MUTATION

MUTATION
Presented by Lovely Krish Raz
 Mutation

• It is an alteration in the nucleic acid sequence of the genome of an

organism, virus, or extrachromosomal DNA or other genetic elements.

• An individual arising or resulting from an instance of mutation is

called MUTANTS
Characteristics

• Mutation are random events in terms of their time of occurrence .

• They can occur in any tissue or cell of an organism.
• Mutational effects can be beneficial, harmful, or neutral, depending
on their context or location.
• Generally mutant alleles are recessive to their wild type alleles.
 History
• English farmer, Seth Wright recorded case of mutation first time in 1791 in male sheep with
unusual short legs.
• The term mutation is coined by Hugo de Vries in 1900 by his observation in Oenothera
lamarckiana.
• Systematic study of mutation started in 1910 when Thomas Hunt Morgan genetically
analyzed white eye mutant of Drosophila.
• Hermann Joseph Muller induced mutation in Drosophila by using X-rays in 1927; he was
awarded with a Nobel prize in 1946
Classification of Mutation
Based on causes of mutation

• SPONTANEOUS MUTATION •INDUCED MUTATION

occur without any exposure to any are those that result from an exposure
environmental agent; they are a result to chemicals, UV rays, x-rays, or
of natural reactions taking place some other environmental agent.
within the body.
 Based on tissue of origin

Germline
mutations occur
Somatic
in a parent’s
mutations are a
reproductive
change to a
cells.
person’s DNA
These mutations
that occurs
change the
after
genetic material
conception to
that the child
any cell that
receives from
isn’t a germ
their parent.
cell
2 TYPES OF MUTATION

• Gene mutation —a small scale alterations of the genetic material of an

organism which primarily is a change in the nucleotide sequence of a
particular gene.

• Chromosome Mutation —a large scale alteration of the chromosome of

an organism, where either the number or the structure of chromosomes is
changed.
Types of Gene Mutation
1. Point Mutation — A type of mutation that causes a single nucleotide base
substitution , insertion or deletion of the genetic material, DNA or RNA
Types of Point Mutation

• Missense Mutation —an alteration in the DNA that results in a different amino acid being
incorporated into the structure of a protein. 
• Nonsense Mutation —A genetic alteration that causes the premature
termination of a protein.
—introduce a stop codon which can truncate the protein.

Example
Central Dogma
CAG CAG CAG CAG CAG
DNA — mRNA — Proteins
CAG CAG CAG TAG CAG
UAG (stop codon)
• Silent Mutation — is a form of mutation that does not cause a major change
in the amino acid. As a result, the protein remains active and functional. Because
of this, the changes are viewed as though they are neutral in terms of evolution

Example.

AAA —AAG
 2. Frameshift Mutation —a mutation cased by indels of a number of
nucleotides that changes the reading frame of the base sequence. Deletions
remove nucleotides, and insertions add nucleotides.

Consider the following sequence of bases in RNA:

AUG-AAU-ACG-GCU = start-asparagine-threonine-alanine

Now, assume an insertion occurs in this sequence. Let’s say an A nucleotide is inserted
after the start codon AUG:

AUG-AAA-UAC-GGC-U = start-lysine-tyrosine-glycine
Thank you for listening!