Mutations

Protein synthesis summary

A nucleus A C

DNA

transcription

mRNA
translation

Cytoplasm:

ribosome

Trp

Phe Gly

Ser

PROTEIN

Definition: A mutation is

A change in the arrangement of bases in an individual gene or in the structure of the chromosome (which changes the arrangement of genes).

Frequency and repair of mutations

Mutations can occur in gametes and somatic cells. Chance of mutation is between 2-30 x 10-7 Faulty DNA can be repaired by specific enzymes. Unrepaired mutations will affect the new proteins being synthesised

Point mutations are caused by:

Changes in an individual gene due to miscopying of one or more nucleotides. Deletion or insertion of a nucleotide results in a frameshift:

C A T G C GAT C A G A T
Codon 1 Codon 2 Codon 3 Codon 4

Tyr Val

Arg Ala

Ser

Leu

Point mutations

Substitution mutations result in a change of one base:

TCGGCAT TAC G T GAA A

Met

His

Phe Leu

Ala

Val

Point mutation

Silent mutation Missense mutation Nonsense mutation

Silent mutations

Point mutation that does not change meaning of codon Due to degeneracy of genetic code Silent mutations do not result in changes in polypeptide sequence or function

Missense mutations

A point mutation that exchanges one codon for another causing substitution of an amino acid Missense mutations may affect protein function severely, mildly, or not at all. HbS mutation
glutamic acid -> valine causes sickle cell anemia

Nonsense mutations

A point mutation changing a codon for an amino acid into a stop codon (UAA, UAG or UGA).

Premature stop codons create truncated proteins.

Truncated proteins are often nonfunctional.

Some truncations have dominant effects due to interference with normal functions.
Factor XI deficiency

Blood clotting disorder most common cause is a nonsense mutation changes glutamic acid -> stop codon Short protein cannot function in clotting.

Chromosomal mutations

Gene deletion:

Gene duplication:

E C

Chromosome mutations

Inversion:

Translocation:

A
X

B
W

C Y

D Z

Whole-chromosome mutations

An entire chromosome is lost or repeated during cell division. Example: Downs syndrome is caused by having an extra chromosome 21.

The effect of mutations

Production of new/superior protein: Results: gain of reproductive advantage Neutral mutation: Result: No change Production of inferior or no protein: Result: Fatal and/or disease causing.

Not all mutations are harmful!

Mutation is necessary to provide a variable background on which selective forces can act Many examples of beneficial mutations are known

Lactase absorbers have autosomal dominant mutation

allowing for production of lactase through adulthood Mutation in cell surface protein (CCR5) confers resistance to HIV infection

Causes of mutations

Mutagens such as: X-rays ionising radiation chemicals

Where can you find mutagens?

Mutagen Aflatoxin B 2-amino 5-nitrophenol 2,4-diaminotoluene Source Fungi growing on peanuts and other foods Hair dye Hair dye

Furylfuramide Nitrosamines Proflavine Sodium nitrate Tris (2,3-dibromopropyl phosphate)

UV radiation Xray irradiation

Food additive Cigarette smoke, pesticides Veterinary antiseptic Smoked meats Flameretardantinchildrens sleepwear
Sunlight, tanning booths Medical Xrays

Summary

Define the term:

duplication deletion mutation

translocation

somatic

insertion mutagen

Downs syndrome

inversion

Mutation overview.......
Type of mutation
Normal Missense Nonsense Frameshift Deletion Insertion Duplication

Example

THE ONE BIG FLY HAD ONE RED EYE THQ ONE BIG FLY HAD ONE RED EYE THE ONE BIG THE ONE QBI GFL YHA DON ERE DEY THE ONE BIG HAD ONE RED EYE THE ONE BIG WET FLY HAD ONE RED EYE THE ONE BIG FLY FLY HAD ONE RED EYE

Expanding mutation generation 1 THE ONE BIG FLY FLY HAD ONE RED EYE generation 2 THE ONE BIG FLY FLY FLY HAD ONE RED EYE generation 3 THE ONE BIG FLY FLY FLY FLY FLY HAD ONE RED EYE