MUTATION &

MIGRATION
GENETIC MATERIAL

 DNA
 Primary function permanent storage of information
 Does not normally change
 Mutations do occur
 MUTATIONS

 Mutation
 Heritable change in the
genetic material
 Permanent structural change
of DNA
o Alteration can be passed
on to daughter cells
o Mutations in reproductive
cells can be passed to
offspring
 MUTATIONS

 Mutations
 Provide allelic variation
o Ultimate source of genetic variation
o Foundation for evolutionary change
 Various phenotypic effects
o Neutral
o Harmful
o Beneficial
MUTATIONS

 Mutations
 Most mutations are neutral
 More likely to be harmful than beneficial
to the individual
o More likely to disrupt function than
improve function
MUTATIONS
 Mutations
 Many inherited diseases result from mutated genes
 Diseases such as various cancers can be caused by
environmental agents known to
cause DNA mutations
o “Mutagens”
 MODEL ORGANISMS
 Much of our understanding of mutations is a
result of the study of model organisms
 e.g., Bacteria, yeast, Drosophila, etc.
o Amenable to analysis
o Short generation time, numerous offspring, etc.
 Often exposed to mutagenic environmental agents
o Effects of mutations are studied
TYPES OF MUTATIONS

 Types of mutations
 Chromosome mutations
o Changes in chromosome structure
 Genome mutations
o Changes in chromosome number
 Single-gene mutations
o Relatively small changes in DNA
structure
o Occur within a particular gene
o Focus of study in this chapter
TYPES OF MUTATIONS

 Mutations involve the permanent alteration

of a DNA sequence
 Alteration of base sequence
 Removal or addition of one or more
nucleotides
MUTATIONS

 Point mutations
 Change in a single base pair within the
DNA
 Two main types of point mutations
o Base substitutions
• Transition
• Transversion
o Small deletions or insertions
 MUTATIONS

Two types of base substitutions

 Transition
o Pyrimidine changed to another
pyrimidine
• e.g., C  T
o Purine changed to another purine
• e.g., A  G
 Transversion
o Purines and pyrimidines are
interchanged
• e.g., A  C
o More rare than transitions
EFFECTS OF MUTATIONS

 Mutations within the coding sequence of a

gene can have various effects on the
encoded polypeptide’s amino acid sequence
 Silent mutations
 Missense mutations
o Included neutral mutations
 Nonsense mutations
 Frameshift mutations
 EFFECTS OF MUTATIONS

 Silent mutations
 Amino acid sequence is not altered
o e.g., CCC  CCG (pro  pro)
• Genetic code is degenerate
• Alterations of the third base of a codon often
do not alter the encoded amino acid
 Phenotype is not affected
EFFECTS OF MUTATIONS

 Missense mutations
 Amino acid sequence is altered
• e.g., GAA GTA (glu  val)
 Phenotype may be affected
 EFFECTS OF MUTATIONS

 Neutral mutations
 Type of missense mutation
 Amino acid sequence is altered
o e.g., CTT ATT (leu  ile)
o e.g., GAA GAC (glu  asp)
 No detectable effect on protein function
o Missense mutations substituting an amino acid
with a similar chemistry to the original is likely
to be neutral
EFFECTS OF MUTATIONS 16

 Nonsense mutations
 Normal codon is changed into a stop
codon
o e.g., AAA  AAG (lys  stop)
 Translation is prematurely terminated
o Truncated polypeptide is formed
 Protein function is generally affected
EFFECTS OF MUTATIONS
EFFECTS OF MUTATIONS
EFFECTS OF MUTATIONS

 Mutations occasionally produce a

polypeptide with an enhanced ability to
function
 Relatively rare
 May result in an organism with a greater
likelihood to survive and reproduce
 Natural selection may increase the
frequency of this mutation in the
population
MUTATION TYPES

 Genetic terms to describe mutations

 Wild-type
o Relatively common genotype
o Generally the most common allele
 Variant
o Mutant allele altering an organism’s phenotype
 Forward mutation
o Changes wild-type allele into something else
 Reverse mutation
o “Reversion”
o Restores wild-type allele
 MUTATION TYPES

 Genetic terms to describe mutations

 Deleterious mutation
o Decreases an organism’s chance of
survival
 Lethal mutation
o Results in the death of an organism
o Extreme example of a deleterious
mutation
 Conditional mutants
o Affect the phenotype only under a
defined set of conditions
o e.g., Temperature-sensitive (ts) mutants
 MUTATION TYPES

 Genetic terms to describe mutations

 Suppressor mutation
o Second mutation that restores the wild-type phenotype
o Intragenic suppressor
• Secondary mutation in the same gene as
the first mutation
• Differs from a reversion
Second mutation is at a different site
than the first
o Intergenic suppressor
• Secondary mutation in a different gene than the
first mutation
MUTATION TYPES

 Two general types of intergenic suppressors

 Those involving an ability to defy the
genetic code
 Those involving a mutant structural gene
MUTATION TYPES

 Intergenic suppressor mutations involving an ability

to defy the genetic code
 e.g., tRNA mutations
o Altered anticodon region
o e.g., Recognize a stop codon
• May suppress a nonsense mutation in a
gene.
• May also suppress stop codons in normal
genes.
 MUTATION TYPES

 Intergenic suppressors involving a mutant structural gene

 Usually involve altered expression of one gene that
compensates for a loss-of-function mutation affecting
another gene
o Second gene may take over the functional role of the
first
o May involve proteins participating in a common
cellular function
 Sometimes involve mutations in genetic regulatory
proteins
o e.g., Transcription factors activating other genes that
can compensate for the mutation in the first gene
 MUTATION TYPES

 Mutations occurring outside of coding sequences can

influence gene expression
 Mutations may alter the core promoter sequence
o Up promoter mutations
• Mutant promoter becomes more like the
consensus sequence
• Rate of transcription may be increased
o Down promoter mutations
• Mutant promoter becomes less like the
consensus sequence
• Affinity for regulatory factors is decreased
• Rate of transcription may be decreased
MUTATION TYPES

 Mutations occurring outside of coding sequences can

influence gene expression
 Mutations may alter other regulatory sequences
o lacOC mutations prevent binding of
the lac repressor
• Lac operon is constituently expressed,
even in the absence of lactose
Such expression is wasteful
Such mutants are at a selective
disadvantage
MUTATION TYPES

 Mutations occurring outside of coding

sequences can influence gene expression
 Mutations may alter splice junctions
o Altered order and/or number of exons
in the mRNA
MUTATION TYPES

 Mutations occurring outside of coding

sequences can influence gene expression
 Mutations may affect an
untranslated region of mRNA
o 5’- or 3’-UTR
o May affect mRNA stability
o May affect the ability of the
mRNA to be translated
MUTATION TYPES
TRINUCLEOTIDE REPEATS

 DNA trinucleotide repeats

 Three nucleotide sequences repeated in
tandem
o e.g., …CAGCAGCAGCAGCAGCAG…
o Generally transmitted normally from
parent to offspring without mutation
TRINUCLEOTIDE REPEATS

 Trinucleotide repeat expansion (TNRE)

 Number of repeats can readily increase
from one generation to the next
 Cause of several human genetic
diseases
o Length of a repeat has increased
above a certain critical size
o Becomes prone to frequent expansion
TRINUCLEOTIDE REPEATS

 TNRE disorders
 Fragile X syndrome (FRAXA)
 FRAXE mental retardation
 Myotonic muscular dystrophy (DM)
 Spinal and bulbar muscular atrophy
(SBMA)
 Huntington disease (HD)
 Spinocerebellar ataxia (SCA1)
TRINUCLEOTIDE REPEATS

 TNRE disorders
TRINUCLEOTIDE REPEATS

 TNRE disorders
 Expansion may be within a coding sequence of a
gene
o Most expansions are of a CAG repeat
o Encoded proteins possess long tracts of
glutamine
• CAG encodes a glutamine codon
o Presence of glutamine tracts causes aggregation
of the proteins
o Aggregation is correlated with the progression
of the disease
TRINUCLEOTIDE REPEATS

 TNRE disorders
 Expansion may be in a noncoding region of a gene
o Two fragile X syndromes
• Repeat produces CpG islands that become
methylated
• Methylation can lead to chromosome
compaction
• Can silence gene transcription
o Myotonic muscular dystrophy
• Expansions may cause abnormal changes in
RNA structure
TRINUCLEOTIDE REPEATS

 TNRE disorders
 Severity of the disease tends to worsen in future
generations
o “Anticipation”
 Severity of the disease depends on the parent from
whom it was inherited
o e.g., In Huntingdon disease, TNRE likely to
occur if mutation gene is inherited from the
father
o e.g., In myotonic muscular dystrophy, TNRE
likely to occur if mutation gene is inherited
from the mother
TRINUCLEOTIDE REPEATS

 TNRE disorders
TRINUCLEOTIDE REPEATS

 TNRE disorders
 Cause of TNRE is not well understood
 Trinucleotide repeat may produce alterations in
DNA structure
o e.g., Stem-loop formation
o May lead to errors in DNA replication
 TNRE within certain genes alters gene expression
o Disease symptoms are produced
CHROMOSOME STRUCTURE

 Altered chromosome structure can alter

gene expression
 Inversions and translocations commonly
have no obvious phenotypic effects
 Phenotypic effects sometimes occur
o “Position effect”
CHROMOSOME STRUCTURE

 Altered chromosome structure can alter gene expression

and phenotype
 Breakpoint may occur within a gene
o Expression of the gene is altered
 Breakpoint may occur near a gene
o Expression is altered when moved to a new location
o May be moved next to regulatory elements influencing the expression of
the relocated gene
• i.e., Silencers or enhancers
o May reposition a gene from a euchromatic region to a highly condensed
(heterochromatic) region
• Expression may be turned off
CHROMOSOME STRUCTURE

 Altered chromosome structure can

alter gene expression and
phenotype
 An eye color gene relocated to a
heterochromatic region can
display altered expression
o Gene is sometimes
inactivated
o Variegated phenotype results
SOMATIC VS. GERM-LINE

 The timing of mutations in multicellular

organisms plays an important role
 Mutations may occur in gametes or a
fertilized egg
 Mutations may occur later in life
o Embryonic or adult stages
 Timing can affect
 The severity of the genetic effect
 The ability to be passed from parent to
offspring
SOMATIC VS. GERM-LINE

 Animals possess germ-line and somatic cells

 Germ-line cells
o Cells giving rise to gametes
 Somatic cells
o All cells of the body
excluding the germ-line cells
• e.g., Muscle cells, nerve cells,
etc.
 SOMATIC VS. GERM-LINE

 Germ-line cells
 Germ-line mutations can occur in
gametes
 Germ-line mutations can occur in a
precursor cell that produces
gametes
 All cells in the resulting offspring
will contain the mutation
 SOMATIC VS. GERM-LINE

 Somatic cells
 Somatic mutations in embryonic
cells can result in patches of tissues
containing the mutation
o Size of the patch depends on the
timing of the mutation
o Individual is a genetic mosaic
CAUSES OF MUTATIONS

 Two causes of mutations

 Spontaneous mutations
o Result from abnormalities in biological

processes
o Underlying cause lies within the cell
 Induced mutations
o Caused by environmental agents
o Cause originates outside of the cell
CAUSES OF MUTATIONS

 Causes of spontaneous mutations

 Abnormalities in crossing over
 Aberrant segregation of chromosomes during meiosis
 Mistakes by DNA polymerase during replication
 Alteration of DNA by chemical products of normal metabolic
processes
 Integration of transposable elements
 Spontaneous changes in nucleotide structure
CAUSES OF MUTATIONS

 Induced mutations are caused by mutagens

 Chemical substances or physical agents
originating outside of the cell
 Enter the cell and then alter the DNA
structure
CAUSES OF MUTATIONS
Migration
MIGRATION

 Migration is the movement of genetic diversity,

usually within a species.
 The seasonal movement of animals from one
habitat to another in search of food, better
conditions, or reproductive needs.
 Migration, also called gene flow, occurs both
with the advancing front of a population when it
is colonizing new areas.
Reasons why animal and bird
migrate:
 Change of the seasons on the weather
 To find warmer and nicer weather
 Better food
 Safe place to give birth to their young ones.
When and where to migrate:

 Weather change
 Length of days
 Food Availability
How do they find their way?

 use the stars and sun

 used wind to pattern to inland marks
 Migration
 Migration is the movement of populations, groups or
individuals.
 In genetic terms, migration enables gene flow: the
movement of genes from one population into another.
 If the two populations originally had different gene
frequencies and if selection is not operating,
migration (or, to be exact, gene flow) alone will
rapidly cause the gene frequencies of the different
populations to converge.
 Migration
 Migration will generally unify gene frequencies among
populations rapidly in evolutionary time.
 In the absence of selection, migration is a strong force
for equalizing the gene frequencies of subpopulations
in a species.
 Provided that the migration rate is greater than zero,
gene frequencies will eventually equalize.
 Even if there is only one successful migrant per
generation, gene flow inevitably draws the
population’s gene frequency to the species’ average.
Gene flow thus acts to bind the species together
Migration
 Gene flow — also called
migration — is any
movement of individuals,
and/or the genetic material
they carry, from one
population to another.
 Gene flow includes lots of
different kinds of events,
such as pollen being blown
to a new destination or
people moving to new cities
or countries
Migration
 If genetic variants are
carried to a population
where they previously did
not exist, gene flow can be
an important source of
genetic variation.
 In the graphic below, a
beetle carries the gene
version for brown coloration
from one population to
another.
Migration
 Migration is the seasonal movement of
animals from one habitat to another in search
of food, better conditions, or reproductive
needs.
 Migration is a pattern of behavior in which
animals travel from one habitat to another in
search of food, better conditions, or
reproductive needs.
 There are two important factors that make
migration different from other types of animal
movement:
Migration
 First, migration happens seasonally, and second,
migration involves a return journey.
 This makes it different from emigration, when
animals travel to find a new, permanent place to
live.
 Many animal species migrate, including species of
fish, crustaceans, amphibians, reptiles, insects, and
mammals.
 These animals might journey by land, sea, or air to
reach their destination, often crossing vast
distances and in large numbers.
Migration
 One of the main reasons animals migrate is to find
food. In Tanzania, wildebeests , zebras , and
gazelles migrate in huge herds.
 They roam the Serengeti looking for fresh grass and
water, which are hard to find during the dry season.
Humpback whales migrate for food as well.
 In the summer, they travel to feeding grounds near
the polar ice, where the water is full of krill and
small fish. In the winter, they migrate back to
warmer waters to raise their calves.
Migration
 Other animals migrate because of
the climate or seasons.
 For example, monarch butterflies
migrate to avoid cold
temperatures in the winter.
 These butterflies cannot survive
freezing temperatures, so they
fly from Canada all the way to
Mexico, where they gather to
keep warm over winter.
Migration
 They make the return journey
over many generations,
stopping to lay eggs on
milkweed plants along the
way.
 The caterpillars eat the
milkweed and then finish the
journey as butterflies.
Migration
 Finally, some animals migrate for
reproductive reasons: either to find a
mate, raise their young, or to spawn.
 For example, salmon start life in rivers
and migrate to the sea to feed and
grow.
 After spending up to seven years in the
ocean, they migrate back to the rivers
they were born in so that they can
spawn. Christmas Island red crabs
migrate for similar reasons.
 They spend most of their life in the
forest but migrate to the ocean to
reproduce.
Migration
Greater Snow Goose
migration
 Greater Snow Geese
flying over the Saint
Francis river. Geese go
through a migration
every year to escape
the harsh northern
winters.
Migration
 Recent improvements in technology have helped
us understand migration better, but there is still a
lot we do not know.
 Scientists are not yet entirely sure how animals
know where to go and when to leave, especially
when they have never made the journey before.
 Some researchers suggest that these animals use a
mix of stimuli, such as sunlight, the Earth’s
magnetic field, and chemical cues, to find their
way.
 How can migration lead to
evolutionary change?
The movement of individuals, groups, or populations from
one place to another is termed migration.
Migration causes the transfer of genes from one population
to the other.
Migration is also referred to as gene flow in which there is
the transfer of genetic material.
Even when there are no other evolutionary processes
taking place, the process of gene flow can easily lead to
evolution.
 The loss or gain of people in a population will certainly
change the gene pool frequencies and thus leading to
evolution.