utations are random changes in the sequence of bases in DNA

Everyone has mutations In fact mostpeople have dozens or even

hundreds of mutations in their DNA
From an evolutionary perspectivemutations are essential They are
needed for evolution to occur because they are the ultimate source
of all new genetic variation in any species
Causes OFMUTATIONS
Not only do mutations occur spontaneously but there are also factor
which can lead to mutations Mutagenesis is a process by which
the genetit information of an organism is changed in a stable
manner resulting in a mutation In nature mutagenesis can lead
to mutations which are beneficial or harmful or which have no
effect Harmful mutations can lead to cancer or various heritable
diseases but beneficial mutations are the driving force of evolution
In 1927 Herman muller first demonstrated the effects of mutations
induced mutagenesis
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INDUCED MUTATIONS
A mutation caused by an environmental factor or mutagen is known
as an induced mutation Typical mutagens include chemicals like
those inhaled while smoking and radiation such as rays
ultr violet
light and nuclear radiation Different mutagens have different
modes of damaging DNA
Example UV radiation may cause bonding between the adjacent
nucleotides on one strand of DNA molecule This prohibits normal

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Ultraviolet UV photons harm th
DNA moletules of living
organisms in different ways In
one common damage event
adjacent bases bond with eac
other instead of across the
ladder This creates a bulg
and the distorted DNA
molecule does not function
properly

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somatic mutations occur in other cells of the body These mutations

may have little effect on the organism because they are
confined to just one cell and its daughter cells somatic
mutations also cannot be passed on to the offspring

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CHROMOSOMAL ALTERATIONS
chromosomal alterations are mutation that change the chromosome
structure or number They occur when a section of a chromosome
breaks off and rejoins incorrectly or does not rejoin at all
Possible ways in which these mutations can occur are illustratedbelow
Chromosomal alterations are very serious They often result in the
death of the organism in which they occur If the organism
survives it may be affected in multiple ways An example of
human chromosomal alteration is the mutation that causes
downsyndrome it is a duplication mutation that leads to
developmental delays or other abnormalties It occurs when the
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The chromosome alteration may occur due to
deletion or duplication of genes in a
chromosome eversion of a section of a
chromosome insertion of genes from one
inromosome to another or exchanges of
genes between two chromosomes
 A point mutation is a change in a single nucleotide in DNA Thistypeof
mutation is usually less serious than a chromosomal alteration An
example of point mutation is a mutation that changes the codon
Hun to the codon UCU Point mutations can be silent missense or
nonsense mutations as shown in the table below The effects of
point mutations depend on how they change the genetic code
TYPE DESCRIPTION EXAMPLE EFFECT
ne CAG none
silent Mle a
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CAAglutamine CA proline variable
missense Mff
tfdnfogomnopdeasefdra
CAA glutamine UAAstop serious
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Deletion removes nucleotides and insertions add nucleotides consider
the following sequence of bases in RNA
AUG AAU ACG GCU metionine asparagine threonine alanine
Now assume that an insertion occurs in this sequence Let's say
an A nucleotide is inserted after the start codon AUG The
the sequence of bases becomes
UAC 660 U methionine lysine tyrosine
Agy EA
Even though the rest of the sequence as unchanged this
changes thereading frame and thus all the codons that
follow it As this example shows a frameshift mutation
can dramatically change now to codons in MRNA are read
This can have a drastic effect on the protein product
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codon is created by the mutation
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frame of the codon
sequence of a gene
changes when a nucleotide
gets deleted due tomutall
Normalgene codes for a

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Examples include silent
point mutations
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which are neutra
because they the amino acids in the proteins they
do not change
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many other DNA changes or errors have no effects on the organism
because they are repaired before protein synthesis occurs cells
have multiple repair mechanisms to fix errors in DNA
BENEFICIAL MUTATIONS

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chance of surviving or reproducing the mutations are likely to
become move common over time There are several well known
examples of beneficial mutations

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2 A unique mutation is found in people in a small town in Italy The
mutation prevents them from developing Atherosclerosis which
the dangerous buildup of tatty materials in the bloodcessels
The individual inwhich the mutation first appeared has been identified
Harmful mutations
Imagine making a random change in a complicated machine such as a
car engine The chance that the change would improve the
functioning of the car is very small The change is far
more likely to result in a car that does not run well or perhaps
does not run at all By the same token any random change
in a gene's DNA is likely to result in the production of a
protein that does not function normally or may not function a
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A genetic disorder is a disease syndrome or other abnorm
condition caused by a mutation in one or more genes or by

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Cancer is a disease in which cells grow out of control and
form abnormal masses of cells talled tumors It is generally
caused by mutations in genes which regulate the cell
cycle Because of the mutations cells with damaged DNA are
allowed to divide without restrictions
 SOMATIC VS GERMLINE MUTATIONS
mutation occurs in the DNA of a single cell in single cell organisms that
mutation is passed on directly to its descendants typically through the
process of mitosis In multicellular organisms there is a partitioning
early in development into somatic cells which form the body cells
and germline cells which form the gametes for the next generation
mutations may be passed onto somatic cells via mitosis and to gametes
via meiosis In plant this somatic germline separation occurs later in
the cells that form the flower
SOMATIC MUTATIONS
somatic cells form the tissue of organisms and are not passed on as

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GERMLINE MUTATIONS
Germine cells are those that form the eggs or sperm cells

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