M icrobial G enetics

M utations
C hapter 8
 M U T A T I O NS
Definition:
C hange in the base sequence of D N A

M utations may be neutral, beneficial,

or harmful

How does a change in the D N A affect a protein?

 T ypes of mutations

1. Base substitution

2. A ddition or deletion of nucleotides

(F rame shift mutations)
 1. Base Substitution
‡ Results from mistakes during D N A
synthesis

‡ Incor rect base is incorporated into D N A

‡ M ay involve changing one or multiple

base pairs
 1. Base Substitution
A . Point mutations:
O ccur when one base pair is changed

B. M issense mutation:
M utation resulting from amino acid
substitution
Base Substitution: M issense mutation
 1. Base Substitution
C . Nonsense mutation:
M utation that changes an amino acid
codon to a stop codon
 1. Base Substitution
D. Silent mutation:
No change in amino acid
 2. A ddition/Deletion M utations

‡ Insertion or deletion of one or more

nucleotide pairs

‡ Shifts the translational reading frame

‡ Shifts the codons

‡ M utation called frameshift mutation

‡ A ffects all amino acids downstream
from addition or deletion
2. A ddition/Deletion M utations:
F rameshift

Figure 8.17a, d
 2. A ddition/Deletion M utations

‡ A lmost always result in an inactive

protein from the mutated gene.

‡ +XQWLQJWRQ¶VGLVHDVHLQKXPDQV
 THE CAT ATE RAT
Silent T H E C A T aT E RA T
M issense T H E C A T A R E R A T
Nonsense T H E C A T A .
F rameshift T H E C A T A A T E R A T
 C auses of mutations

1. Spontaneous
‡ Spontaneous mutations occur in
natural environment
‡ O ccur infrequently and randomly
2. ,QGXFHG«FDXVHGE\PXWDJHQV
‡ C hemicals
‡ Radiation
 Rate of mutation
‡ Probability that a mutation will be
observed in a given gene each time the
cell divides
1. Spontaneous: O nce in every million
gene replications (rate of 10-6)
Low rate is due to cellular repair
mechanisms
2. Induced: rate of 10-5 to 10-3
Induced M utations: C hemical mutagens
1. Base analogs
Chemicals that are structurally similar to
the nitrogenous bases but have slightly
altered base pairing properties.
For example, 5-bromouracil which
incorporates in the place of thymine but
binds with guanine
Induced M utations: C hemical mutagens
2. Intercalating agents
‡ Molecules that insert themselves
between adjacent bases
‡ C reate space between bases
‡ E xtra base is often added to fill
space
‡ E thidium bromide is common
intercalating agent
‡ E xamples
 Induced M utations:Radiation
1. Ultraviolet light
C auses covalent
bonding between
adjacent thymine
bases........Forms
thymine dimers
which distorts D N A

2. X rays
alterations in D N A : B reaks that occur on
both strands are often lethal