Gene Mutation, DNA Repair

and Transposition

ROSCEL C. DEFACTO
MAEd-Biological Science
Gene Mutation
•Change in the
nucleotide sequence
of a gene
•May only involve a
single nucleotide
•May be due to copying
errors, chemicals,
viruses, etc.
Types of Gene Mutations
•Based on Molecular Change include:
–Point Mutations
–Substitutions
–Insertions
–Deletions
–Frameshift
Point Mutation
•Change of a single
nucleotide
•Includes the deletion,
insertion, or
substitution of ONE
nucleotide in a gene
Point Mutation
•Sickle Cell disease
is the result of one
nucleotide
substitution
•Occurs in the
hemoglobin gene
Frameshift Mutation

•Inserting or deleting
one or more
nucleotides
•Changes the “reading
frame” like changing a
sentence
•Proteins built
incorrectly
Substitution Mutation
•A substitution is
a mutation that
exchanges one base
for another (i.e., a
change in a single
"chemical letter" such
as switching an A to
a G)
Insertion Mutation
•The addition of
one or more
nucleotide base
pairs into a DNA
sequence
Deletion Mutation
•A part of a chromosome
or a sequence of DNA is
lost during DNA
replication.
•Any number of
nucleotides can be
deleted, from a single
base to an entire piece of
chromosome
Types of Gene Mutations

Based on Location Mutation:

•Somatic mutations
•Germ cell mutations
Types of Gene Mutations
Somatic Mutations
occurs in any cell in the body except
germ cells.
Example:
Huntington Disease
Cystic Fibrosis
Types of Gene Mutations
Germ cell Mutations
this type of mutations are of greater
significance because they may be
transmitted to offspring as gametes.
Types of Gene Mutations

Trisomy 21
(Down’s
Syndrome)
Klinefelter’s Syndrome
DNA Repair
•It is a mechanism to correct
errors during DNA replication
and to repair DNA damage
over the cell’s lifetime.
•DNA repair consists of a cell’s
detecting damage and
signaling systems in the cell
that respond with death or
repair.
Proofreading
•It is the process
where DNA
Polymerases can
“check their work”
with each base that
they add during
DNA replication.
Mismatch Repair
•It happens right after
new DNA has been
made, and its job is
to remove and
replace mis-paired
bases.
DNA Damage Repair Mechanisms
•Direct Reversal
•Excision Repair
a. Base Excision Repair
b. Nucleotide Excision Repair
•Double-Stranded Base Repair
1. Non-Homologous End Joining
2. Homologous Recombination
Direct Reversal(Methyl Group
Removal)
•A mechanism of repair
where the damaged area
or lesion is repaired
directly by specialized
proteins
(Methyltransferase) in
our body.
Direct Reversal(Photo-reactivation)
•It is a method of
DNA Repair for the
recovery of UV
induced DNA
damages by
photolyase enzyme
and visible light
Excision Repair

•Damaged to one or few DNA is

often fixed by removal (excision)
or replacement of the damaged
region.
Base Excision Repair
•It is a mechanism used to
detect and remove
certain types of bases.
•Replaces 1 to 5
nucleotides at a time but
specifically correct errors
that result from oxidative
damage.
Nucleotide Excision Repair

• Detects and corrects types of

damage that distort he DNA
double helix.
• It replaces up to 30 nucleotides
and removes errors that result
from several types of insults,
including exposure to
carcinogens, UV, and oxidative
damage.
Double Stranded Break
Repair
Non-Homologous End Joining
•It is a pathway that
repairs double-strand
breaks in DNA.
•The break ends are
directly litigated without
the need for
homologous template.
Homologous Recombination
• It is a DNA repair process that
includes the invasion of an
undamaged DNA molecule by a
damage molecule of identical
sequence.
• Resynthesis of the damaged
region is accomplished using the
undamaged molecule as a
template.
DNA Transposition

•DNA transposition is carried out by elements

that can move from one locale to another
within a genome or between genomes.
•Such elements are called transposons or
“jumping genes”
Discovery of Transposable Elements

• Barbara McClintock paved way in the discovery of the

transposable elements.
• She observed that genetic determinants called controlling
elements, in maize were moving from one location to another.
• The families of controlling elements are now recognized as
members of the class of transposable elements that move
through DNA intermediate.
Classes of Transposable Elements
The two major classes of
transposable elements are
defined by the intermediates in
the transposition process.

1. Transposable elements
that move via DNA
intermediates
used transpospases and
DNA polymerases to
catalyze transposition.
Classes of Transposable Elements
2. Transposable elements
that move via RNA
intermediates
used RNA polymerase,
endonucleases and reverse
transcriptase to catalyze the
process.
SUMMARY

✔Gene Mutation is the change in nucleotide

sequence of a gene due to copying errors,
chemicals, viruses, etc.
✔ It is classified based on:
Molecular Change
Location Mutation
SUMMARY

✔ DNA Repair is a mechanism that corrects errors

during DNA replication and to repair DNA damage.
✔Proofreading is the process where DNA
polymerases check their work during DNA
replication.
✔ Mismatch Repair is the process where it removes
and replaces mispaired bases.
SUMMARY
✔ DNA Damage Repair Mechanism includes:
Direct Reversal
Excision Repair
Double-Stranded Base Repair
✔DNA transposition is carried out by elements that can
move from one locale to another within a genome or
between genomes.
✔Such elements are called transposons or “jumping
genes”
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MUCH!