Mutations Classification

Mutations
What you need to know

Definition of Mutation
A random change in an organism’s DNA
Can be inherited – passed down from a parent to
their offspring
Can be caused by carcinogens – cancer causing
agents in the environment
What Can
Mutations
Do?
Mutations can be POSITIVE
(helpful)
Some mutations can provide an advantage which
helps the organism survive
Mutations can be NEUTRAL
(not harmful, not helpful)
Some mutations do not effect the organism’s survival (the

mutation does not help or hurt the organism)
e r mu t a tio n
g r e en feath
bright
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c t yly No rm al ( d ark gre e n fea th
da
syn
Mutations can be NEGATIVE (harmful)
Some mutations are
harmful, and hurt the
organism’s chances for
survival
Mutated blood cell

(person with sickle cell
anemia)
Normal red blood cell

Some mutations can be helpful
Some mutations can have no effect

(NEUTRAL)
Some mutations can be harmful

A mutation may be POSITIVE, or
NEUTRAL, or NEGATIVE depending
on the environment
Which bird would have the best chances of survival in a
forest where all the leaves were BLUE?
Classification of Mutation
I. Point of Origin
II. Phenotypic Effects
III. Impact on Protein Function
Point of Origin
 Somatic Mutation
 Germinal Mutation
Somatic Mutations
Mutations that are in the somatic tissues of the body
mutations are NOT transmitted to progeny
The extent of the phenotypic effect depends upon whether the mutation
is dominant or recessive (dominant mutations generally have a greater
effect)
The extent of the phenotypic effect depends upon whether it occurs early
or late in development (early arising mutations have a greater effect)
Sectoring phenotypes may be seen when the mutation occurs during
embryonic development
Cancer caused by somatic mutations
Example of Germinal
Mutation
 Epilepsy
 autism spectrum
disorders (e.g.,
Rett syndrome)
 intellectual
disability
Germinal Mutations
Mutations that are in the germ tissues of the body
Mutations MAY BE transmitted to progeny
Dominant mutations are seen in first generation after the
mutation occurs
If a female gamete containing an X-linked mutation is fertilized,
the males will show the mutant phenotype
Recessive mutations will only be seen upon the chance mating
with an individual carrying the recessive allele too; thus, the
recessive mutation may remain hidden for many generations
Example of Germinal
Mutation
 Retinoblastoma
 Wilms tumor
Phenotypic Effects
 Morphological Mutation
 Lethal Mutation
 Conditional Mutation
 Biochemical Mutation
Morphological Mutation
Mutations that affect the outwardly visible
properties of an organism (i.e. curly ears in
cats)
Lethal Mutation
Mutations that affect the viability of the
organism (i.e. Manx cat)
Conditional Mutation
Mutations in which the mutant allele causes the mutant
phenotype only in certain environments (called the
restrictive condition).
In the permissive condition, the phenotype is no longer
mutant. (i.e. Siamese cat)
Mutant allele causes albino phenotype at the restrictive temperature
of most of the cat body but not at the permissive temperature in
the extremities where the body temperatures is lower)
Biochemical Mutation
Mutations that may not be visible or affect a specific
morphological characteristic but may have a general
affect on the ability to grow or proliferate.
Microorganisms
Human
Inborn errors in metabolism

Impact on Protein Function
 Loss of function mutation
 Gain of function mutation
Loss of Function
Loss of function mutations are those that
destroy the function of the gene product.
In diploid organisms, these are recessive
mutations because the other wild type allele
still encodes a functional gene product.
Type of Loss of Function Mutation
 Null mutation
Loss of function mutation where gene product is
completely inactive
 Leaky mutation
Loss of function mutation where gene product is
not completely inactive (partially active still)
Loss of Function Mutation Examples
Lactose intolerance is usually the
result of “reduction-of-function”
alleles that have low expression of
the lactase enzyme in adults
Loss of Function Mutation
Gain of function mutations are those that
produce a new function for the gene product.
Gain of function mutations are dominant.
Gain of Function Mutation Examples
Marfan syndrome (MFS) is a genetic
disorder of the connective tissue

Mutations Classification

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Mutations

What you need to know

Some mutations do not effect the organism’s survival (the

c t yly No rm al ( d ark gre e n fea th

Mutated blood cell

Normal red blood cell

Some mutations can have no effect

Some mutations can be harmful

Inborn errors in metabolism

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