8/6/2019 Mutations 1

1/15

Mutations

8/6/2019 Mutations 1

2/15

Mutation: damage to genetic material

A mutation to genetic material is usually

not beneficial. Mutagens are things that

cause mutations, they include:

1. High Temperatures2. Toxic Chemicals (pesticides, etc)

3. Radiation (nuclear and solar)

Many common place items are capableof causing mutations: microwave, fruit

from the store, radar, cellular phones.

8/6/2019 Mutations 1

3/15

Somatic vs Germ Mutations

Some people may havemutations in their skin cells

or hair. Such mutations are

termed Somatic. Germmutations occur only in the

sex cells. These mutations

are more threatening

because they can be passed

to offspring (forever).

8/6/2019 Mutations 1

4/15

Meiosis is a

prime time for

mutations to

occur.

The germ

mutations that

occur during

meiosis couldbe passed on

during a

fertilization

8/6/2019 Mutations 1

5/15

Mutations effect protein synthesis

Transcription:Mutated DNA

will produce

faulty mRNAleading to the

production of a

bad protein.

8/6/2019 Mutations 1

6/15

Types of mutations

Chromosomal:affecting whole

or a part of a

chromosome

Gene: changes

to the bases in

the DNA of one

gene

8/6/2019 Mutations 1

7/15

8/6/2019 Mutations 1

8/15

Chromosome Mutations: Nondisjunction

During meiosis

tetrads may notsegregate or in

meiosis II, sister

chromatids maystick together.

Nondisjunction.

The above karyotype is of a person who has

nondisjunction of the 21st shromosome or Down

syndrome. (note the extra chromosome)

8/6/2019 Mutations 1

9/15

Nondisjunction of the sex chromosomes

8/6/2019 Mutations 1

10/15

Gene Mutations: DNA base alterations

Point mutation

Insertion*Deletion*

Inversion

*Frame Shifts*

8/6/2019 Mutations 1

11/15

Point mutation - when a base is replaced

with a different base.

CGG CCC AAT to CGG CGC AAT

Guanine for Cytosine

Insertion - when a base is addedCGG CCC AAT to CGG CGC CAA T

Guanine is added

Deletion - the loss of a base

CGG CCC AAT to CGG CCA A T

loss ofCytosine

8/6/2019 Mutations 1

12/15

Frame Shift mutations

A frame shift mutation results from a basedeletion or insertion. Each of these

changes the triplets that follow the

mutation.CGG CCC AAT to CGG CGC CAA T

Frame shift mutations have greater effectsthan a point mutation because they

involve more triplets (recall how

important triplets are to protein synthesis)

8/6/2019 Mutations 1

13/15

The Frame shift

changes the mRNA

produced.mRNA from DNA

as expected..

GGG CCC TTT AAACCC GGG AAA UUU

Mutated DNA GGC GCC CTT TAA ACCG CGG GAA AUU U

All the triplets are changed, this in turn

changes the amino acids of the protein!

8/6/2019 Mutations 1

14/15

Protein shape determines how a protein

will function. A change in one amino acid

may change the shape enough to distort

the protein (as in sickle cell disease).

Thus, change in one base couldpotentially distort a whole protein. It is

more likely that a frame shift mutation

will change several triplets and distort aproteins structure.

8/6/2019 Mutations 1

15/15

Practice some examples?