs or surgery.

• Types of gene therapy:

• a mutated gene that causes disease with a healthy copy of the
gene
• , or “knocking out” a mutated gene that is functioning
• Introducing a new gene into the body to help fight a disease
• Currently, the only way for you to receive gene therapy is to participate in a clinical trial
• are research studies that help doctors determine whether a gene
therapy approach is safe for people

Risk factors of gene therapy

• immune system reaction
• Your body’s immune system may see the newly introduced viruses as intruders & attack them
(inflammation & organ failure)
• Targeting the . Viruses could infect healthy cells and cause other
illnesses, including .
• caused by the virus. Viruses may recover their original ability to cause disease.
• Possibility of causing a . If the new genes get inserted in the wrong spot in your
DNA, there is a chance that the insertion might lead to tumor formation.

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3. Gene Cloning: Creating

• Example: (1996-2003)
• It took 276 attempts before successful

4. can be used to generate virtually any type of

specialized cell in the human body
• The goal of this process is to harvest stem cells that can be
used to study human development and to treat disease.
• Stem cells are extracted from the egg after it has divided for 5 days
• The extraction process the embryo, which raises a variety of

• Researchers hope that stem cells can be a treatment for heart disease, Alzheimer’s, cancer & other
diseases.

5. are organisms with artificially altered DNA. They

can be created by:
• a foreign gene: organisms that are altered in this way are known as transgenic
organisms.
• the base sequence of an existing gene (gene therapy)
• or “Turning off” an existing gene (so they don’t produce their protein)
• Deactivating the gene responsible for the ripening of tomatoes. This new gene can then be
inserted into tomato DNA to give them a longer shelf life (they will not go rotten as fast)

GMO
• GMO are also called : organisms that contain
functional recombinant DNA
A)
• -resistant & -resistant crops
• Hardier fruit
• 70-75% of food in markets is genetically modified

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Examples of transgenic plants:
• B.t. Cotton
• incorporated Bacillus thuriniensis bacteria to make a toxin against insects (a natural insecticide)
•
• These bananas that contain a vaccine for hepatitis B and cholera
• When an altered form of a virus is injected into a banana sapling, the virus’ genetic material
quickly becomes a permanent part of the plant’s cells
• Bananas provide an means for delivering a (especially to
children) without the need for needles!
•
• These genetically modified cabbages would produced scorpion poison that kills caterpillars when
they bite leaves – but the toxin is modified so it isn’t harmful to humans.

How to create a GM Plant:

• Create with desired
• Allow the bacteria to “ ” the plant cells
• Desired gene is inserted into plant chromosomes

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B) Transgenic ANIMALS
•
• Methane is a major contributor to the , so scientists have
been working to genetically engineer a cow that
produces
•
• Inserted the protein for glowing
from a jellyfish
•
• Pigs that can produce less ,
contain Omega-3 fats, & produce more milk
•
• Atlantic salmon that have been given a growth-hormone
gene from the Chinook salmon to make larger in ½ the
time

Pros & Cons of GMOs

Pro
• Disease resistant crops
• vaccines & (insulin, human growth hormone)
• livestock (more meat, milk, wool, etc)
• Possible for diseases
• friendly organisms (enviro-pig, less methane producing cows, etc)
Cons
• – technology is new & no guarantee that products are free of side
effects
• – companies patent genes & demand high prices
• Unexpected impacts of GMO & biotechnology processes on the environment
• Concerns over the safety & ethics of incorporating GMOs into food for consumption
• Allergens

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What is a Genetically modified (GM) food?
• Foods that contain an gene sequence
• Foods that have a gene sequence
• Animals products from animals
• Products by GM organisms

Benefits of GE Crops used for food

• Reduced use of chemical
• Less of chemicals into waterways
• Greater use of farming practices that prevent soil erosion
• Higher for farmers
• Less fungal contamination
• More foods (higher nutritional quality)
• Easing world hunger
• Crops that can be grown in poor soil
• resistant crops
• Salt-tolerant crops
• Improved crop quality
• resistant crops
• resistant crops
• resistant crops

-------------------------------END OF UNIT 3!-------------------------

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