MUTATION

• Changes in the nucleotide sequence of DNA

• May occur in somatic cells (aren’t passed to offspring)

• May occur in gametes (eggs & sperm) and be passed to offspring

MUTATIONS

 Point mutations

 Chromosome mutations
Point Mutations

• Change of a single nucleotide

• Includes the deletion, insertion, or substitution of ONE nucleotide in a gene

• Inversions

• Insertions and deletions

• Translocations
Types of Mutations
Now and then cells make mistakes in copying their own DNA, inserting the wrong base or even skipping
a base as a strand is put together.

These variations are called mutations, from the Latin word mutare, meaning “to change.”

Mutations are heritable changes in genetic information.

All mutations fall into two basic categories:

Those that produce changes in a single gene are known as gene mutations.

Those that produce changes in whole chromosomes are known as chromosomal mutations.

Gene Mutations
Mutations that involve changes in one or a few nucleotides are known as point mutations because they
occur at a single point in the DNA sequence.

They generally occur during replication.

If a gene in one cell is altered, the alteration can be passed on to every cell that develops from the
original one.

Point mutations include substitutions, insertions, and deletions.

Substitutions

In a substitution, one base is changed to a different base.

Substitutions usually affect no more than a single amino acid, and sometimes they have no effect at all.
In this example, the base cytosine is replaced by the base thymine, resulting in a change in the mRNA
codon from CGU (arginine) to CAU (histidine).

However, a change in the last base of the codon, from CGU to CGA for example, would still specify the
amino acid arginine.

Insertions and Deletions

Insertions and deletions are point mutations in which one base is inserted or removed from the DNA
sequence.

If a nucleotide is added or deleted, the bases are still read in groups of three, but now those groupings
shift in every codon that follows the mutation.

Insertions and deletions are also called frameshift mutations because they shift the “reading frame” of
the genetic message.

Frameshift mutations can change every amino acid that follows the point of the mutation and can alter a
protein so much that it is unable to perform its normal functions.
Chromosomal Mutations

Chromosomal mutations involve changes in the number or structure of chromosomes.

These mutations can change the location of genes on chromosomes and can even change the number of
copies of some genes.

There are four types of chromosomal mutations: deletion, duplication, inversion, and translocation.

Deletion involves the loss of all or part of a chromosome.

Inversion reverses the direction of parts of a chromosome.

Translocation occurs when part of one chromosome breaks off and attaches to another.
Mutagens

Some mutations arise from mutagens, chemical or physical agents in the environment.

Chemical mutagens include certain pesticides, a few natural plant alkaloids, tobacco smoke, and
environmental pollutants.

Physical mutagens include some forms of electromagnetic radiation, such as X-rays and ultraviolet light.

If these mutagens interact with DNA, they can produce mutations at high rates.

Some compounds interfere with base-pairing, increasing the error rate of DNA replication.

Others weaken the DNA strand, causing breaks and inversions that produce chromosomal mutations.

Cells can sometimes repair the damage; but when they cannot, the

DNA base sequence changes permanently.

Harmful and Helpful Mutations

The effects of mutations on genes vary widely. Some have little or no effect; and some produce
beneficial variations. Some negatively disrupt gene function.

Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s
situation.

Mutations are often thought of as negative because they disrupt the normal function of genes.

However, without mutations, organisms cannot evolve, because mutations are the source of genetic
variability in a species.
Harmful Effects

Some of the most harmful mutations are those that dramatically change protein structure or gene
activity.

The defective proteins produced by these mutations can disrupt normal biological activities, and result
in genetic disorders.

Some cancers, for example, are the product of mutations that cause the uncontrolled growth of cells.

Sickle cell disease is a disorder associated with changes in the shape of red blood cells. Normal red blood
cells are round. Sickle cells appear long and pointed.

Sickle cell disease is caused by a point mutation in one of the polypeptides found in hemoglobin, the
blood’s principal oxygen carrying protein.

Among the symptoms of the disease are anemia, severe pain, frequent infections, and stunted growth.

Beneficial Effects

Some of the variation produced by mutations can be highly advantageous to an organism or species.

Mutations often produce proteins with new or altered functions that can be useful to organisms in
different or changing environments.

For example, mutations have helped many insects resist chemical pesticides.

Some mutations have enabled microorganisms to adapt to new chemicals in the environment.

Plant and animal breeders often make use of “good” mutations.

For example, when a complete set of chromosomes fails to separate during meiosis, the gametes that
result may produce triploid (3N) or tetraploid (4N) organisms.

The condition in which an organism has extra sets of chromosomes is called polyploidy.

Polyploid plants are often larger and stronger than diploid plants.

Important crop plants—including bananas and limes—have been produced this way.

Polyploidy also occurs naturally in citrus plants, often through spontaneous mutations.
3. Causes and Mechanisms of Mutation

a) Errors in DNA replication.

b) Errors in DNA repair.

c) Environmental mutagen causes DNA damage that is not repaired correctly.

d) Transposons and insertion sequences (a mobile DNA elements that can move from one location in the
chromosome to another; the element may “jump” into a gene thereby mutating it).
e) External Causes: Mutagenic agents that damage DNA such as chemical mutagens, physical mutagens
or biological mutagens.

Figure 10: Sickle-cell anemia is characterized by deformed red blood cells

Down syndrome

Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part
of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate
intellectual disability, and characteristic facial features. The average IQ of a young adult with

Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary
widely [58-60]. There is no cure for Down syndrome.

Education and proper care have been shown to improve quality of life. Some children with Down
syndrome are educated in typical school classes, while others require more specialized education
Huntington's disease

HD is a rare, adult-onset, autosomal dominant, progressive neurodegenerative disease. Also known as

Huntington's chorea, is mostly an inherited disorder that results in the death of brain cells.

The earliest symptoms are often subtle problems with mood or mental abilities.

A general lack of coordination and an unsteady gait often follow. As the disease advances,
uncoordinated, jerky body movements become more apparent.

Physical abilities gradually worsen until coordinated movement becomes difficult and the person is
unable to talk. Mental abilities generally decline into dementia.

The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50
years of age but can start at any age.

The disease may develop earlier in life in each successive generation. About eight percent of cases start
before the age of 20 years, and are known as juvenile HD, akinetic-rigid, or Westphal variant HD, they
typically present with symptoms more like Parkinson's disease

Figure 20: Huntington's disease