AL Bio 2C-1 - Gene Mutation

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Gene Mutation
Topics
Different
Different types
types of
of mutations
mutations
Point
Point mutation
mutation // gene
gene mutation
mutation
Chromosomal
Chromosomal mutation
mutation
Gene
Gene mutation
mutation and
and phenotype
phenotype
Sickle
Sickle cell
cell disease
disease
MUTATION
• A mutation is a permanent change in the DNA of an organism.
• A mutation can happen when the gametes form, although they also
occur during the division of body cells.
• A tiny alteration at this molecular level may not affect any part of
the organisms, or it may affect the whole organisms in devastating
ways.
• Body has its own DNA repair systems. However, some mutations
do remain and are copied from the DNA when new proteins are
made.
• Mutations can be broadly categorised into :
Gene / point mutation – involving just one or a small number of
nucleotides;
Chromosomal mutations –involves changes in the position of
whole genes within the chromosomes
Whole Chromosomal mutations – entire chromosome is either lost
or duplicated
What Are Gene Mutations?
• They are changes in the base sequence (genetic code).

• They are errors that occurs during DNA replication.
• The errors that tend to happen to cause this gene
mutation are:
1. Addition, this is when an extra base (nucleotide) is
inserted.
2. Deletion, this is when a base is removed.
3. Substitution, this is when a base is replaced by a
different one.
• This could affect just one amino acid or the whole
sequence.
The Effect of Substitutions
• If a substitution takes place normally only one codon is
affected, for example if a sequence ATTAUGAAAUUA
becomes ATAAUGAAAUUA only the first codon has
been affected.
• This may cause the wrong amino acid to be inserted,
and this may cause the polypeptide produced to not fold
correctly into its three dimensional shape. This may
cause the protein not to function.
• As the code is degenerate some substitutions will have
no effect at all (particularly is it is the third base in a
codon) as the same amino acid may be inserted during
translation.
• For example, UCU, UCC, UCA, UCG, AGU and AGC all
code for the amino acid leucine. If one changes to the
other, leucine will still be inserted in the correct place in
The Effect of Additions and Deletions
• If an addition or deletion takes place, every subsequent

codon will be effected, for example: if a sequence
ATTAUGAAAUUA becomes A_TAUGAAAUUA, i.e. the
second base, T, has been deleted, the first codon is now
ATA and every subsequent codon has been effected, this
is called a frame shift.
• Additions and deletions have a greater effect than a
substitution, and it is highly likely that the protein formed
will not function.
• Any gene mutation may cause a premature stop codon
to be inserted, the polypeptide formed will be shorter
than normal and again the protein will not fold correctly
into its three dimensional shape and will not function.
Effect of Gene mutation on phenotype
 If the different arrangements of nucleotides code for the same
amino acids, a point mutation will have no effect.
 A mutation occasionally produces a new and superior protein that

may help the organisms gain a reproductive advantage so that it
leaves more offspring than other individuals of that species.
 Most mutations are neutral; neither improve or worsen the chance

of survival.
 Some mutations cause much damage, disrupting the biochemistry

of the whole organisms. If the harmful mutation is in a protein that is
important to the function of a cell- for example the active site of an
enzyme- the effect can be catastrophic.
Some human genetic diseases due to random mutations in the
genetic materials of the gametes :
 Thalassaemia – blood proteins are not manufactured correctly
 Cystic fibrosis – a membrane protein does not function properly
Most mutations will have no observable effects on the organisms.

This may be because:
 The mutations occur in part of the non-coding DNA which does not
affect the way the genetic code is used.
 The code is degenerate and one small change in the code may not
alter the amino acid coded for.
Sickle cell disease
• A genetic disease that affects the protein chains of the

haemoglobin in RBCs.
• Is a result of point mutation
• A change of one base in one codon changes a single amino acid
in a chain of 147 amino acids- but that change alters the nature of
the protein.
• The haemoglobin molecules stick together to form rigid rods that
give the RBCs a sickle shape.
• RBCs then do not carry oxygen efficiently and can prevent the
blood flowing in the capillaries.
• This single change in one nucleotide is enough to cause severe
pain and even death to the people affected.
Question
In the following sequence what would be the precise nature of the two single
base mutations that occurred in the DNA?
Original amino Gly Leu Ser Tyr Gly Arg Tyr

acid sequence
Original mRNA GGU CUU UCU UAU GGU AGA UAU

base sequence
Altered amino Gly Leu Tyr Leu Trp Arg Tyr

acid sequence
Altered mRNA GGU CUU UAC UUA UGG AGA UAU
base sequence
Adenine added, uracil ? Thymine deleted, adenine added

?
deleted
Ser and Gly deleted, Leu Thymine added, adenine
? ?
and Trp added deleted
What Causes Mutations?
• Mutations occur spontaneously, however certain factors can

increase the rate of mutations.
• These are called mutagenic agents, examples of which include: tobacco
tar, pesticides, excess nitrates, mustard gas, asbestos, X rays, U-V rays, Υ-
rays, etc.
• The effect is cumulative i.e. many small doses have the same effect as 1
large dose.
• Mutations can only be passed on to offspring if the occur in gametes.
• Mutations in DNA can be serious if they occur in exons, as every piece of
mRNA transcribed from the DNA in that cell will contain the mutation, and
therefore every protein produced made might not function.
• Mutations in RNA are not as serious because mRNA is specific to one
polypeptide and is short lived. Lots of mRNA is transcribed from DNA and
many will be normal. So, very few abnormal polypeptides will be produced,
the effects of mRNA mutations will mostly go unnoticed.
Mutations and Cancer
• Cancer = uncontrolled cell division
• The rate of cell division is controlled by proto-
oncogenes that stimulate cell division and
tumour suppressor genes that slow cell
division.
• A mutated proto-oncogene, called an
oncogene, will stimulate cells to divide too
quickly.
• If a tumour suppressor gene is mutated and it
becomes inactivate the rate of cell division will
increase.
• Most mutated cells are destroyed by the body, however, if a mutated cell divides,
a clone of identical cells may form, eventually turning into a mass of cells called a
tumour.
• Most tumours are benign (e.g. common warts), don’t spread from their point of
origin. They can press on other tissues causing pain (e.g. ovarian cysts).
• Tumours that can spread throughout the body = malignant tumours. They can
be carried by the circulatory or lymphatic system to other parts of the body and
invade other tissues, = metastasis. Leads to secondary tumours that are often
difficult to find and remove.

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• They are changes in the base sequence (genetic code).

• If an addition or deletion takes place, every subsequent

 A mutation occasionally produces a new and superior protein that

 Most mutations are neutral; neither improve or worsen the chance

 Some mutations cause much damage, disrupting the biochemistry

Most mutations will have no observable effects on the organisms.

• A genetic disease that affects the protein chains of the

Original amino Gly Leu Ser Tyr Gly Arg Tyr

Original mRNA GGU CUU UCU UAU GGU AGA UAU

Altered amino Gly Leu Tyr Leu Trp Arg Tyr

Adenine added, uracil ? Thymine deleted, adenine added

• Mutations occur spontaneously, however certain factors can

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