Mutation and its types
Types of Mutations
A. The Type of Cell Involved
Somatic mutations Germinal mutations
• Mutations that are in the somatic tissue of • Mutations that are in the germ tissues of the
the body. body.
• Mutations are not transmitted to progeny. • Mutations may be transmitted to progeny
• The extent of the phenotypic effect depends • Dominant mutations are seen in the first
upon whether the mutation is dominant or generation after the mutation occurs
recessive(dominant mutations generally have
a greater effect). • If a female gamete containing an X-linked
mutation is fertilized, the males will show the
• The extent of the phenotypic effect depends mutant phenotype
upon whether it occurs early or late in • A recessive mutation will only be seen upon
development( early arising mutations have a the chance mating with an individual carrying
greater effect). the recessive allele too; thus, the recessive
mutation may remain hidden for many
generations
B. MODE OF ORIGIN
C. Direction of Mutation
According to their mode of direction following types of mutations have been
recognised:
1. Forward mutations
In an organism when mutations create a change from wild type to abnormal
phenotype, then that type of mutations are known as forward mutations.
Most mutations are forward type.
2. Reverse or back mutations
The forward mutations are often corrected by error correcting mechanism,
so that an abnormal phenotype changes into wild type phenotype.
A suppressor mutation is a genetic change that hides or suppresses the effect of
another mutation. This type of mutation is distinct from a reverse mutation, in which
the mutated site changes back into the original wild-type sequence
D. SIZE AND QUALITY
According to size following two types of mutations have been recognized
1. Point mutation 2. Multiple /gross mutations
Silent mutation(synonymous mutations): since the genetic code is degenerate, several codons produce the same amino acids.
Especially, third base changes often do not affect the amino acid sequence of the protein. These mutations affect the DNA but not the
protein. Therefore, they are called neural mutations, mutations that should have no effects on the organism’s phenotype.
Phenotypic Effects
In 1943 Salvador Luria and Max Delbrück used the acquisition of resistance to T1 to determine
whether the mutation mechanism or the adaptation mechanism was correct. They used the
fluctuation test: Consider a dividing population of wild-type E. coli that started with a single cell
(Figure 7.2)
Principle
[Link] test uses several strains of bacteria (Salmonella, [Link]) that carry a
particular mutation.
[Link] mutations are made in the histidine (Salmonella typhimurium) or the
tryptophan (Escherichia coli) operon, rendering the bacteria incapable of
producing the corresponding amino acid.
[Link] mutations result in his- or trp- organisms that cannot grow unless
histidine or tryptophan is supplied.
[Link] culturing His- Salmonella is in a media containing certain chemicals,
causes mutation in histidine encoding gene, such that they regain the
ability to synthesize histidine (His+). This is to say that when a mutagenic
event occurs, base substitutions or frameshifts within the gene can cause a
reversion to amino acid prototrophy. This is the reverse mutation.
[Link] reverted bacteria will then grow in histidine- or tryptophan-deficient
media, respectively.
Method
I ) Isolate an auxotrophic strain of Salmonella Typhimurium for histidine. (ie.
His-ve)
II) Prepare a test suspension of his-ve Salmonella Typhimurium in a plain
buffer with test chemical (eg. 2-aminofluorene). Also add a small amount
of histidine.
Note: small amount of histidine is required so bacteria starts growing. Once
histidine is depleted only those bacteria mutated to gain the ability to
synthesize histidine form colonies.
III) Also prepare a control suspension of His-ve Salmonella Typhimurium but
without test chemicals.
IV) Incubate the suspensions at 37°C for 20 minutes
V) Prepare the two agar plate and spread the suspension on agar plate.
VI) Incubate the plates at 37°C for 48 hours.
VII) After48 hours count the number of colonies in each plate.
Result Interpretation
• The mutagenicity of chemicals is proportional to number of colonies observed.
• If there is a large number of colonies on the test plate in comparison to control,
then such chemical are said to be mutagens.
• Very few numbers of colonies can be seen on control plate also. This may be due
to spontaneous point mutation on hisidine encoding gene.
Uses
While Ames test is used to identify the revert mutations which are present in
strains, it can also be used to detect the mutagenicity of environmental samples
such as drugs, dyes, reagents, cosmetics, waste water, pesticides and other
substances which are easily solubilized in a liquid suspension.
Merits
• Simple, rapid and robust bacterial assay.
• Ease and low cost of the test make it invaluable for screening substances in our
environment for possible carcinogenicity.
• Ames test can detects suitable mutants in large population of bacteria with high
sensitivity.
Why study gene mutation?
1. Variants in genes (which are caused by mutations) are needed to study the
transmission of traits
2. Mutations can tell the researcher about the function of a gene product in a biological
system
3. Mutations are the basis for cancer and other genetic diseases
4. Gene mutations serve as the source for most alleles in a population and is
therefore, the origin of genetic variation within a population
5. Mutations drive evolution: mutations are the raw material upon which natural selection
acts.
Mechanisms for gene mutation
1. Errors in DNA replication
2. Errors in DNA repair
3. Environmental mutagen causes DNA damage that is not repaired
correctly
4. Transposons and insertion sequences (a mobile DNA elements that
can move from one location in the chromosome to another; the
element may “jump” into a gene thereby mutating it).