MUTATION

MELCs
 Explain how mutations may cause
changes in the structure and function
of a protein (S10LTIIIe-38).
 RECAP
WHAT ARE PROTEINS?
WHAT IS THE DIFFERENCE BETWEEN
DNA AND RNA?
WHAT ARE THE TWO
STAGES OF
PROTEIN SYNTHESIS?
-Apeptide with more than about 100
Amino Acids is called a PROTEIN.
DNA (deoxyribonucleic acid)
 Found in the nucleus of the cell.
 Double stranded. Its sugar is
deoxyribose.
 It is where the genetic codes are
found.
 These codes for amino acids is
RNA (ribonucleic acid)
 Found outside the nucleus (cytoplasm).
 Single stranded.
 Its sugar is called ribose.
 Carries the genetic information that is
translated by ribosomes into various
proteins necessary for cellular processes.
The DNA is used to complete the process of
protein synthesis.

Protein synthesis has two stages which are

called transcription and translation.

During protein synthesis at the ribosome,

messenger RNA sequences are read and
translated into amino acids. These amino
acids will form proteins.
These amino acids are specified by
codons carried by mRNA.

If the mRNA is copied incorrectly

during transcription stage, there will
be an anomaly in the genes. This is
called mutation.
A mutation is a change that occurs in our
DNA sequence, either due to:
mistakes when the DNA is copied or
as the result of environmental factors such as:
Ultra Violet light and
cigarette smoke.

Mutation occurs during DNA replication,

thus transcription into mRNA is
anomalous.
ACTIVITY TIME

GENOMAZING
CHALLENGE!
MATERIALS:
 Activity sheet
 Ball pen
 Paper
PROCEDURE:
1. Study Figure 1 (amino acid chart) and the DNA
sequences carefully, and read the captions very
well. Get a sheet of paper for your answers and
observation. Do not copy the questions, just write
down your answer or observations.
2. Study the following DNA strand:
Transcribe and Translate the original DNA
strand:
DNA: ATGCCCGGCGAG
mRNA: _ _ _ _ _ _ _ _ _ _ _ _
tRNA: _ _ _ _ _ _ _ _ _ _ _ _
2.1. Refer to your answer in item number 2.
When protein synthesis is completed, write the
sequence of amino acid. Refer to Figure 1: Amino
acid chart.

2.2. Edit the DNA strand in #2 by changing the

second and third bases of ATG to A. What will be
the new amino acid chain created by the modified
DNA? Refer to Figure 1: Amino acid chart.
DNA: _________________________________________________
mRNA: _________________________________________________
tRNA: _________________________________________________
Amino acid:
2.3. Return the DNA to its original state
(A T G C C C G G C G A G). This time, write an
additional A after ATG, the DNA strand will be
___________________________________.

What will be the new amino acid chain created by

the DNA?
Refer to Figure 1: Amino acid chart.
DNA: __________________________________
mRNA: __________________________________
tRNA: __________________________________
Amino acid:
2.4. Return the DNA to its original
state
(A T G C C C G G C G A G).
Write CCA instead of CCC.
What will be the new peptide created by
the DNA? Refer to Figure 1: Amino
acid chart.
DNA: __________________________________
mRNA: __________________________________
tRNA: __________________________________
Mutations
-are changes to a DNA sequence.
Just like the information in DNA as
a group of sentences, mutations
are mistakes in spelling of the
words that form those sentences.
Mutagens
-are agents that cause alteration in the DNA
and can lead to permanent mutations in the
DNA sequence depending on the ability of an
organism to repair the damage.

Examples of mutagens are:

 radioactive substances,
 x-rays,
 ultraviolet radiation, and
 certain chemicals or drugs.
There are different types of mutations:
POINT mutation
FRAMESHIFT mutation
SILENT mutation
POINT MUTATION
-is the type mutation in DNA or RNA
wherein one single nucleotide base is deleted,
added or altered.

This can lead to substitution mutation.

Three Types of Substitution Mutation:
Nonsense Mutation
Missense Mutation
Silent Mutation
1. Nonsense Mutation
-results in the formation of a stop codon due to
the substitution of one nitrogenous base.
Remember, stop codons are special
nitrogenous bases that stop the translation
stage in protein synthesis.
These are ATC, ATT, or ACT in DNA, and UAG,
UAA, or UGA in mRNA.

They are usually located at the end of

messenger RNA nucleotide base sequence.

However, when a substitution mutation causes

it to appear in another place, it will suddenly
stop the translation process to amino acid and
will fail to produce the correct protein.
Example:
2. Missense Mutation
-When one nitrogenous base of the DNA is
replaced and the result is an altered codon but
does not form a stop codon, it is classified as
missense mutation.
This will create a different amino acid in protein
synthesis.
Example: DNA: CAT to mRNA : GUA to tRNA CAU
(Valine) CAT is changed into CCT to mRNA:
GGA to tRNA: CCU (Glycine)
Example:
 Missense mutation can be classified
into:
 Conservative mutation: When the
new amino acid formed has the same
properties of the one that was supposed
to be produced.
 Non-conservative: When the new
amino acid formed has different
properties of the one that was supposed
to be produced.
3) Silent mutation
-happens when a nitrogenous base is
altered but the same amino acid is produced.
Remember:
Many codons can code for the same amino
acid.
Example: GGC and GGU can both code for glycine.
If C is changed to an U, the same amino acid will be
produced and therefore, the amino acid will not be
changed.
 FRAME SHIFT MUTATION
-happens when the normal sequence of
codons is disorganized by the insertion or
deletion of one or more nitrogenous bases,
given that the number of nitrogenous bases
added or deleted is not a multiple of three.

For example, if just one nucleotide is deleted, then

all of the codons after the mutation will have an
altered reading frame.
WHAT WOULD BE THE IMPLICATION?
This can lead to the possible change of many
amino acids that may affect the amino acid
chain produced incorporation of many
changes in amino acids into the protein.

In contrary, when three nitrogenous bases

are deleted or inserted, there will be no shift
in the codon reading frame but, there will be
either an extra or a missing amino acid in the
protein.
 Therefore, frameshift mutations lead to the
abnormal protein with an improper amino acid
sequence that can be either longer or shorter
than the normal protein.

The following are kinds of chromosomal mutations:

1. Deletion- happens when a base is deleted from
the nitrogen base sequence.
2. Duplication – occurs when a part of a
chromosome is copied (duplicated) too many
times. This type of chromosomal change results
in extra copies of genetic material from the
duplicated segment.
3. Inversion - when a segment of a
chromosome is reversed end to end.

4. Insertion- the addition of one or more

nucleotide base pairs into a DNA
sequence.
5. Translocation- segments of two
chromosomes are exchanged.

Figure 7. Translocation
WHAT HAPPENS WHEN A PERSON HAS
MUTATED GENES?
This can lead to inherited disorders.
SICKLE CELL ANEMIA
-is caused by a recessive disorder through
a single substitution mutation in the gene
that is responsible for hemoglobin
production.
Hemoglobin is known for carrying oxygen in
the blood.
In a normal gene, glutamic acid is
formed in the chain.
But when the amino acid valine
substitutes glutamic acid, this leads
to the production of sickle-shaped
blood cells.
These cells cannot properly carry
oxygen.
ALBINISM
(specifically type I oculocutaneous albinism
-is an autosomal recessive disorder in which
the formation of melanin is reduced or absent
in skin, hair, and eyes due to the lack of
activity of tyrosinase.
This is caused by the deletion of the
tyrosinase gene.

Tyrosinase- is responsible for the first step in

melanin production.
CYSTIC FIBROSIS
-is a recessive inherited disorder. Although
there are many different mutations that can
cause cystic fibrosis, deletion mutation is the
most common cause.
It affects the cystic fibrosis transmembrane
conductance regulator (CFTR) gene that leads
to the deletion of the amino acid
phenylalanine.
This causes an incorrect protein.
DOWN SYNDROME (or Trisomy21)
-is related with slight retardation of cognitive
ability.

-It is also characterized with impairment of

physical growth, body and facial features.

Down syndrome is caused by a translocation

during meiosis that transfers most of
chromosome 21 onto chromosome 14.
ASSESSMENT