DNA Mutations
Normal Protein
1.
Formation
A segment of DNA strand is
copied by mRNA in the
nucleus.
2. mRNA leaves nucleus and
goes to ribosome in
cytoplasm.
3. Ribosome “reads” mRNA
and calls for specific amino
acids.
4. Amino acids linked together
by strong covalent peptide
bonds to form polypeptide
protein chain.
Mutations in
DNA will code
for wrong amino
acids which will
cause wrong
protein to form.
Can lead to cell
death, disease,
disorders
What is a
mutation?
Any change in a gene or chromosome.
Most are natural and have no effect on
the organism-
MUTATIONS ARE THE PRIMARY
SOURCE OF GENETIC VARIATION
Some are harmful
Some are lethal (cause death in
offspring)
Some are good for the organism (ex:
some mosquitoes have a gene mutation
that makes them resistant to pesticide-
leads to evolution of stronger mosquito
populations)
How can
mutations
happen?
1. Errors in replication
Repeated CAG (36+)
leads to Huntington’s
disease
2. Errors in DNA repair
mechanisms
Damage to DNA
repair mechanisms in
skin result in
Xeroderma
pigmentosum (XP)
Cannot repair
damage from UV rays
Leads to skin cancer
How can
mutations
happen?
3. Errors in mitosis or meiosis
Lead to changes in
chromosome number
Nondisjunction
Too many = polyploidy
Can be lethal in humans,
common in plants
Triploid bananas are what
you get in grocery store.
They are sterile (no seeds)
but bred with extra
chromosomes to help them
taste better & be seedless
Other examples include
agricultural crops like
wheat & strawberries that
produce bigger, tastier fruit
and produce greater yields
Down syndrome/Trisomy 21
– human genetic disorder
How can mutations
happen?
3. Errors in mitosis or
meiosis
Nondisjunction
Too few = monoploidy
Turner’s syndrome-
human genetic
disorder (XO)
Brassica plant
(ancestral plant for
cabbage, broccoli,
mustard) can be more
resistant to disease &
pests when it lacks
certain chromosomes
Errors in Meiosis
What are some causes of
mutations?
4. Environmental
Mutagen-
anything that
causes a mutation
in DNA in a cell.
UV light
Radiation
X rays
chemicals in
tobacco smoke,
synthetic
materials,
pollution
viruses
What are some types of
mutations?
1. Point mutation-
change in ONE
single nitrogen
base in ONE gene.
• This change
causes the code to
change so amino
acids are not put in
correct order.
• EX: albinism,
sickle cell anemia
Types of Point
Mutations
A. Silent- one letter change (Normal)
but no change in amino
acid= no change in protein
structure= no problems
B. Nonsense- one letter
change causes STOP
codon in middle of amino
acid chain= protein won’t
get made
C. Missense- one letter
change causes changed
amino acid= wrong protein
structure
What are some types of
mutations?
2. Chromosome Mutations
(Frameshift)- changes in
MANY genes, entire
segments of
chromosome are
messed up.
Because more genes are
involved, usually more
harmful to the organism.
If it causes a shift in the
reading frame it is called a
FRAMESHIFT mutation
Types of chromosome
A.
mutations
Deletion- part of
A
chromosome is lost
B. Duplication- part of
chromosome is B
repeated twice
C. Inversion-
chromosome breaks,
piece is turned over & C
reinserted upside down
D. Translocation- two
chromosomes
D
affected- one piece
detaches & reattaches
to another
chromosome
Types of chromosome
mutations Cont…
E. Insertion- a nitrogen base is
added which causes nitrogen
bases to shift to the right,
throws off amino acid
sequence.
F. Nondisjunction- a
chromosome pair fails to
separate properly during
meiosis (some sperm/egg get
too many chromosomes,
some get too few).
Monosomy- too few (45
chromosomes)
Trisomy- too many (47
chromosomes)
What is the difference
between germ cell mutation &
somatic cell mutation?
Germ Cell Somatic Cell
mutation: mutation
Occurs in Occurs in body cells
gametes Affects individual in
(sperm/egg) which it occurs
CANNOT be passed
Does not affect to offspring
individual person
If occurs in genes
CAN be passed to that control cell
offspring reproduction can
become CANCER.
What helps
reduce
mutations?
Wobble position of mRNA
codon can create silent
mutations
The last letter in a codon is the
wobble position.
This last letter can code for the
same amino acid
EX: if the original correct DNA
coded for GGG but when mRNA
copied DNA it accidently made
a copy with GGC you would
still get glycine- creates a
SILENT mutation.
Letters are different but codes
for same AA
What are sources
of prokaryotic
variation?
Variation in
prokaryotes is
achieved through
the horizontal
acquisitions of
genetic
information, aka
transposition.
3 methods:
What are sources
of Prokaryotic
Variation
1. Transformation
• uptake of naked
DNA from the
environment
sources
of
Prokaryo
tic
Variation
2. Transduction
• viral transmission
of genetic
information
What are
sources
of
Prokaryot
ic
Variation
3. Conjugation
• cell-to-cell transfer
of DNA through sex
pillus