Mutation

• This lesson will introduce you to the effects of gene mutations. So,
stay tuned and have fun learning the following:
• 1. Explain how mutations may cause changes in the structure and
function of a protein (S10LTIIIe-38).
Mutation
• 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 UV light and cigarette smoke. Mutation
occurs during DNA replication, thus transcription into mRNA is anomalous.
• 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 that you have explored in the
previous activity. These are POINT mutation and FRAMESHIFT
mutation. First, you made a POINT mutation in the original DNA. The
second mutation you explored is a FRAMESHIFT mutation. Lastly, the
third mutation you determined is a special type of point mutation
called a SILENT mutation.
• Let’s take a look on the definitions and descriptions about the types of
mutation.
• First gene mutation is the point mutation. It is the type mutation in DNA
or RNA wherein one single nucleotide base is deleted, added or altered.
This can lead to substitution mutation. There are three types of
substitution mutation. These are nonsense, missense and 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.
2) 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)
• Missense mutation can be classified into conservative and non-
conservative.
• 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.
Table 1 shows the different kinds of substitution point mutations. It shows the DNA
template, messenger RNA codon, anticodon, and the amino acid produced.
Take note: Amino Acids are based on mRNA
• Second gene mutation is the frameshift mutation. Frameshift
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. 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.

• What happens when a person has mutated genes?
• This can lead to inherited disorders. One of the most common disorders is the sickle
cell anemia. This type of anemia is caused by a recessive disorder through a single
bstitution mutation in the gene that is responsible for haemoglobin production.
Hemoglobin is nown 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. Sickle cell anemia’s symptoms are anemia, pain crises
• and frequent infections. It can be managed with prescription drugs, folic acid, bone
• marrow transplants, and blood transfusions.
• Likewise, deletion mutation can lead to albinism. 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.
• Another is the Cystic Fibrosis (CF). It 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.
• Furthermore, is the Down syndrome or Trisomy 21. It 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
(showing three chromosomes) onto chromosome 14 (see Figure 11).
1. (Mutations, Mutagens) are changes to a DNA sequence.
2. (Mutations, Mutagens) are agents that cause alteration in the DNA.
3. The type mutation in DNA or RNA wherein one single nucleotide base is deleted, added
or altered is called (point, frameshift) mutation.
4. Point mutation can lead to (substitution, frameshift) mutation.
5. (Nonsense, Missense) mutation results in the formation of a stop codon due to the
substitution of one nitrogen base.
6. When one nitrogen base of the DNA is replaced, and the result is an altered codon
formation but does not form a stop codon, it is classified as (nonsense, missense) mutation.
7. (Missense, Silent) mutation can be classified into conservative and nonconservative.
8. (Conservative, Non-conservative) mutation happens when the same properties of amino
acid were formed to the one that was supposed to be produced.
9. (Conservative, Non-conservative) happens when amino acid has produced different
properties of protein)
10. (Missense, Silent) mutation happens when a nitrogen base is altered, but the same
amino acid is produced. Remember, many codons can code for the same amino acid.
• 11. (Point, Frameshift) mutation happens when the normal sequence
of codons is disorganized by the insertion or deletion of one or more
nitrogen bases, given that the number of nitrogen bases added or
deleted is not a multiple of three.
• 12. (Cystic Fibrosis, Albinism) is a recessive inherited disorder caused
by the deletion of the amino acid phenylalanine.
• 13. (Cystic Fibrosis, Sickle cell anemia) is caused by a recessive
disorder through a single substitution mutation in the gene that is
responsible for hemoglobin production.
• 14-15. (Cystic Fibrosis, Down syndrome) is related with slight
retardation of cognitive ability. It is also characterized with
impairment of physical growth, body and facial features. It is caused
by a (substitution, translocation) during meiosis that transfers most of
chromosome 21 onto chromosome 14.