Mutation

Ripal Mistry
Assistant Professor, SPCP, Bakrol.
 Introduction
 Most biological molecules have a limited lifetime. Many proteins, lipids and
RNAs are degraded when they are no longer needed or damaged, and
smaller molecules such as sugars are metabolized to compounds to make or
store energy.
 In contrast, DNA is the most stable biological molecule. The DNA is passed
from one generation to another, and it is degraded only when cells die.
However, it can change, i.e. it is mutable.
 Mutations, changes in the nucleotide sequence, can result from errors during
DNA replication, from covalent changes in structure because of reaction
with chemical or physical agents called mutagens

Ripal Mistry
 Types of Mutations
 The mutation is a process that produces a gene or chromosome that differs
from the wild type (arbitrary standard for what “normal” is for an organism).
 The mutation may result due to changes either on the gene or the
chromosome itself. Thus, broadly mutation maybe:
o Gene mutation where the allele of a gene changes.
o Chromosome mutation where segments of chromosomes, whole
chromosomes, or entire sets of chromosomes change.

Ripal Mistry
 Types of Mutations

Ripal Mistry
 Types of Mutations
A. Type of Cell involved
 Somatic mutations
 occur in a single body
cell and cannot be
inherited.
 Germline mutations
 occur in gametes and
can be passed onto
offspring.

Ripal Mistry
 Types of Mutations
B. Mode of Origin
 Spontaneous mutations
 The spontaneous mutations occur suddenly in the nature and their origin is
unknown. They are also called “background mutation” and have been
reported in many organisms.
 Induced mutations
 Besides naturally occurring spontaneous mutations, the mutations can be
induced artificially in the living organisms by exposing them to abnormal
environment such as radiation, certain physical conditions (i.e., temperature)
and chemicals.

Ripal Mistry
 Types of Mutations
C. Direction of Mutation
 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.
 Reverse mutations
 The forward mutations are often corrected by error correcting mechanism,
so that an abnormal phenotype changes into wild type phenotype.

Ripal Mistry
 Types of Mutations

Ripal Mistry
 Types of Mutations
D. Size and Quality
 Point mutation
 When heritable alterations occur in a very small segment of DNA molecule,
i.e., a single nucleotide or nucleotide pair, then this type of mutations are
called “point mutations”.

Ripal Mistry
 Types of Mutations
o Transitions : In this case, a purine (or a pyrimidine) is replaced by another.
o Transversions : These are characterized by replacement of a purine by a
pyrimidine or vice versa.

Ripal Mistry
 Types of Mutations

Ripal Mistry
 Types of Mutations

Ripal Mistry
 Types of Mutations
 Frameshift Mutation
 These occur when one or more base pairs are inserted in or deleted from
the DNA, respectively causing insertion or deletion mutations.

Ripal Mistry
 Types of Mutations
E. Physical agents:
 Radiation:
 Radiations are the first mutagenic agent reported in 1920. UV rays, X-rays,
alpha rays, neutrons, and other ionizing and non-ionizing radiations are
mutagenic.
 The electromagnetic radiation is also one of the known mutagens that cause
lethal or sub-lethal mutations (Kill the organism/cell or alter the function of
the cell or protein or a gene). The iodizing radiation produces the free
radicals that damages, not even the DNA but also proteins and lipids present
in a cell.

Ripal Mistry
 Types of Mutations
 UV-rays:
 The UV-light is a non-ionizing type of radiation having less energy in it,
used in the sterilization and decontamination process during the cell culture
and microbiological experiments. The DNA and protein absorb UV light of
260 and 280nm, respectively.
 UV-A: nearly visible range (320nm) causes pyrimidine dimers.
 UV-B: (290-320nm) emitted by the sunlight. These UV rays are highly lethal
to our DNA.
 UV-C: (180-290nm) one of the most energy-consuming forms of the UV
which is extremely lethal.

Ripal Mistry
 Types of Mutations

Ripal Mistry
 Types of Mutations
 Heat:
 Heat is another mutagen that provokes mutations in our DNA. when we heat
the DNA, over a certain degree (>95°C), the DNA becomes denatured- two
single-stranded DNA is generated from the dsDNA. Also, extreme heat also
damages DNA and breaks the phosphodiester bonds too.

Ripal Mistry
 Types of Mutations
F. Chemical mutagens:
 Base analogs:

Ripal Mistry
 Types of Mutations

Ripal Mistry
 Types of Mutations
 Alkylating agents:
 Ethylnitrosourea, mustard gas and vinyl chloride are common alkylating
agents that add alkyl group to the DNA and damages it. The agents induce
base-pairing errors by increasing ionization and produces gaps in the DNA
strand.
 Intercalating agents:
 Ethidium bromide used during the agarose gel electrophoresis is one of the
intercalating agents. Other intercalating agents like proflavine, acridine
orange, or daunorubicin operated by the same mechanism alike the EtBr.

Ripal Mistry
 Types of Mutations

Ripal Mistry
 Types of Mutations
 Metal ions:
 Metal ions also dangerous to our DNA as it acts in varieties of different
ways. Nickel, chromium, cobalt, cadmium, arsenic, chromium and iron are
some of the common metal ions cause mutations.
 The metal ions work by producing ROS (reactive oxygen species), hindering
the DNA repair pathway, cause DNA hypermethylation or may directly
damages the DNA.

Ripal Mistry
 Types of Mutations
G. Biological agents:
 Virus: Viruses insert their DNA into our genome and disrupt the normal
function of DNA or genes. Once it inserts DNA, the DNA is replicated,
transcribed and translate viral protein instead of our own protein. Mature
viral particle forms in a cell.
 Bacteria: Some bacteria are also dangerous for our DNA- cause
inflammation. It provokes DNA damage and DNA breakage.
 Transposons: Less known biological mutagens are transposons. The
transposons are non-coding DNA sequences, jumps from one place to
another place in a genome and influence the function of genes.

Ripal Mistry