Mutations In Gene
All mutations consist of changes in the sequence of DNA.
Mutations may occur spontaneously or may be induced by mutagens.
Spontaneous mutations & Induced mutations
All organisms or cells suffer a certain number of mutations as the result of normal
cellular operations or random interactions with the environment. These are called
spontaneous mutations.
Mutations are rare events, and of course those that damage a gene are selected
against during evolution.
The occurrence of mutations can be increased by treatment with certain compounds.
These are called mutagens, and the changes they cause are referred to as induced
mutations. Most mutagens act directly by virtue of an ability either to modify a
particular base of DNA or to become incorporated into the nucleic acid. By using
mutagens, it becomes possible to induce many changes in any gene.
Figure 1: Mutation by Mutagens (Nitrous Acid)
Point Mutation
A point mutation changes a single base pair.
Point mutations can be caused by the chemical conversion of one base into another
or by mistakes that occur during replication.
During point mutation, Chemical modification of DNA directly changes one base into
a different base.
A malfunction during the replication of DNA causes the wrong base to be inserted
into a polynucleotide chain during DNA synthesis.
Point mutations can be divided into two types, depending on the nature of the
change when one base is substituted for another:
1] The most common is the transition, comprising the substitution of one pyrimidine
by the other, or of one purine by the other. This replaces a G C pair with an A T pair
or vice versa.
2] The less common is the transversion, in which a purine is replaced by a
pyrimidine or vice versa, so that an A T pair becomes a T A or C G pair.
The frequency of point mutation can be increased by mutagens.
Frame Shift Mutation
This type of Mutation is due to Insertions or Deletion of a DNA segment
Insertions of stretches of additional material are quite frequent. The source of the
inserted material lies with transposable elements, sequences of DNA with the ability
to move from one site to another.
An insertion usually abolishes the activity of a gene. Where such insertions have
occurred, deletions of part or all of the inserted material, and sometimes of the
adjacent regions, may subsequently occur.
Figure 2: Point mutation & its Reversion
Figure 3: Frame shift mutation & its Reversion
The effects of mutations can be reversed
Mutations that inactivate a gene are called forward mutations.
Their effects are reversed by back mutations, which are of two types (true reversion
& site reversion)
1] An exact reversal of the original mutation is called true reversion. So if an AT pair
has been replaced by a GC pair, another mutation to restore the AT pair will exactly
regenerate the wild-type sequence.
2] Alternatively, another mutation may occur elsewhere in the gene, and its effects
compensate for the first mutation. This is called second site reversion. For example,
one amino acid change in a protein may abolish gene function, but a second
alteration may compensate for the first and restore protein activity.
Mutations can also occur in other genes to circumvent the effects of mutation
in the original gene. This effect is called suppression. A locus in which a mutation
suppresses the effect of a mutation in another locus is called a suppressor.
However Mutation by DNA Deletion cannot be reversed (Figure 4)
Figure 4: Mutation by DNA Deletion
