What are mutations?

• MUTATIONS are any

changes in the
sequence of bases
of DNA
Mutations DO NOT
lead to this
Mutations COULD
lead to this
Colon cancer cells
 Mutations

Changes to DNA

2009-2010
 Mutations
• Changes to DNA are called mutations
– change the DNA
– changes the mRNA DNA TACGCACATTTACGTACG

– may change protein

– may change trait mRNA AUGCGUGUAAAUGCAUGC

protein aa aa aa aa aa aa aa

trait
Types of mutations
• Changes to the letters
(A,C,T,G bases) in the DNA
– point mutation
• change to ONE letter (base) in the DNA
• may (or may not) cause change to protein
– frameshift mutation
• addition of a new letter (base) in the DNA sequence
• deletion of a letter (base) in the DNA
• both of these shift the DNA so it changes how the
codons are read
• big changes to protein!
Point Mutations
• One base change
– can change the meaning of the whole protein

THEFATCATANDTHEREDRATRAN
Does this change

the sentence?

A LITTLE!

THEFATCARANDTHEREDRATRAN

OR

THEFATCATENDTHEREDRATRAN
Point Mutations
• Missense mutation = changes amino acid
AUGCGUGUAUACGCAUGCGAGUGA

Met Arg Val Tyr Ala Cys Glu Stop

Does

this change

the protein?

DEPENDS…
AUGCGUGUAUACGUAUGCGAGUGA

Met Arg Val Tyr Val Cys Glu Stop

Sickle cell anemia
• Hemoglobin protein in red blood cells
– strikes 1 out of 400 African Americans
– limits activity, painful & may die young

Normal Misshapen

round cells sickle cells

Only 1 out of

146 amino acids

Point Mutations
• Silent mutation = no change to protein

AUGCGUGUAUACGCAUGCGAGUGA

Met Arg Val Tyr Ala Cys Glu Stop

Does
Thethis
codechange
has

the protein?
repeats in it!

Why not?
AUGCGUGUAUACGCUUGCGAGUGA

Met Arg Val Tyr Ala Cys Glu Stop

Point Mutations
• Nonsense mutation = change to STOP

AUGCGUGUAUACGCAUGCGAGUGA

Met Arg Val Tyr Ala Cys Glu Stop

Really destroyed

that protein!

AUGCGUGUAUAAGCAUGCGAGUGA

Met Arg Val Stop

 Frameshift Mutations
• Add or delete one or more bases
– changes the meaning of the whole protein

THEFATCATANDTHEREDRATRAN
Does this change

the sentence?

A LOT!

Delete one!!
Add one
THEFATCANTANDTHEREDRATRAN

OR

THEFATCAANDTHEREDRATRAN
Frameshift Mutations
• Addition = add one or more bases

AUGCGUGUAUACGCAUGCGAGUGA

Met Arg Val Tyr Ala Cys Glu Stop

Does this change

the protein?

A LOT!

AUGCGUGUAUACGUCAUGCGAGUGA

Met Arg Val Tyr Val Met Arg Val

Frameshift Mutations
• Deletion = lose one or more bases

AUGCGUGUAUACGCAUGCGAGUGA

Met Arg Val Tyr Ala Cys Glu Stop

Does this change

the protein?

A LOT!

AUGCGUGUAUACGAUGCGAGUGA

Met Arg Val Tyr Asp Ala Ser

Important*********

• A mutation can ONLY be passed

down to the offspring if the mutation
happens in the egg or sperm cell!
 How do mutations occur?
• Sometimes during replication, the
cell makes a mistake and adds the
wrong base
• When the cell replicates its DNA
again, the two strands that are
produced are no longer exactly the
same
• This usually will cause the new cell
to die, but sometimes it can cause
the cell to divide when it is not
supposed to  cancer
How do mutations occur?

Replication
What can cause mutations to happen more
often?
Mutations
• Mutation – sudden genetic change (change in base pair
sequence of DNA)
• Can be :
Harmful mutations – organism less able to survive:
genetic disorders, cancer, death
Beneficial mutations – allows organism to better
survive: provides genetic variation
Neutral mutations – neither
harmful nor helpful to organism
• Mutations can occur in 2 ways:
chromosomal mutation or
gene/point mutation
• Examples:
Down’s syndrome – (Trisomy 21) 47 chromosomes,
extra chromosome at pair #21
Turner’s syndrome – only 45
chromosomes, missing a sex chromosome
(X)

Girls affected – short, slow growth, heart

problems
Having an extra set of chromosomes is
fatal in animals, but in plants it makes
them larger and hardier.
Questions

1. Name and describe the two main

types of mutations we talked about
today.
2. Do mutations always cause a
change in amino acid? Why or why
not?