DNA repair

Definition:
DNA repair:The process by which a cell uses
a series of special enzymes to repair
mutations (changes) in DNA and restore the
DNA to its original state.

DNA repair- mutation

Definition: The change in the base
sequence of DNA is called mutation.
Mutation produces altered gene
The organism carrying the altered
gene is called a mutant.
The organism carrying the normal
gene is called wild type.

DNA repair- mutation

Mutation - classification
1.
2.
3.
4.
5.
6.
7.

Spontaneous mutation
Induced mutation
Point mutation
Misense mutation
Tempearture sensitive mutation
Non sense mutation
Silent mutation

DNA repair
Mutation classification
8. Leaky mutation
9. Transition
10. Trans version
11. Base analogue mutation

DNA repair
Spontaneous mutation :

The mutation
occurring naturally is called spontaneous
mutation it is due to normal cellular
operations or due to random interaction
with the environment.
Induced Mutation: Artificially produced mutations
are called induced mutations. Caused by certain
mutagens. Mutagens may be physical and
chemical factors. Eg. X-rays , nitrous acid.

MUTATION
Point Mutation:

When a single base

pair is altered, the mutation is called point mutation.

Point mutation is
classified into three
types namely
(i) Base substitution: A base is replaced by
another base
(ii) Base Insertion: A new base is inserted
(iii) Base deletion: A base is missing
(iv) Base inversion: The base sequence is
reversed.

Missense

Mutation
mutation:

In a polypeptide
chain, an amino acid is substituted by another
amino acid. Due to substitution of three bases ( a
codon) in the DNA.
Temperature sensitive Mutation: Substitution of
bases produces a protein that is active at one
temperature (typically 30 degree) and inactive at
higher temperature (40-42 degree) this mutation is
called temperature sensitive mutation.

Mutation

Non sense mutation

Mutation
Silent Mutation:

Substitution of 3 bases in the

DNA may result in the substitution of a new amino acid in
the polypeptide chain.

When the substituted amino acid closely related to the

original amino acid, mutation has no detectable effect
on the phenotype of the cell.

This mutation is called silent mutation.

Leaky Mutation:

When the substitution of an

amino acid results in the reduction in the activity of the
protein or enzyme , the mutation is called leaky mutation.

Transition:

is a point mutation where one

purine base is substituted by another purine or one

Mutation
Transversion: is a point

mutation where a
purine is replaced by a pyrimidine or vice versa
Eg. An A-T pair is replaced by T-A or C-G pair.

Base Analogue Mutation:

Certain chemicals are similar to the bases of

DNA. These chemicals are called Base analogue.

The base analogue has the ability to pair with a

base of the DNA causing an alteration in the
gene.
Eg. 5 bromouracil is an analogue of thymine.
Hence BU can pair with adenine cause base

DNA repair

The cell possess an inbuilt system to repair the

damaged DNA. This may be achieved by four distinct
mechanisms.
1. Base excision repair
2. Nucleotide excision repair
3. Mismatch Repair
4. Double strand break repair.

DNA repair

Base excision Repair:

The bases cytosine, adenine , guanine can undergo
spontaneous depurination to respectively form uracil,
hypoxanthine, and xanthine altered bases do not exist in
the normal DNA and therefore need to be removed.
A defective DNA in which cytosine is deaminated to uracil
is acted upon by the enzyme uracil DNA glycosylase.
This results in the removal of the defective base uracil.
AN endonuclease cuts the backbone of DNA strand near
the defect and remove a few bases.
The gap so created is filled up by the action of repair DNA
polymerase and DNA ligase.

DNA repair
Nucleotide Excision repair
The DNA damage due to ultraviolet light, ionizing radiation and
other environmental factors.
It results in the modification of certain bases, strand breaks, cross
linkages etc.
NE repair is ideally suited for large scale defects of DNA
After identification the DNA double helix is unwound to expose the
damaged part.
An excision nuclease cuts the DNA on either side of the damaged
DNA. Defective piece is degraded.
The gap created by nucleotide excision is resealed up by DNA
polymerase and ligate by Ligase.

DNA repair.
Mismatch Repair: Despite high accuracy in replication defects
do occur when the DNA is copied. For instance Cytosine could
be incorporated opposite to adenine.
Mismatch repair corrects a single mismatch base pair e.g. C to
A , instead of T to A.
The template strand of the DNA exists in a methylated form,
while the newly synthesized strand is not methylated..
The Enzyme endonuclease cuts the strand at an adjacent
methylated GATC sequence. This is followed by exonuclease
digestion of the defective strand and thus its removal.
A new DNA strand synthesized to replace the damaged one.

DNA repair

Double Strand break repair.

DSB in DNA are dangerous
They result in genetic recombination which may lead to
chromosomal translocation, broken chromosomes and
finally cell death.
DSP can be repaired by homologous recombination or
non homologous recombination.
Homologous recombination occurs in yeast while in
mammals non homologous.