GENE MUTATION,

DNA REPAIR, AND

TRANSPOSITION
Gene Mutation
• The ability of DNA molecules to store, replicate, transmit,
and decode information is the basis of genetic function.
But equally important are the changes that occur to DNA
sequences
• Genetic Mutations are the source of new alleles and are
the origin of genetic variation within populations.
• On the downside, they are also the source of genetic
changes that can lead to
• cell death,
• genetic diseases,
• and cancer.
Gene Mutation
• Gene mutations are the variation of the DNA sequence of
the gene that alters the gene to form a new allele.
• Gene mutations are the major source of genetic variation
among the species/population
• Overall gene mutation is defined as:
“A gene mutation is a permanent alteration in the DNA
sequence that makes up a gene, such that the sequence
differs from what is found in wild type population”.
Gene Mutations Are Classified
in Various Ways
• Gene mutations are classified as
1. Spontaneous mutations: are changes in the nucleotide sequence of
genes that appear to have no known cause. No specific agents are
associated with their occurrence, and they are generally assumed to be
accidental.
2. Induced mutations: mutations that result from the influence of
extraneous factors. They could be the result of either natural or artificial
agents. For example, radiation from cosmic and mineral sources and
ultraviolet radiation from the sun are energy sources to which most
organisms are exposed.
mutation rate
• The mutation rate is defined as
• the likelihood that a gene will undergo a mutation in a
single generation or in forming a single gamete.

1. First, the rate of spontaneous mutation is exceedingly

low for all organisms.
2. Second, the rate varies between different organisms.
3. Third, even within the same species, the spontaneous
mutation rate varies from gene to gene.
Theories of Mutations
1. Adaptive Mutations hypothesis: mutations, or genetic
changes, are more purposeful than traditional evolution.
These mutations are adapted by the species
2. Random Mutations hypothesis: mutations that occur
at different time period in a population affecting one or
more individuals and can cause serious diseases e.g.
Cancer
Classification Based on Location
of Mutation
1. Somatic mutations are those occurring in any cell in
the body except germ cells.
2. Autosomal mutations are mutations within genes
located on the autosomes.
3. X-linked and Y-linked mutations are those within
genes located on the X or Y chromosome, respectively.
 Classification Based on Type
of Molecular Change
There are 5 basics types of mutations based on the change in
the DNA sequence.
1. Point mutation
2. Missense mutation
3. Nonsense mutation
4. Silent mutation
5. Frameshift mutations
Point mutation:
• A change of one base pair to another in a DNA molecule
Missense mutation
• A change of one nucleotide of a triplet codon within a
gene may result in the creation of a new triplet that codes
for a different amino acid in the protein product
Nonsense mutation
The triplet code will be changed into a stop codon, resulting
in the termination of translation of the protein.
Silent mutation
• If the point mutation alters a codon but does not result in a
change in the amino acid at that position in the protein
Frameshift mutations
• The loss or addition of a single nucleotide causes all of
the subsequent three-letter codons to be changed.
• These are called frameshift mutations because the frame
of triplet reading during translation is altered.
Induced Mutations Arise from DNA Damage
Caused by Chemicals and Radiation
• Mutations that are induced by the environmental change
can damage DNA and cause Cancer.
• The agents that induce mutations in DNA are called
Mutagens.
• Mutagens have potential to induce mutations in DNA and
they can even damage the DNA.
Single-Gene Mutations Cause a
Wide Range of Human Diseases
Single-Gene Mutations Cause a
Wide Range of Human Diseases
Organisms Use DNA Repair
Systems to Counteract Mutations
Organisms Use DNA Repair
Systems to Counteract Mutations
Newly synthesized DNA

Template DNA

Replaced DNA

Sealed gap
Organisms Use DNA Repair
Systems to Counteract Mutations

Mismatched base removed

Nucleotide base corrected

Organisms Use DNA Repair
Systems to Counteract Mutations

Cut part is replaced by new