Dr.

Rowshan Ara Begum

Department of Zoology
Dhaka University

Zool. 302 (Animal genetics)

Lecture -6 "Mutation"

What is Mutation
In genetics, a mutation is a change of the nucleotide sequence of
the genome of an organism, virus, or extrachromosomal genetic
element.

How do mutations occur?

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*Gene mutations occur in two ways: they can be inherited from a
parent or acquired during a person’s lifetime.
i) Germline mutations: Mutations that are passed from parent to
child are called hereditary mutations or germline mutations
(because they are present in the egg and sperm cells, which are also
called germ cells). This type of mutation is present throughout a
person’s life in virtually every cell in the body.
ii) Somatic mutations: Acquired (or somatic) mutations occur in
the DNA of individual cells at some time during a person’s life. These
changes can be caused by environmental factors such as ultraviolet
radiation from the sun, or can occur if a mistake is made as DNA
copies itself during cell division. Acquired mutations in somatic cells
(cells other than sperm and egg cells) cannot be passed on to the next
generation.

Classification of mutation :
***By effect on structure: 1)Chromosomal mutations: five types of
chromosomal mutations usually observed.

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 2)Gene mutation:
The sequence of a gene can be altered in a number of ways. Gene
mutations have varying effects on health depending on where they
occur and whether they alter the function of essential proteins.
Mutation in the structure of genes is usually known as point mutation.

Point mutations, often caused by chemicals or malfunction of DNA

replication, exchange a single nucleotide for another. These changes are
classified as transitions or transversions.

i)Transition mutation: Most common is the transition that exchanges

a purine for a purine (A ↔ G) or a pyrimidine for a pyrimidine, (C ↔
T).

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ii)Transversion mutation: Less common is a transversion, which
exchanges a purine for a pyrimidine or a pyrimidine for a purine (C/T
↔ A/G). An example of a transversion is adenine (A) being converted
into a cytosine (C).

*Point mutations that occur within the protein coding region of a gene

may be classified into three kinds, depending upon what the
erroneous codon codes for:

iii) Silent mutations: which code for the same (or a sufficiently
similar) amino acid.

iv)Missense mutations: which code for a different amino acid.

v)Nonsense mutations: which code for a stop and can truncate

the protein.

***By effect on function (4types)

i)Loss-of-function mutations ,

ii)Gain-of-function mutations,

iii)Lethal mutations ,

iv)Reversion mutation.

***By effect on fitness (3 types)

i)A harmful, or deleterious,

ii)A beneficial, or advantageous 

iii)A neutral

Significance of mutation:
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i)Mutations may or may not produce discernible changes in the
observable characteristics (phenotype) of an organism.
ii)Mutations play a part in both normal and abnormal biological
processes including: evolution, cancer, and the development of the
immune system.
Specific diseases caused by point mutations:
i)Cancer:
Point mutations in multiple tumor suppressor proteins cause cancer. For
instance, point mutations in Adenomatous Polyposis Coli promote
tumorigenesis.
ii)Sickle-cell anemia:
Sickle-cell anemia is caused by a point mutation in the β-globin chain
of haemoglobin, causing the hydrophilic amino acid glutamic acid to be
replaced with the hydrophobic amino acid valine at the sixth position.
The β-globin gene is found on the short arm of chromosome 11
(11p15.5). The association of two wild-type α-globin subunits with two
mutant β-globin subunits forms haemoglobin S (HbS). Under low-
oxygen conditions (being at high altitude, for example), the absence of
a polar amino acid at position six of the β-globin chain promotes the
non-covalent polymerisation (aggregation) of haemoglobin, which
distorts red blood cells into a sickle shape and decreases their elasticity.
Hemoglobin is a protein found in red blood cells, and is responsible for
the transportation of oxygen through the body. There are two subunits
that make up the hemoglobin protein: beta-globins and alpha-globins.
Beta-hemoglobin is created from the genetic information on the HBB,
or "hemoglobin, beta" gene found on chromosome 11p15.5. A single
point mutation in this polypeptide chain, which is 147 amino acids
long, results in the disease known as Sickle Cell Anemia. Sickle-Cell
Anemia is an autosomal recessive disorder that affects 1 in 500 African
Americans, and is one of the most common blood disorders in the
United States.
Sequence for Normal Hemoglobin

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ATG GTG CAC CTG ACT CCT GAG GAG AAG TCT GCC GTT ACT

START Val His Leu Thr Pro Glu Glu Lys Ser Ala Val Thr

Sequence for Sickle Cell Hemoglobin

ATG GTG CAC CTG ACT CCT GtG GAG AAG TCT GCC GTT ACT

START Val His Leu Thr Pro Val Glu Lys Ser Ala Val Thr

Thank you